diff --git a/.github/workflows/test-backend.yaml b/.github/workflows/test-backend.yaml
index 25f67323a..fbdf68eb8 100644
--- a/.github/workflows/test-backend.yaml
+++ b/.github/workflows/test-backend.yaml
@@ -4,6 +4,9 @@ on:
pull_request:
workflow_dispatch:
+env:
+ PYTHONPATH: ${{ github.workspace }}/backend
+
# defaults:
# run:
# working-directory: ./backend
@@ -40,14 +43,16 @@ jobs:
# run pytest
#----------------------------------------------
- name: Run tests
- run: poetry -C backend run pytest backend/tests
+ run: |
+ poetry -C backend run pytest tests
+ shell: bash
#----------------------------------------------
# coverage report
#----------------------------------------------
- name: Generate coverage results
run: |
- poetry -C backend run coverage run -m pytest backend/tests
+ poetry -C backend run coverage run -m pytest tests
poetry -C backend run coverage xml
poetry -C backend run coverage report -m
shell: bash
diff --git a/backend/src/monarch_py/datamodels/category_enums.py b/backend/src/monarch_py/datamodels/category_enums.py
index 1087a1764..f8b652794 100644
--- a/backend/src/monarch_py/datamodels/category_enums.py
+++ b/backend/src/monarch_py/datamodels/category_enums.py
@@ -4,86 +4,23 @@
class EntityCategory(Enum):
"""Entity categories"""
- SEQUENCE_VARIANT = "biolink:SequenceVariant"
GENE = "biolink:Gene"
- GENOTYPE = "biolink:Genotype"
PHENOTYPIC_FEATURE = "biolink:PhenotypicFeature"
- BIOLOGICAL_PROCESS_OR_ACTIVITY = "biolink:BiologicalProcessOrActivity"
- DISEASE = "biolink:Disease"
- GROSS_ANATOMICAL_STRUCTURE = "biolink:GrossAnatomicalStructure"
- CELL = "biolink:Cell"
- PATHWAY = "biolink:Pathway"
- NAMED_THING = "biolink:NamedThing"
+ GENOTYPE = "biolink:Genotype"
ANATOMICAL_ENTITY = "biolink:AnatomicalEntity"
- CELLULAR_COMPONENT = "biolink:CellularComponent"
- MOLECULAR_ENTITY = "biolink:MolecularEntity"
BIOLOGICAL_PROCESS = "biolink:BiologicalProcess"
- MACROMOLECULAR_COMPLEX = "biolink:MacromolecularComplex"
- MOLECULAR_ACTIVITY = "biolink:MolecularActivity"
+ DISEASE = "biolink:Disease"
+ NAMED_THING = "biolink:NamedThing"
+ PATHWAY = "biolink:Pathway"
PROTEIN = "biolink:Protein"
- CELLULAR_ORGANISM = "biolink:CellularOrganism"
- VERTEBRATE = "biolink:Vertebrate"
- VIRUS = "biolink:Virus"
- BEHAVIORAL_FEATURE = "biolink:BehavioralFeature"
CHEMICAL_ENTITY = "biolink:ChemicalEntity"
- LIFE_STAGE = "biolink:LifeStage"
- PATHOLOGICAL_PROCESS = "biolink:PathologicalProcess"
- DRUG = "biolink:Drug"
- SMALL_MOLECULE = "biolink:SmallMolecule"
+ SEQUENCE_VARIANT = "biolink:SequenceVariant"
+ MOLECULAR_ACTIVITY = "biolink:MolecularActivity"
+ CELLULAR_COMPONENT = "biolink:CellularComponent"
+ CELL = "biolink:Cell"
ORGANISM_TAXON = "biolink:OrganismTaxon"
- INFORMATION_CONTENT_ENTITY = "biolink:InformationContentEntity"
- NUCLEIC_ACID_ENTITY = "biolink:NucleicAcidEntity"
- EVIDENCE_TYPE = "biolink:EvidenceType"
- RNAPRODUCT = "biolink:RNAProduct"
- TRANSCRIPT = "biolink:Transcript"
- FUNGUS = "biolink:Fungus"
- PLANT = "biolink:Plant"
- PROCESSED_MATERIAL = "biolink:ProcessedMaterial"
- ACTIVITY = "biolink:Activity"
- AGENT = "biolink:Agent"
- CONFIDENCE_LEVEL = "biolink:ConfidenceLevel"
- DATASET = "biolink:Dataset"
- ENVIRONMENTAL_FEATURE = "biolink:EnvironmentalFeature"
- GENETIC_INHERITANCE = "biolink:GeneticInheritance"
- HAPLOTYPE = "biolink:Haplotype"
- INVERTEBRATE = "biolink:Invertebrate"
- MAMMAL = "biolink:Mammal"
- POPULATION_OF_INDIVIDUAL_ORGANISMS = "biolink:PopulationOfIndividualOrganisms"
- PROTEIN_FAMILY = "biolink:ProteinFamily"
- PUBLICATION = "biolink:Publication"
- ACCESSIBLE_DNA_REGION = "biolink:AccessibleDnaRegion"
- BACTERIUM = "biolink:Bacterium"
- BIOLOGICAL_SEX = "biolink:BiologicalSex"
- CELL_LINE = "biolink:CellLine"
- CHEMICAL_EXPOSURE = "biolink:ChemicalExposure"
- CHEMICAL_MIXTURE = "biolink:ChemicalMixture"
- DATASET_DISTRIBUTION = "biolink:DatasetDistribution"
- DIAGNOSTIC_AID = "biolink:DiagnosticAid"
- DRUG_EXPOSURE = "biolink:DrugExposure"
- ENVIRONMENTAL_PROCESS = "biolink:EnvironmentalProcess"
- EVENT = "biolink:Event"
- EXON = "biolink:Exon"
- GENOME = "biolink:Genome"
- GENOTYPIC_SEX = "biolink:GenotypicSex"
- HUMAN = "biolink:Human"
- INDIVIDUAL_ORGANISM = "biolink:IndividualOrganism"
- MATERIAL_SAMPLE = "biolink:MaterialSample"
- MICRO_RNA = "biolink:MicroRNA"
- ORGANISMAL_ENTITY = "biolink:OrganismalEntity"
- PATENT = "biolink:Patent"
- PHENOTYPIC_SEX = "biolink:PhenotypicSex"
- POLYPEPTIDE = "biolink:Polypeptide"
- PROTEIN_DOMAIN = "biolink:ProteinDomain"
- REAGENT_TARGETED_GENE = "biolink:ReagentTargetedGene"
- REGULATORY_REGION = "biolink:RegulatoryRegion"
- SI_RNA = "biolink:SiRNA"
- SNV = "biolink:Snv"
- STUDY = "biolink:Study"
- STUDY_VARIABLE = "biolink:StudyVariable"
- TRANSCRIPTION_FACTOR_BINDING_SITE = "biolink:TranscriptionFactorBindingSite"
- TREATMENT = "biolink:Treatment"
- WEB_PAGE = "biolink:WebPage"
- ZYGOSITY = "biolink:Zygosity"
+ MOLECULAR_ENTITY = "biolink:MolecularEntity"
+ LIFE_STAGE = "biolink:LifeStage"
class AssociationCategory(Enum):
@@ -91,32 +28,36 @@ class AssociationCategory(Enum):
PAIRWISE_GENE_TO_GENE_INTERACTION = "biolink:PairwiseGeneToGeneInteraction"
GENE_TO_EXPRESSION_SITE_ASSOCIATION = "biolink:GeneToExpressionSiteAssociation"
- VARIANT_TO_GENE_ASSOCIATION = "biolink:VariantToGeneAssociation"
MACROMOLECULAR_MACHINE_TO_BIOLOGICAL_PROCESS_ASSOCIATION = (
"biolink:MacromolecularMachineToBiologicalProcessAssociation"
)
GENE_TO_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:GeneToPhenotypicFeatureAssociation"
+ ASSOCIATION = "biolink:Association"
MACROMOLECULAR_MACHINE_TO_MOLECULAR_ACTIVITY_ASSOCIATION = (
"biolink:MacromolecularMachineToMolecularActivityAssociation"
)
MACROMOLECULAR_MACHINE_TO_CELLULAR_COMPONENT_ASSOCIATION = (
"biolink:MacromolecularMachineToCellularComponentAssociation"
)
- ASSOCIATION = "biolink:Association"
GENE_TO_GENE_HOMOLOGY_ASSOCIATION = "biolink:GeneToGeneHomologyAssociation"
GENOTYPE_TO_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:GenotypeToPhenotypicFeatureAssociation"
DISEASE_TO_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:DiseaseToPhenotypicFeatureAssociation"
GENE_TO_PATHWAY_ASSOCIATION = "biolink:GeneToPathwayAssociation"
- DISEASE_OR_PHENOTYPIC_FEATURE_TO_LOCATION_ASSOCIATION = "biolink:DiseaseOrPhenotypicFeatureToLocationAssociation"
CHEMICAL_TO_PATHWAY_ASSOCIATION = "biolink:ChemicalToPathwayAssociation"
+ VARIANT_TO_GENE_ASSOCIATION = "biolink:VariantToGeneAssociation"
+ VARIANT_TO_DISEASE_ASSOCIATION = "biolink:VariantToDiseaseAssociation"
GENOTYPE_TO_DISEASE_ASSOCIATION = "biolink:GenotypeToDiseaseAssociation"
CORRELATED_GENE_TO_DISEASE_ASSOCIATION = "biolink:CorrelatedGeneToDiseaseAssociation"
+ CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation"
DISEASE_OR_PHENOTYPIC_FEATURE_TO_GENETIC_INHERITANCE_ASSOCIATION = (
"biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation"
)
- VARIANT_TO_DISEASE_ASSOCIATION = "biolink:VariantToDiseaseAssociation"
CAUSAL_GENE_TO_DISEASE_ASSOCIATION = "biolink:CausalGeneToDiseaseAssociation"
- CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation"
+ DISEASE_OR_PHENOTYPIC_FEATURE_TO_LOCATION_ASSOCIATION = "biolink:DiseaseOrPhenotypicFeatureToLocationAssociation"
+ CHEMICAL_OR_DRUG_OR_TREATMENT_TO_DISEASE_OR_PHENOTYPIC_FEATURE_ASSOCIATION = (
+ "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation"
+ )
+ VARIANT_TO_PHENOTYPIC_FEATURE_ASSOCIATION = "biolink:VariantToPhenotypicFeatureAssociation"
class AssociationPredicate(Enum):
@@ -125,33 +66,40 @@ class AssociationPredicate(Enum):
INTERACTS_WITH = "biolink:interacts_with"
EXPRESSED_IN = "biolink:expressed_in"
HAS_PHENOTYPE = "biolink:has_phenotype"
- IS_SEQUENCE_VARIANT_OF = "biolink:is_sequence_variant_of"
ENABLES = "biolink:enables"
ACTIVELY_INVOLVED_IN = "biolink:actively_involved_in"
ORTHOLOGOUS_TO = "biolink:orthologous_to"
- LOCATED_IN = "biolink:located_in"
SUBCLASS_OF = "biolink:subclass_of"
+ LOCATED_IN = "biolink:located_in"
RELATED_TO = "biolink:related_to"
PARTICIPATES_IN = "biolink:participates_in"
ACTS_UPSTREAM_OF_OR_WITHIN = "biolink:acts_upstream_of_or_within"
- ACTIVE_IN = "biolink:active_in"
+ IS_ACTIVE_IN = "biolink:is_active_in"
PART_OF = "biolink:part_of"
- MODEL_OF = "biolink:model_of"
CAUSES = "biolink:causes"
+ IS_SEQUENCE_VARIANT_OF = "biolink:is_sequence_variant_of"
+ MODEL_OF = "biolink:model_of"
ACTS_UPSTREAM_OF = "biolink:acts_upstream_of"
+ TREATS_OR_APPLIED_OR_STUDIED_TO_TREAT = "biolink:treats_or_applied_or_studied_to_treat"
HAS_MODE_OF_INHERITANCE = "biolink:has_mode_of_inheritance"
- CONTRIBUTES_TO = "biolink:contributes_to"
GENE_ASSOCIATED_WITH_CONDITION = "biolink:gene_associated_with_condition"
- TREATS_OR_APPLIED_OR_STUDIED_TO_TREAT = "biolink:treats_or_applied_or_studied_to_treat"
+ CONTRIBUTES_TO = "biolink:contributes_to"
+ ASSOCIATED_WITH_INCREASED_LIKELIHOOD_OF = "biolink:associated_with_increased_likelihood_of"
COLOCALIZES_WITH = "biolink:colocalizes_with"
+ GENETICALLY_ASSOCIATED_WITH = "biolink:genetically_associated_with"
+ DISEASE_HAS_LOCATION = "biolink:disease_has_location"
ACTS_UPSTREAM_OF_POSITIVE_EFFECT = "biolink:acts_upstream_of_positive_effect"
ACTS_UPSTREAM_OF_OR_WITHIN_POSITIVE_EFFECT = "biolink:acts_upstream_of_or_within_positive_effect"
+ AMELIORATES_CONDITION = "biolink:ameliorates_condition"
ACTS_UPSTREAM_OF_NEGATIVE_EFFECT = "biolink:acts_upstream_of_negative_effect"
ACTS_UPSTREAM_OF_OR_WITHIN_NEGATIVE_EFFECT = "biolink:acts_upstream_of_or_within_negative_effect"
+ PREVENTATIVE_FOR_CONDITION = "biolink:preventative_for_condition"
+ CONTRAINDICATED_IN = "biolink:contraindicated_in"
class MappingPredicate(Enum):
"""Mapping predicates"""
EXACT_MATCH = "skos:exactMatch"
+ CLOSE_MATCH = "skos:closeMatch"
BROAD_MATCH = "skos:broadMatch"
diff --git a/backend/src/monarch_py/datamodels/model.py b/backend/src/monarch_py/datamodels/model.py
index 48bab5f32..4e54c8c9b 100644
--- a/backend/src/monarch_py/datamodels/model.py
+++ b/backend/src/monarch_py/datamodels/model.py
@@ -477,6 +477,11 @@ class Association(ConfiguredBaseModel):
...,
json_schema_extra={"linkml_meta": {"alias": "predicate", "domain_of": ["Association", "CompactAssociation"]}},
)
+ original_predicate: Optional[str] = Field(
+ None,
+ description="""used to hold the original relation/predicate that an external knowledge source uses before transformation to match the biolink-model specification.""",
+ json_schema_extra={"linkml_meta": {"alias": "original_predicate", "domain_of": ["Association"]}},
+ )
object: str = Field(
..., json_schema_extra={"linkml_meta": {"alias": "object", "domain_of": ["Association", "CompactAssociation"]}}
)
@@ -842,6 +847,86 @@ class Association(ConfiguredBaseModel):
}
},
)
+ subject_specialization_qualifier: Optional[str] = Field(
+ None,
+ description="""A qualifier that composes with a core subject/object concept to define a more specific version of the subject concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the subject identifier.""",
+ json_schema_extra={"linkml_meta": {"alias": "subject_specialization_qualifier", "domain_of": ["Association"]}},
+ )
+ subject_specialization_qualifier_label: Optional[str] = Field(
+ None,
+ description="""A label for the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_label", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_namespace: Optional[str] = Field(
+ None,
+ description="""The namespace/prefix of the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_namespace", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_category: Optional[str] = Field(
+ None,
+ description="""The category of the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_category", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_closure: Optional[str] = Field(
+ None,
+ description="""A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_closure", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_closure_label: Optional[str] = Field(
+ None,
+ description="""A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_closure_label", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier: Optional[str] = Field(
+ None,
+ description="""A qualifier that composes with a core subject/object concept to define a more specific version of the object concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the object identifier.""",
+ json_schema_extra={"linkml_meta": {"alias": "object_specialization_qualifier", "domain_of": ["Association"]}},
+ )
+ object_specialization_qualifier_label: Optional[str] = Field(
+ None,
+ description="""A label for the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_label", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_namespace: Optional[str] = Field(
+ None,
+ description="""The namespace/prefix of the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_namespace", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_category: Optional[str] = Field(
+ None,
+ description="""The category of the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_category", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_closure: Optional[str] = Field(
+ None,
+ description="""A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_closure", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_closure_label: Optional[str] = Field(
+ None,
+ description="""A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_closure_label", "domain_of": ["Association"]}
+ },
+ )
class AssociationCountList(ConfiguredBaseModel):
@@ -1163,6 +1248,11 @@ class DirectionalAssociation(Association):
...,
json_schema_extra={"linkml_meta": {"alias": "predicate", "domain_of": ["Association", "CompactAssociation"]}},
)
+ original_predicate: Optional[str] = Field(
+ None,
+ description="""used to hold the original relation/predicate that an external knowledge source uses before transformation to match the biolink-model specification.""",
+ json_schema_extra={"linkml_meta": {"alias": "original_predicate", "domain_of": ["Association"]}},
+ )
object: str = Field(
..., json_schema_extra={"linkml_meta": {"alias": "object", "domain_of": ["Association", "CompactAssociation"]}}
)
@@ -1528,6 +1618,86 @@ class DirectionalAssociation(Association):
}
},
)
+ subject_specialization_qualifier: Optional[str] = Field(
+ None,
+ description="""A qualifier that composes with a core subject/object concept to define a more specific version of the subject concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the subject identifier.""",
+ json_schema_extra={"linkml_meta": {"alias": "subject_specialization_qualifier", "domain_of": ["Association"]}},
+ )
+ subject_specialization_qualifier_label: Optional[str] = Field(
+ None,
+ description="""A label for the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_label", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_namespace: Optional[str] = Field(
+ None,
+ description="""The namespace/prefix of the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_namespace", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_category: Optional[str] = Field(
+ None,
+ description="""The category of the subject_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_category", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_closure: Optional[str] = Field(
+ None,
+ description="""A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_closure", "domain_of": ["Association"]}
+ },
+ )
+ subject_specialization_qualifier_closure_label: Optional[str] = Field(
+ None,
+ description="""A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "subject_specialization_qualifier_closure_label", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier: Optional[str] = Field(
+ None,
+ description="""A qualifier that composes with a core subject/object concept to define a more specific version of the object concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the object identifier.""",
+ json_schema_extra={"linkml_meta": {"alias": "object_specialization_qualifier", "domain_of": ["Association"]}},
+ )
+ object_specialization_qualifier_label: Optional[str] = Field(
+ None,
+ description="""A label for the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_label", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_namespace: Optional[str] = Field(
+ None,
+ description="""The namespace/prefix of the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_namespace", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_category: Optional[str] = Field(
+ None,
+ description="""The category of the object_specialization_qualifier""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_category", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_closure: Optional[str] = Field(
+ None,
+ description="""A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_closure", "domain_of": ["Association"]}
+ },
+ )
+ object_specialization_qualifier_closure_label: Optional[str] = Field(
+ None,
+ description="""A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors""",
+ json_schema_extra={
+ "linkml_meta": {"alias": "object_specialization_qualifier_closure_label", "domain_of": ["Association"]}
+ },
+ )
class ExpandedCurie(ConfiguredBaseModel):
diff --git a/backend/src/monarch_py/datamodels/model.yaml b/backend/src/monarch_py/datamodels/model.yaml
index 5dda05399..9da15db82 100644
--- a/backend/src/monarch_py/datamodels/model.yaml
+++ b/backend/src/monarch_py/datamodels/model.yaml
@@ -37,6 +37,7 @@ classes:
- subject_taxon
- subject_taxon_label
- predicate
+ - original_predicate
- object
- original_object
- object_namespace
@@ -98,6 +99,18 @@ classes:
- species_context_qualifier_label
- species_context_qualifier_namespace
- species_context_qualifier_category
+ - subject_specialization_qualifier
+ - subject_specialization_qualifier_label
+ - subject_specialization_qualifier_namespace
+ - subject_specialization_qualifier_category
+ - subject_specialization_qualifier_closure
+ - subject_specialization_qualifier_closure_label
+ - object_specialization_qualifier
+ - object_specialization_qualifier_label
+ - object_specialization_qualifier_namespace
+ - object_specialization_qualifier_category
+ - object_specialization_qualifier_closure
+ - object_specialization_qualifier_closure_label
AssociationCount:
is_a: FacetValue
slots:
@@ -550,6 +563,11 @@ slots:
range: string
original_object:
range: string
+ original_predicate:
+ range: string
+ description: >-
+ used to hold the original relation/predicate that an external knowledge
+ source uses before transformation to match the biolink-model specification.
original_subject:
range: string
pathway:
@@ -743,6 +761,60 @@ slots:
is_a: category
description: The category of the species_context_qualifier entity
# sssom slots
+ subject_specialization_qualifier:
+ range: string
+ description: >-
+ A qualifier that composes with a core subject/object concept to define a more specific version of the
+ subject concept, specifically using an ontology term that is not a subclass or descendant of the core concept
+ and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the
+ subject identifier.
+ subject_specialization_qualifier_label:
+ range: string
+ description: >-
+ A label for the subject_specialization_qualifier
+ subject_specialization_qualifier_namespace:
+ range: string
+ description: >-
+ The namespace/prefix of the subject_specialization_qualifier
+ subject_specialization_qualifier_category:
+ range: string
+ description: >-
+ The category of the subject_specialization_qualifier
+ subject_specialization_qualifier_closure:
+ range: string
+ description: >-
+ A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors
+ subject_specialization_qualifier_closure_label:
+ range: string
+ description: >-
+ A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors
+ object_specialization_qualifier:
+ range: string
+ description: >-
+ A qualifier that composes with a core subject/object concept to define a more specific version of the
+ object concept, specifically using an ontology term that is not a subclass or descendant of the core concept
+ and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the
+ object identifier.
+ object_specialization_qualifier_label:
+ range: string
+ description: >-
+ A label for the object_specialization_qualifier
+ object_specialization_qualifier_namespace:
+ range: string
+ description: >-
+ The namespace/prefix of the object_specialization_qualifier
+ object_specialization_qualifier_category:
+ range: string
+ description: >-
+ The category of the object_specialization_qualifier
+ object_specialization_qualifier_closure:
+ range: string
+ description: >-
+ A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors
+ object_specialization_qualifier_closure_label:
+ range: string
+ description: >-
+ A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors
mappings:
description: List of ExpandedCuries with id and url for mapped entities
range: ExpandedCurie
diff --git a/backend/src/monarch_py/implementations/solr/solr_parsers.py b/backend/src/monarch_py/implementations/solr/solr_parsers.py
index 4753ed821..9ae969a19 100644
--- a/backend/src/monarch_py/implementations/solr/solr_parsers.py
+++ b/backend/src/monarch_py/implementations/solr/solr_parsers.py
@@ -91,7 +91,7 @@ def parse_associations(
def parse_association_counts(query_result: SolrQueryResult, entity: str) -> AssociationCountList:
subject_query = f'AND (subject:"{entity}" OR subject_closure:"{entity}")'
- object_query = f'AND (object:"{entity}" OR object_closure:"{entity}")'
+ object_query = f'AND (object:"{entity}" OR object_closure:"{entity}" OR disease_context_qualifier:"{entity}" OR disease_context_qualifier_closure:"{entity}")'
association_count_dict: Dict[str, AssociationCount] = {}
for k, v in query_result.facet_counts.facet_queries.items():
if v > 0:
@@ -258,6 +258,13 @@ def get_association_direction(entity: List[str], document: Dict) -> AssociationD
document.get("object_closure") and any(e in document.get("object_closure") for e in entity)
):
direction = AssociationDirectionEnum.incoming
+ elif document.get("disease_context_qualifier") in entity or (
+ document.get("disease_context_qualifier_closure")
+ and any(e in document.get("disease_context_qualifier_closure") for e in entity)
+ ):
+ # This is a special case for disease_context_qualifier, if an association between two other entities
+ # only occurs within the context of a disease, we can treat it like an incoming association
+ direction = AssociationDirectionEnum.incoming
else:
raise ValueError(f"Entity {entity} not found in association {document}")
return direction
diff --git a/backend/src/monarch_py/implementations/solr/solr_query_utils.py b/backend/src/monarch_py/implementations/solr/solr_query_utils.py
index bd9e24ec2..1dbcaf052 100644
--- a/backend/src/monarch_py/implementations/solr/solr_query_utils.py
+++ b/backend/src/monarch_py/implementations/solr/solr_query_utils.py
@@ -30,6 +30,8 @@ def build_association_query(
offset: int = 0,
limit: int = 20,
) -> SolrQuery:
+
+ entity_fields = ["subject", "object", "disease_context_qualifier"]
"""Populate a SolrQuery object with association filters"""
query = SolrQuery(start=offset, rows=limit)
query.add_field_filter_query("category", None if not category else [c for c in category])
@@ -54,12 +56,10 @@ def build_association_query(
query.add_filter_query(" OR ".join([f'object:"{o}" OR object_closure:"{o}"' for o in object]))
if entity:
if direct:
- query.add_filter_query(" OR ".join([f'subject:"{e}" OR object:"{e}"' for e in entity]))
+ query.add_filter_query(" OR ".join([f'{field}:"{e}"' for e in entity for field in entity_fields]))
else:
query.add_filter_query(
- " OR ".join(
- [f'subject:"{e}" OR subject_closure:"{e}" OR object:"{e}" OR object_closure:"{e}"' for e in entity]
- )
+ " OR ".join([f'{field}:"{e}" OR {field}_closure:"{e}"' for e in entity for field in entity_fields])
)
if q:
# We don't yet have tokenization strategies for the association index, initially we'll limit searching to
@@ -118,7 +118,8 @@ def build_association_table_query(
def build_association_counts_query(entity: str) -> SolrQuery:
subject_query = f'AND (subject:"{entity}" OR subject_closure:"{entity}")'
- object_query = f'AND (object:"{entity}" OR object_closure:"{entity}")'
+ object_query = f'AND (object:"{entity}" OR object_closure:"{entity}" OR disease_context_qualifier:"{entity}" OR disease_context_qualifier_closure:"{entity}")'
+
# Run the same facet_queries constrained to matches against either the subject or object
# to know which kind of label will be needed in the UI to refer to the opposite side of the association
facet_queries = []
diff --git a/backend/src/monarch_py/implementations/spacy/spacy_implementation.py b/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
index 431c2fe3f..7a29316c6 100644
--- a/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
+++ b/backend/src/monarch_py/implementations/spacy/spacy_implementation.py
@@ -10,6 +10,7 @@
import pystow
import tarfile
+
@dataclass
class SpacyImplementation(TextAnnotatorInterface):
"""Implementation of Monarch Interfaces for SPACY"""
@@ -32,13 +33,24 @@ def init_spacy(self, grounding_implementation: GroundingInterface):
with tarfile.open(model_archive, "r:gz") as tar:
tar.extractall(path=model_dir.parent)
- model_subdir = next((d for d in model_archive.parent.iterdir() if d.is_dir() and d.name.startswith("en_core_sci")), None)
+ model_subdir = next(
+ (d for d in model_archive.parent.iterdir() if d.is_dir() and d.name.startswith("en_core_sci")), None
+ )
if model_subdir:
- inner_model_dir = next((d for d in model_subdir.iterdir() if d.is_dir() and d.name.startswith("en_core_sci") and "egg-info" not in d.name), None)
+ inner_model_dir = next(
+ (
+ d
+ for d in model_subdir.iterdir()
+ if d.is_dir() and d.name.startswith("en_core_sci") and "egg-info" not in d.name
+ ),
+ None,
+ )
if inner_model_dir:
# Load the model
- self.nlp = spacy.load(str(str(model_archive.parent / model_subdir.name / inner_model_dir.name / model_subdir.name)))
+ self.nlp = spacy.load(
+ str(str(model_archive.parent / model_subdir.name / inner_model_dir.name / model_subdir.name))
+ )
# Assign the grounding implementation
self.grounding_implementation = grounding_implementation
@@ -46,8 +58,6 @@ def init_spacy(self, grounding_implementation: GroundingInterface):
# Test the model with a sample sentence
self.nlp("Nystagmus, strabismus, fundus, ocular albinism, lewis.")
-
-
def get_annotated_entities(self, text) -> List[TextAnnotationResult]:
"""Annotate text using SPACY"""
results: List[TextAnnotationResult] = []
diff --git a/backend/src/monarch_py/utils/association_type_mappings.yaml b/backend/src/monarch_py/utils/association_type_mappings.yaml
index a72582d1c..9e1c0a49b 100644
--- a/backend/src/monarch_py/utils/association_type_mappings.yaml
+++ b/backend/src/monarch_py/utils/association_type_mappings.yaml
@@ -47,4 +47,7 @@
category: "biolink:GenotypeToPhenotypicFeatureAssociation"
- subject_label: Disease Model
object_label: Disease Model
- category: "biolink:GenotypeToDiseaseAssociation"
\ No newline at end of file
+ category: "biolink:GenotypeToDiseaseAssociation"
+- subject_label: Medical Action
+ object_label: Medical Action
+ category: "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation"
\ No newline at end of file
diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py
index 1764cf63a..cdea16fe4 100644
--- a/backend/tests/fixtures/association_counts.py
+++ b/backend/tests/fixtures/association_counts.py
@@ -7,12 +7,18 @@ def association_counts():
"items": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4077,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation",
},
+ {"label": "Gene to Phenotype", "count": 6350, "category": "biolink:GeneToPhenotypicFeatureAssociation"},
{"label": "Causal Gene", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"},
{"label": "Correlated Gene", "count": 150, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
{"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"},
- {"label": "Disease Model", "count": 238, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {"label": "Disease Model", "count": 239, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {
+ "label": "Medical Action",
+ "count": 4,
+ "category": "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation",
+ },
]
}
diff --git a/backend/tests/fixtures/association_counts_query.py b/backend/tests/fixtures/association_counts_query.py
index 848ec8ba0..2eed08505 100644
--- a/backend/tests/fixtures/association_counts_query.py
+++ b/backend/tests/fixtures/association_counts_query.py
@@ -27,25 +27,27 @@ def association_counts_query():
'(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
'(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
'(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
- '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
+ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
],
"filter_queries": [
- 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"'
+ 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121"'
],
"facet_mincount": 1,
"query_fields": None,
diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py
index 508b173a7..6e291b52e 100644
--- a/backend/tests/fixtures/association_counts_response.py
+++ b/backend/tests/fixtures/association_counts_response.py
@@ -5,7 +5,7 @@
def association_counts_response():
return {
"responseHeader": {
- "QTime": 2,
+ "QTime": 6,
"params": {
"facet.query": [
'(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
@@ -24,22 +24,24 @@ def association_counts_response():
'(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
'(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
'(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
- '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
- '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")',
+ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")',
],
"mm": "100%",
"q": "*:*",
@@ -47,2366 +49,3772 @@ def association_counts_response():
"facet_min_count": "1",
"start": "0",
"q.op": "AND",
- "fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
+ "fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121"',
"facet.mincount": "1",
"rows": "20",
"facet": "true",
},
},
"response": {
- "num_found": 5079,
+ "num_found": 11435,
"start": 0,
"docs": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0100531",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b6907-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002465",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Poor speech",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "HP:0002465",
+ "UPHENO:0002433",
+ "HP:0002167",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UBERON:0000465",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0025792",
+ "UPHENO:0002530",
+ "HP:0034434",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
+ "UPHENO:0002385",
+ "BFO:0000040",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "HP:4000072",
+ "UPHENO:0001003",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "Poor speech",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular anatomical structure",
+ "Abnormal speech pattern",
+ "multicellular anatomical structure phenotype",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "phenotype",
+ "Abnormal language feature",
+ "phenotypic effect",
+ "Abnormal communication",
+ "All",
+ "Abnormal cognitive process",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
- "BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0100531",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "disease",
- "familial cardiomyopathy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002465",
+ },
+ {
+ "id": "uuid:b35b6909-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002435",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Meningocele",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0034238",
+ "UPHENO:0081581",
+ "UPHENO:0051150",
+ "HP:0002435",
+ "UPHENO:0076702",
+ "UBERON:0005423",
+ "UPHENO:0076791",
+ "HP:0000707",
+ "UPHENO:0076692",
+ "UBERON:0006598",
+ "UBERON:0001017",
+ "UBERON:0002360",
+ "UBERON:0010371",
+ "UBERON:0016880",
+ "UBERON:0016879",
+ "UBERON:0000483",
+ "UBERON:0005291",
+ "UBERON:0003914",
+ "GO:0009790",
+ "GO:0048729",
+ "GO:0048598",
+ "GO:0035239",
+ "GO:0035148",
+ "GO:0009888",
+ "GO:0048731",
+ "GO:0035295",
+ "GO:0009792",
+ "GO:0002009",
+ "GO:0016331",
+ "GO:0060562",
+ "GO:0072175",
+ "GO:0060429",
+ "GO:0060606",
+ "GO:0007399",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002525",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "GO:0001841",
+ "GO:0014020",
+ "HP:0045005",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UBERON:0001016",
+ "UBERON:0001049",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "GO:0009653",
+ "GO:0048646",
+ "GO:0048856",
+ "UPHENO:0051077",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0034925",
+ "GO:0032501",
+ "GO:0032502",
+ "UBERON:0000094",
+ "UBERON:0000025",
+ "UBERON:0000922",
+ "UPHENO:0001002",
+ "UPHENO:0049623",
+ "UPHENO:0050108",
+ "UBERON:0002050",
+ "GO:0008150",
+ "UBERON:0011216",
+ "GO:0007275",
+ "UPHENO:0002949",
+ "HP:0410043",
+ "UPHENO:0004523",
+ "HP:0010651",
+ "BFO:0000002",
+ "BFO:0000003",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0021915",
+ "UPHENO:0001001",
+ "UPHENO:0002548",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "UBERON:0000479",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0000468",
+ "GO:0043009",
+ "GO:0001838",
+ "GO:0001843",
+ "UPHENO:0051003",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UBERON:0010743",
+ ],
+ "object_closure_label": [
+ "material anatomical entity phenotype",
+ "Abnormal neural tube morphology",
+ "nervous system phenotype",
+ "Meningocele",
+ "nervous system morphology phenotype",
+ "biological_process",
+ "tissue",
+ "organ",
+ "anatomical conduit",
+ "multicellular organism",
+ "multicellular organism development",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "tube closure phenotype",
+ "biological_process phenotype",
+ "independent continuant",
+ "embryonic structure",
+ "material entity",
+ "membrane organ",
+ "tube",
+ "embryo",
+ "Closed neural tube defect",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity",
+ "developing anatomical structure",
+ "presumptive structure",
+ "chordate embryonic development",
+ "embryonic epithelial tube formation",
+ "neural tube closure",
+ "neural tube closure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "meninx",
+ "ecto-epithelium",
+ "future nervous system",
+ "future central nervous system",
+ "epithelium",
+ "embryonic tissue",
+ "tube formation phenotype",
+ "anatomical structure",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "epithelial tube",
+ "neural tube formation",
+ "primary neural tube formation",
+ "phenotypic effect",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "developmental process phenotype",
+ "multicellular organism morphology phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "neural tube",
+ "central nervous system morphology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "embryo development ending in birth or egg hatching",
+ "morphogenesis of an epithelium",
+ "morphogenesis of embryonic epithelium",
+ "epithelial tube morphogenesis",
+ "epithelial tube formation",
+ "epithelium development",
+ "tube closure",
+ "nervous system development",
+ "phenotype",
+ "Abnormal meningeal morphology",
+ "continuant",
+ "occurrent",
+ "process",
+ "meningeal cluster",
+ "multicellular organismal process",
+ "developmental process",
+ "anatomical structure morphogenesis",
+ "anatomical structure formation involved in morphogenesis",
+ "anatomical structure development",
+ "embryo development",
+ "tissue morphogenesis",
+ "embryonic morphogenesis",
+ "tube morphogenesis",
+ "tube formation",
+ "tissue development",
+ "system development",
+ "tube development",
+ "All",
+ "Neural tube defect",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "nervous system",
+ "neural tube development",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
"myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "continuant",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002435",
},
{
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0700075",
- "object": "MONDO:0019950",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
+ "id": "uuid:b35b690c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0010864",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability, severe",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
+ "BFO:0000002",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0000061",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "BFO:0000040",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0001003",
+ "HP:0010864",
+ "BFO:0000015",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "material anatomical entity",
+ "Intellectual disability, severe",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "Abnormal nervous system physiology",
+ "occurrent",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
"MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0018276",
"MONDO:0020120",
- "MONDO:0700069",
"MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
"MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
+ "disorder of glycosylation",
"hereditary neuromuscular disease",
"hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0010864",
+ },
+ {
+ "id": "uuid:b35b6915-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0003712",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Skeletal muscle hypertrophy",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0081581",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0001001",
+ "HP:0003712",
+ "UPHENO:0001002",
+ "HP:0030236",
+ "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "HP:0011805",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
+ ],
+ "object_closure_label": [
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "phenotype",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system phenotype",
+ "Abnormality of muscle size",
+ "skeletal musculature",
+ "muscle structure",
+ "organ system subdivision phenotype",
+ "entity",
+ "Abnormal skeletal muscle morphology",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "Skeletal muscle hypertrophy",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "musculature of body",
+ "All",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0003712",
},
{
- "id": "urn:uuid:2f87c310-fec5-4095-8401-bf84c89fc569",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0700075",
- "object": "MONDO:0700069",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
- "MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
+ "id": "uuid:b35b6918-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001276",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypertonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "HP:0001276",
+ "UPHENO:0002308",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0015286",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "Hypertonia",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "material anatomical entity",
+ "anatomical structure",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "organ phenotype",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "musculature of body",
+ "phenotypic effect",
+ "continuant",
+ "independent continuant",
+ "All",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
"myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "myopathy caused by variation in POMGNT2",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001276",
+ },
+ {
+ "id": "uuid:b35b691a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001270",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Motor delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "MONDO:0045010",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0700069",
- "OGMS:0000031",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "BFO:0000017",
- "BFO:0000016",
- "MONDO:0017741",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0015286",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0024322",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "realizable entity",
- "entity",
- "inborn errors of metabolism",
- "continuant",
- "musculoskeletal system disorder",
- "disposition",
- "hereditary skeletal muscle disorder",
- "disease",
"disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "metabolic disease",
- "glycoprotein metabolism disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
},
{
- "id": "urn:uuid:385545b5-6092-4884-9e9c-eaa9e271f3aa",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0800209",
- "object": "MONDO:0007614",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "MONDO:0800209",
+ "id": "uuid:b35b691c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0001270",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Motor delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "fibrosis of extraocular muscles, congenital, 3b",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "object_label": "congenital fibrosis of extraocular muscles",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ },
+ {
+ "id": "uuid:b35b691e-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040281",
+ "subject": "HGNC:22932",
+ "object": "HP:0001288",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Gait disturbance",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UPHENO:0049708",
+ "UPHENO:0079833",
+ "UPHENO:0049703",
+ "HP:0000707",
+ "UPHENO:0002525",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "HP:0000001",
+ "UPHENO:0050613",
+ "UPHENO:0002530",
+ "UPHENO:0050606",
+ "UPHENO:0002536",
+ "UPHENO:0079826",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UBERON:0001016",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0049699",
+ "UBERON:0000061",
+ "UPHENO:0049622",
+ "HP:0100022",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0032501",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "HP:0001288",
+ "GO:0008150",
+ "UBERON:0000468",
+ "GO:0050879",
+ "GO:0007610",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "BFO:0000003",
+ "NBO:0000403",
+ "NBO:0000001",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "UPHENO:0049587",
"BFO:0000001",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "multicellular organismal movement",
+ "behavior",
+ "system process",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "phenotype",
+ "biological_process phenotype",
+ "anatomical system physiology phenotype",
+ "behavior phenotype",
+ "anatomical system phenotype",
+ "Gait disturbance",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "nervous system process phenotype",
+ "voluntary movement behavior phenotype",
+ "entity",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "multicellular organismal movement phenotype",
+ "taxon specific phenotype",
+ "material anatomical entity",
+ "continuant",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
+ "anatomical entity phenotype",
+ "behavior process phenotype",
+ "anatomical structure phenotype",
+ "occurrent",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "All",
+ "musculoskeletal movement phenotype",
+ "system process phenotype",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "multicellular anatomical structure",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
"myopathy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001288",
},
{
- "id": "urn:uuid:2b6bf9c8-5099-414e-9bfc-eef68b3929fd",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0800318",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "BFO:0000016",
+ "id": "uuid:b35b6924-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001250",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Seizure",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0005267",
- "BFO:0000020",
- "MONDO:0800318",
- "MONDO:0700223",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "Emery-Dreifuss muscular dystrophy 6, X-linked",
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "heart disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "disposition",
+ "multicellular anatomical structure",
+ "nervous system",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
"myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "continuant",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0800318||biolink:subclass_of|MONDO:0010680",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
},
{
- "id": "urn:uuid:2d992073-c362-4676-a4fb-5c725f8175d1",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0957270",
- "object": "MONDO:0015152",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b6925-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001250",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Seizure",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000002",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
"MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
"MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
"MONDO:0015152",
- "MONDO:0957270",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
"autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 28",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
+ "congenital disorder of glycosylation",
"limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ },
+ {
+ "id": "uuid:b35b6929-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001252",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypotonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0015152",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
},
{
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958077",
- "object": "MONDO:0019950",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b692a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001252",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypotonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
"skeletal muscle disorder",
"neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
+ "glycoprotein metabolism disease",
"congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
"human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
},
{
- "id": "urn:uuid:cdf868e1-085e-4f2a-a113-759256c509d8",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958176",
- "object": "MONDO:0008116",
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
+ "id": "uuid:b35b692f-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040281",
+ "subject": "HGNC:22932",
+ "object": "HP:0001249",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0008116",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0958176",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "oculopharyngeal muscular dystrophy 1",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ },
+ {
+ "id": "uuid:b35b6930-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001249",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
},
{
- "id": "urn:uuid:034d4f2c-a3f6-42f6-afa6-dddaac5b15a7",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958195",
- "object": "MONDO:0008116",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "id": "uuid:b35b6933-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001263",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Global developmental delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0958195",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "BFO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ },
+ {
+ "id": "uuid:b35b6935-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001263",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Global developmental delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
],
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
"entity",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958195||biolink:subclass_of|MONDO:0008116",
- },
- {
- "id": "urn:uuid:0768c5ef-9fcd-4678-a304-dcca1ad4f13b",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958233",
- "object": "MONDO:0008029",
- "subject_label": "Bethlem myopathy 1B",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0958233",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "Bethlem myopathy 1B",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "congenital muscular dystrophy",
- ],
- "object_label": "Bethlem myopathy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958233||biolink:subclass_of|MONDO:0008029",
- },
- {
- "id": "urn:uuid:d1747e5a-0b37-4bcf-8ec8-cbc9d5fca0bb",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958234",
- "object": "MONDO:0008029",
- "subject_label": "Bethlem myopathy 1C",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958234",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
"MONDO:0000001",
- ],
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "Bethlem myopathy 1C",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "congenital muscular dystrophy",
- ],
- "object_label": "Bethlem myopathy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958234||biolink:subclass_of|MONDO:0008029",
- },
- {
- "id": "urn:uuid:5222c632-e6ff-48d6-aa6e-bee3197db19b",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958235",
- "object": "MONDO:0000355",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
"MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
"MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "Ullrich congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
"MONDO:0020120",
"MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958235||biolink:subclass_of|MONDO:0000355",
- },
- {
- "id": "urn:uuid:89e5d336-99af-4738-beba-65d47ba9bc21",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958236",
- "object": "MONDO:0000355",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958236",
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Ullrich congenital muscular dystrophy 1C",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "object_label": "Ullrich congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
"hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958236||biolink:subclass_of|MONDO:0000355",
- },
- {
- "id": "urn:uuid:87e4a926-68eb-4211-8062-81a54a0514e4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958353",
- "object": "MONDO:0958077",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958353",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "intermediate collagen VI-related muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "collagen 6-related congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- },
- {
- "id": "urn:uuid:f170926f-95a4-42ad-991e-c6ef1fcb6f75",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0971171",
- "object": "MONDO:0015152",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000002",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "BFO:0000017",
- "MONDO:0971171",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "autosomal recessive limb-girdle muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- ],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0971171||biolink:subclass_of|MONDO:0015152",
- },
- {
- "id": "urn:uuid:0cf00103-088b-4832-b0db-27a8c44d47e5",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:1040033",
- "object": "MONDO:0019950",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:1040033",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000020",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "congenital muscular dystrophy without intellectual disability",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:1040033||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
},
{
- "id": "191417f1-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11727",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:3817493",
- "object": "MONDO:0001347",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b6938-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007360",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UBERON:0000465",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0003936",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0010000",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0001001",
+ "UPHENO:0080079",
+ "UPHENO:0003952",
+ "UPHENO:0076720",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002037",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0002977",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "UBERON:0001062",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "HP:0007360",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "NCBITaxon:1",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "BFO:0000004",
+ "UPHENO:0002548",
+ "HP:0001317",
+ "UPHENO:0075948",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UPHENO:0003459",
+ "UPHENO:0002765",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0080089",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ "UBERON:0001017",
+ ],
+ "object_closure_label": [
+ "material anatomical entity phenotype",
+ "cerebellum phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "Abnormal cerebellum morphology",
+ "metencephalon phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "independent continuant",
+ "material entity",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "organ subunit phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "organ part phenotype",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "cerebellum",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "material anatomical entity",
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "continuant",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "central nervous system",
+ "All",
+ "Abnormality of the nervous system",
+ "entity",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0019303",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:3817493||biolink:model_of|MONDO:0001347",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007360",
},
{
- "id": "19141853-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11723",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:5529018",
- "object": "MONDO:0010679",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "Duchenne muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b6939-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007361",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Abnormal pons morphology",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "UBERON:0000061",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "UPHENO:0076808",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0003952",
+ "UPHENO:0076805",
+ "UPHENO:0002530",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002298",
+ "UBERON:0000988",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0002363",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0081582",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "UPHENO:0002949",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "UPHENO:0004523",
+ "UPHENO:0003063",
+ "NCBITaxon:1",
+ "UBERON:0001062",
+ "UPHENO:0075948",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "UBERON:0000062",
+ "UPHENO:0003459",
+ "HP:0007361",
+ "UPHENO:0002765",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ ],
+ "object_closure_label": [
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "hindbrain phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "pons morphology phenotype",
+ "metencephalon phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "material entity",
+ "Abnormal brainstem morphology",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "Eukaryota",
+ "anatomical structure",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "Abnormal pons morphology",
+ "organ subunit phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "organ part phenotype",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "brainstem",
+ "pons",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "anatomical entity",
+ "continuant",
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "pons phenotype",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "All",
+ "brainstem morphology phenotype",
+ "Abnormality of the nervous system",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:5529018||biolink:model_of|MONDO:0010679",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007361",
},
{
- "id": "1914187f-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11723",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:6438177",
- "object": "MONDO:0010679",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "Duchenne muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b693a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007340",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Lower limb muscle weakness",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0080575",
+ "HP:0009127",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0010709",
+ "UBERON:0014892",
+ "HP:0000001",
+ "HP:0003690",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000026",
+ "UBERON:0000383",
+ "UPHENO:0002861",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "UPHENO:0002830",
+ "UBERON:0010707",
+ "UBERON:0004480",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0010890",
+ "UPHENO:0002320",
+ "UPHENO:0002526",
+ "UPHENO:0002308",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002945",
+ "UPHENO:0003022",
+ "HP:0040064",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UBERON:0004708",
+ "UPHENO:0002847",
+ "HP:0011805",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ ],
+ "object_closure_label": [
+ "Lower limb muscle weakness",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "limb",
+ "appendage phenotype",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "anatomical structure",
+ "skeletal muscle organ, vertebrate",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "muscle structure physiology phenotype",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical structure physiology phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "decreased anatomical entity strength",
+ "organ system subdivision phenotype",
+ "entity",
+ "pelvic complex",
+ "musculature of limb",
+ "decreased pelvic complex muscle strength",
+ "Abnormal skeletal muscle morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limbs",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "organism subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
+ "limb phenotype",
+ "anatomical system",
+ "muscle organ",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "appendage girdle complex",
+ "appendage",
+ "musculature of body",
+ "paired limb/fin",
+ "phenotype",
+ "musculature of pelvic complex phenotype",
+ "phenotypic effect",
+ "system",
+ "All",
+ "organ phenotype",
+ "Limb muscle weakness",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007340",
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11727",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:5524138",
- "object": "MONDO:0001347",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b693c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002518",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Abnormal periventricular white matter morphology",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "HP:0010993",
+ "UPHENO:0002874",
+ "UPHENO:0002834",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "UPHENO:0087531",
+ "UPHENO:0076791",
+ "UPHENO:0087518",
+ "UPHENO:0081562",
+ "UPHENO:0074038",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UPHENO:0074051",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000454",
+ "UBERON:0000955",
+ "UBERON:0002316",
+ "UBERON:0003544",
+ "HP:0000001",
+ "HP:0002060",
+ "UPHENO:0073898",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0073978",
+ "UPHENO:0002570",
+ "UPHENO:0002525",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UBERON:0002437",
+ "UPHENO:0074028",
+ "UPHENO:0002538",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "NCBITaxon:33154",
+ "UBERON:0001869",
+ "UBERON:0011215",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0001893",
+ "UBERON:0001890",
+ "UBERON:0019261",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "UPHENO:0002736",
+ "HP:0000118",
+ "HP:0002011",
+ "HP:0002500",
+ "UPHENO:0089366",
+ "UPHENO:0002963",
+ "UPHENO:0003030",
+ "UPHENO:0002841",
+ "UBERON:0001062",
+ "UBERON:0015212",
+ "UBERON:0005162",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "HP:0002518",
+ "UPHENO:0073911",
+ "HP:0100547",
+ "UPHENO:0074054",
+ "UPHENO:0073937",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UPHENO:0074036",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UPHENO:0002873",
+ "NCBITaxon:1",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0003001",
+ "UPHENO:0087902",
+ "UPHENO:0076799",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0002352",
+ "UPHENO:0073886",
+ "UPHENO:0074037",
+ "UPHENO:0002731",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "UPHENO:0081435",
+ "HP:0012639",
+ "UPHENO:0004621",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
+ "BFO:0000040",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0011299",
+ ],
+ "object_closure_label": [
+ "cerebral hemisphere morphology phenotype",
+ "anatomical entity degeneration in central nervous system",
+ "material anatomical entity phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "multi cell part structure degeneration",
+ "central nervous system cell part cluster phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "Abnormal cerebral white matter morphology",
+ "multicellular organism phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "Abnormal nervous system morphology",
+ "forebrain phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "white matter of telencephalon",
+ "cerebral hemisphere white matter phenotype",
+ "white matter of telencephalon phenotype",
+ "independent continuant",
+ "brain morphology phenotype",
+ "telencephalon morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "multicellular anatomical structure phenotype",
+ "brain white matter phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "regional part of nervous system phenotype",
+ "cerebral hemisphere white matter degeneration",
+ "lateral structure phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "central nervous system",
+ "regional part of brain",
+ "cerebral subcortex",
+ "brain",
+ "white matter",
+ "white matter of forebrain",
+ "telencephalon phenotype",
+ "brain white matter morphology phenotype",
+ "material anatomical entity degeneration",
+ "anatomical entity degeneration",
+ "organ part phenotype",
+ "organ system subdivision",
+ "brain white matter",
+ "cerebral hemisphere white matter",
+ "phenotypic effect",
+ "white matter degeneration",
+ "Abnormal periventricular white matter morphology",
+ "ectoderm-derived structure degeneration",
+ "Abnormal forebrain morphology",
+ "brain white matter degeneration",
+ "multicellular organism morphology phenotype",
+ "white matter of forebrain phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "telencephalon",
+ "forebrain",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "forebrain morphology phenotype",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral subcortex morphology",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "continuant",
+ "Opisthokonta",
+ "cerebral hemisphere",
+ "central nervous system cell part cluster",
+ "phenotype",
+ "Leukoencephalopathy",
+ "anatomical entity phenotype",
+ "anatomical structure degeneration",
+ "white matter phenotype",
+ "white matter of telencephalon degeneration",
+ "material entity",
+ "multi-tissue structure",
+ "organ part",
+ "All",
+ "Abnormal cerebral morphology",
+ "central nervous system cell part cluster degeneration",
+ "cerebral hemisphere white matter morphology phenotype",
+ "white matter of forebrain degeneration",
+ "Abnormality of the nervous system",
+ "multi cell part structure phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multi cell part structure",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0019303",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002518",
},
],
},
"facet_counts": {
"facet_fields": {},
"facet_queries": {
- '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4082,
+ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4077,
'(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:PairwiseGeneToGeneInteraction") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:GeneToPathwayAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
@@ -2422,22 +3830,24 @@ def association_counts_response():
'(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
'(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
- '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 125,
- '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 150,
- '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 1,
- '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0,
- '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 238,
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 6350,
+ '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:GeneToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:GeneToExpressionSiteAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:GeneToGeneHomologyAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:ChemicalToPathwayAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:MacromolecularMachineToMolecularActivityAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:MacromolecularMachineToCellularComponentAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 125,
+ '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 150,
+ '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 1,
+ '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 0,
+ '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 239,
+ '(category:"biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121")': 4,
},
},
}
diff --git a/backend/tests/fixtures/association_query_direct.py b/backend/tests/fixtures/association_query_direct.py
index b8c2c2edc..e71082567 100644
--- a/backend/tests/fixtures/association_query_direct.py
+++ b/backend/tests/fixtures/association_query_direct.py
@@ -24,7 +24,7 @@ def association_query_direct():
"object_taxon:NCBITaxon\\:2222",
"subject:TEST\\:0000001",
"object:TEST\\:0000002",
- 'subject:"TEST:0000005" OR object:"TEST:0000005"',
+ 'subject:"TEST:0000005" OR object:"TEST:0000005" OR disease_context_qualifier:"TEST:0000005"',
],
"facet_mincount": 1,
"query_fields": "subject subject_label^2 subject_label_t subject_closure subject_closure_label subject_closure_label_t predicate predicate_t object object_label^2 object_label_t object_closure object_closure_label object_closure_label_t publications has_evidence primary_knowledge_source aggregator_knowledge_source provided_by ",
diff --git a/backend/tests/fixtures/association_query_indirect.py b/backend/tests/fixtures/association_query_indirect.py
index 5e8503e9b..7db85bd21 100644
--- a/backend/tests/fixtures/association_query_indirect.py
+++ b/backend/tests/fixtures/association_query_indirect.py
@@ -24,7 +24,7 @@ def association_query_indirect():
"object_taxon:NCBITaxon\\:2222",
'subject:"TEST:0000001" OR subject_closure:"TEST:0000001"',
'object:"TEST:0000002" OR object_closure:"TEST:0000002"',
- 'subject:"TEST:0000005" OR subject_closure:"TEST:0000005" OR object:"TEST:0000005" OR object_closure:"TEST:0000005"',
+ 'subject:"TEST:0000005" OR subject_closure:"TEST:0000005" OR object:"TEST:0000005" OR object_closure:"TEST:0000005" OR disease_context_qualifier:"TEST:0000005" OR disease_context_qualifier_closure:"TEST:0000005"',
],
"facet_mincount": 1,
"query_fields": "subject subject_label^2 subject_label_t subject_closure subject_closure_label subject_closure_label_t predicate predicate_t object object_label^2 object_label_t object_closure object_closure_label object_closure_label_t publications has_evidence primary_knowledge_source aggregator_knowledge_source provided_by ",
diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py
index 8e07d576e..ece237830 100644
--- a/backend/tests/fixtures/association_response.py
+++ b/backend/tests/fixtures/association_response.py
@@ -5,7 +5,7 @@
def association_response():
return {
"responseHeader": {
- "QTime": 0,
+ "QTime": 1,
"params": {
"mm": "100%",
"q": "*:*",
@@ -13,2359 +13,3765 @@ def association_response():
"facet_min_count": "1",
"start": "0",
"q.op": "AND",
- "fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
+ "fq": 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121"',
"facet.mincount": "1",
"rows": "20",
"facet": "true",
},
},
"response": {
- "num_found": 5079,
+ "num_found": 11435,
"start": 0,
"docs": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0100531",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b6907-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002465",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Poor speech",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "HP:0002465",
+ "UPHENO:0002433",
+ "HP:0002167",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UBERON:0000465",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0025792",
+ "UPHENO:0002530",
+ "HP:0034434",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
+ "UPHENO:0002385",
+ "BFO:0000040",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "HP:4000072",
+ "UPHENO:0001003",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "Poor speech",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular anatomical structure",
+ "Abnormal speech pattern",
+ "multicellular anatomical structure phenotype",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "phenotype",
+ "Abnormal language feature",
+ "phenotypic effect",
+ "Abnormal communication",
+ "All",
+ "Abnormal cognitive process",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
- "BFO:0000016",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0100531",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "disease",
- "familial cardiomyopathy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002465",
+ },
+ {
+ "id": "uuid:b35b6909-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002435",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Meningocele",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0034238",
+ "UPHENO:0081581",
+ "UPHENO:0051150",
+ "HP:0002435",
+ "UPHENO:0076702",
+ "UBERON:0005423",
+ "UPHENO:0076791",
+ "HP:0000707",
+ "UPHENO:0076692",
+ "UBERON:0006598",
+ "UBERON:0001017",
+ "UBERON:0002360",
+ "UBERON:0010371",
+ "UBERON:0016880",
+ "UBERON:0016879",
+ "UBERON:0000483",
+ "UBERON:0005291",
+ "UBERON:0003914",
+ "GO:0009790",
+ "GO:0048729",
+ "GO:0048598",
+ "GO:0035239",
+ "GO:0035148",
+ "GO:0009888",
+ "GO:0048731",
+ "GO:0035295",
+ "GO:0009792",
+ "GO:0002009",
+ "GO:0016331",
+ "GO:0060562",
+ "GO:0072175",
+ "GO:0060429",
+ "GO:0060606",
+ "GO:0007399",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002525",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "GO:0001841",
+ "GO:0014020",
+ "HP:0045005",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UBERON:0001016",
+ "UBERON:0001049",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "GO:0009653",
+ "GO:0048646",
+ "GO:0048856",
+ "UPHENO:0051077",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0034925",
+ "GO:0032501",
+ "GO:0032502",
+ "UBERON:0000094",
+ "UBERON:0000025",
+ "UBERON:0000922",
+ "UPHENO:0001002",
+ "UPHENO:0049623",
+ "UPHENO:0050108",
+ "UBERON:0002050",
+ "GO:0008150",
+ "UBERON:0011216",
+ "GO:0007275",
+ "UPHENO:0002949",
+ "HP:0410043",
+ "UPHENO:0004523",
+ "HP:0010651",
+ "BFO:0000002",
+ "BFO:0000003",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0021915",
+ "UPHENO:0001001",
+ "UPHENO:0002548",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "UBERON:0000479",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0000468",
+ "GO:0043009",
+ "GO:0001838",
+ "GO:0001843",
+ "UPHENO:0051003",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UBERON:0010743",
+ ],
+ "object_closure_label": [
+ "material anatomical entity phenotype",
+ "Abnormal neural tube morphology",
+ "nervous system phenotype",
+ "Meningocele",
+ "nervous system morphology phenotype",
+ "biological_process",
+ "tissue",
+ "organ",
+ "anatomical conduit",
+ "multicellular organism",
+ "multicellular organism development",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "tube closure phenotype",
+ "biological_process phenotype",
+ "independent continuant",
+ "embryonic structure",
+ "material entity",
+ "membrane organ",
+ "tube",
+ "embryo",
+ "Closed neural tube defect",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity",
+ "developing anatomical structure",
+ "presumptive structure",
+ "chordate embryonic development",
+ "embryonic epithelial tube formation",
+ "neural tube closure",
+ "neural tube closure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "meninx",
+ "ecto-epithelium",
+ "future nervous system",
+ "future central nervous system",
+ "epithelium",
+ "embryonic tissue",
+ "tube formation phenotype",
+ "anatomical structure",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "epithelial tube",
+ "neural tube formation",
+ "primary neural tube formation",
+ "phenotypic effect",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "developmental process phenotype",
+ "multicellular organism morphology phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "neural tube",
+ "central nervous system morphology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "embryo development ending in birth or egg hatching",
+ "morphogenesis of an epithelium",
+ "morphogenesis of embryonic epithelium",
+ "epithelial tube morphogenesis",
+ "epithelial tube formation",
+ "epithelium development",
+ "tube closure",
+ "nervous system development",
+ "phenotype",
+ "Abnormal meningeal morphology",
+ "continuant",
+ "occurrent",
+ "process",
+ "meningeal cluster",
+ "multicellular organismal process",
+ "developmental process",
+ "anatomical structure morphogenesis",
+ "anatomical structure formation involved in morphogenesis",
+ "anatomical structure development",
+ "embryo development",
+ "tissue morphogenesis",
+ "embryonic morphogenesis",
+ "tube morphogenesis",
+ "tube formation",
+ "tissue development",
+ "system development",
+ "tube development",
+ "All",
+ "Neural tube defect",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "nervous system",
+ "neural tube development",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
"myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "continuant",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002435",
},
{
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0700075",
- "object": "MONDO:0019950",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
+ "id": "uuid:b35b690c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0010864",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability, severe",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
+ "BFO:0000002",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0000061",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "BFO:0000040",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0001003",
+ "HP:0010864",
+ "BFO:0000015",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "material anatomical entity",
+ "Intellectual disability, severe",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "Abnormal nervous system physiology",
+ "occurrent",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
"MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0018276",
"MONDO:0020120",
- "MONDO:0700069",
"MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
"MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
+ "disorder of glycosylation",
"hereditary neuromuscular disease",
"hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0010864",
+ },
+ {
+ "id": "uuid:b35b6915-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0003712",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Skeletal muscle hypertrophy",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0081581",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0001001",
+ "HP:0003712",
+ "UPHENO:0001002",
+ "HP:0030236",
+ "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "HP:0011805",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
+ ],
+ "object_closure_label": [
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "phenotype",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system phenotype",
+ "Abnormality of muscle size",
+ "skeletal musculature",
+ "muscle structure",
+ "organ system subdivision phenotype",
+ "entity",
+ "Abnormal skeletal muscle morphology",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "Skeletal muscle hypertrophy",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "musculature of body",
+ "All",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0003712",
},
{
- "id": "urn:uuid:2f87c310-fec5-4095-8401-bf84c89fc569",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0700075",
- "object": "MONDO:0700069",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
- "MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
+ "id": "uuid:b35b6918-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001276",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypertonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "HP:0001276",
+ "UPHENO:0002308",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0015286",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "Hypertonia",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "material anatomical entity",
+ "anatomical structure",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "organ phenotype",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "musculature of body",
+ "phenotypic effect",
+ "continuant",
+ "independent continuant",
+ "All",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
"myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "myopathy caused by variation in POMGNT2",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001276",
+ },
+ {
+ "id": "uuid:b35b691a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001270",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Motor delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "MONDO:0045010",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0700069",
- "OGMS:0000031",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "BFO:0000017",
- "BFO:0000016",
- "MONDO:0017741",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0015286",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0024322",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "realizable entity",
- "entity",
- "inborn errors of metabolism",
- "continuant",
- "musculoskeletal system disorder",
- "disposition",
- "hereditary skeletal muscle disorder",
- "disease",
"disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "metabolic disease",
- "glycoprotein metabolism disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
},
{
- "id": "urn:uuid:385545b5-6092-4884-9e9c-eaa9e271f3aa",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0800209",
- "object": "MONDO:0007614",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "MONDO:0800209",
+ "id": "uuid:b35b691c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0001270",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Motor delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "fibrosis of extraocular muscles, congenital, 3b",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "object_label": "congenital fibrosis of extraocular muscles",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ },
+ {
+ "id": "uuid:b35b691e-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040281",
+ "subject": "HGNC:22932",
+ "object": "HP:0001288",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Gait disturbance",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UPHENO:0049708",
+ "UPHENO:0079833",
+ "UPHENO:0049703",
+ "HP:0000707",
+ "UPHENO:0002525",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "HP:0000001",
+ "UPHENO:0050613",
+ "UPHENO:0002530",
+ "UPHENO:0050606",
+ "UPHENO:0002536",
+ "UPHENO:0079826",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UBERON:0001016",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0049699",
+ "UBERON:0000061",
+ "UPHENO:0049622",
+ "HP:0100022",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0032501",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "HP:0001288",
+ "GO:0008150",
+ "UBERON:0000468",
+ "GO:0050879",
+ "GO:0007610",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "BFO:0000003",
+ "NBO:0000403",
+ "NBO:0000001",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "UPHENO:0049587",
"BFO:0000001",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "multicellular organismal movement",
+ "behavior",
+ "system process",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "phenotype",
+ "biological_process phenotype",
+ "anatomical system physiology phenotype",
+ "behavior phenotype",
+ "anatomical system phenotype",
+ "Gait disturbance",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "nervous system process phenotype",
+ "voluntary movement behavior phenotype",
+ "entity",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "multicellular organismal movement phenotype",
+ "taxon specific phenotype",
+ "material anatomical entity",
+ "continuant",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
+ "anatomical entity phenotype",
+ "behavior process phenotype",
+ "anatomical structure phenotype",
+ "occurrent",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "All",
+ "musculoskeletal movement phenotype",
+ "system process phenotype",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "multicellular anatomical structure",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
"myopathy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001288",
},
{
- "id": "urn:uuid:2b6bf9c8-5099-414e-9bfc-eef68b3929fd",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0800318",
- "object": "MONDO:0010680",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "BFO:0000016",
+ "id": "uuid:b35b6924-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001250",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Seizure",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0005267",
- "BFO:0000020",
- "MONDO:0800318",
- "MONDO:0700223",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "Emery-Dreifuss muscular dystrophy 6, X-linked",
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "heart disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "disposition",
+ "multicellular anatomical structure",
+ "nervous system",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
- "BFO:0000002",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
"myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "continuant",
- "familial dilated cardiomyopathy",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0800318||biolink:subclass_of|MONDO:0010680",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
},
{
- "id": "urn:uuid:2d992073-c362-4676-a4fb-5c725f8175d1",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0957270",
- "object": "MONDO:0015152",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b6925-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001250",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Seizure",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000002",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
"MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
"MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
"MONDO:0015152",
- "MONDO:0957270",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
"autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 28",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
+ "congenital disorder of glycosylation",
"limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ },
+ {
+ "id": "uuid:b35b6929-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001252",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypotonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0015152",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
},
{
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958077",
- "object": "MONDO:0019950",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
+ "id": "uuid:b35b692a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001252",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Hypotonia",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
"skeletal muscle disorder",
"neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
+ "glycoprotein metabolism disease",
"congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
"human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
},
{
- "id": "urn:uuid:cdf868e1-085e-4f2a-a113-759256c509d8",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958176",
- "object": "MONDO:0008116",
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
+ "id": "uuid:b35b692f-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040281",
+ "subject": "HGNC:22932",
+ "object": "HP:0001249",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0008116",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0958176",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "oculopharyngeal muscular dystrophy 1",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ },
+ {
+ "id": "uuid:b35b6930-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001249",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Intellectual disability",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
},
{
- "id": "urn:uuid:034d4f2c-a3f6-42f6-afa6-dddaac5b15a7",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958195",
- "object": "MONDO:0008116",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "id": "uuid:b35b6933-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001263",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Global developmental delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
+ "object_closure": [
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0958195",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "BFO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
+ "evidence_count": 0,
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ },
+ {
+ "id": "uuid:b35b6935-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040282",
+ "subject": "HGNC:22932",
+ "object": "HP:0001263",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Global developmental delay",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
],
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
"entity",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958195||biolink:subclass_of|MONDO:0008116",
- },
- {
- "id": "urn:uuid:0768c5ef-9fcd-4678-a304-dcca1ad4f13b",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958233",
- "object": "MONDO:0008029",
- "subject_label": "Bethlem myopathy 1B",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0958233",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "Bethlem myopathy 1B",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "congenital muscular dystrophy",
- ],
- "object_label": "Bethlem myopathy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958233||biolink:subclass_of|MONDO:0008029",
- },
- {
- "id": "urn:uuid:d1747e5a-0b37-4bcf-8ec8-cbc9d5fca0bb",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958234",
- "object": "MONDO:0008029",
- "subject_label": "Bethlem myopathy 1C",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958234",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
- "MONDO:0003847",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
"MONDO:0000001",
- ],
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "Bethlem myopathy 1C",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "congenital muscular dystrophy",
- ],
- "object_label": "Bethlem myopathy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958234||biolink:subclass_of|MONDO:0008029",
- },
- {
- "id": "urn:uuid:5222c632-e6ff-48d6-aa6e-bee3197db19b",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958235",
- "object": "MONDO:0000355",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
"MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
"MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
"MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "Ullrich congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "BFO:0000002",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
"MONDO:0020120",
"MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958235||biolink:subclass_of|MONDO:0000355",
- },
- {
- "id": "urn:uuid:89e5d336-99af-4738-beba-65d47ba9bc21",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958236",
- "object": "MONDO:0000355",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958236",
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Ullrich congenital muscular dystrophy 1C",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "object_label": "Ullrich congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
"hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958236||biolink:subclass_of|MONDO:0000355",
- },
- {
- "id": "urn:uuid:87e4a926-68eb-4211-8062-81a54a0514e4",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0958353",
- "object": "MONDO:0958077",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0958353",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "intermediate collagen VI-related muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "object_label": "collagen 6-related congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- },
- {
- "id": "urn:uuid:f170926f-95a4-42ad-991e-c6ef1fcb6f75",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:0971171",
- "object": "MONDO:0015152",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000002",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "BFO:0000017",
- "MONDO:0971171",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "autosomal recessive limb-girdle muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- ],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity",
- ],
- "evidence_count": 0,
- "grouping_key": "MONDO:0971171||biolink:subclass_of|MONDO:0015152",
- },
- {
- "id": "urn:uuid:0cf00103-088b-4832-b0db-27a8c44d47e5",
- "predicate": "biolink:subclass_of",
- "category": "biolink:Association",
- "agent_type": "not_provided",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
- "knowledge_level": "not_provided",
- "primary_knowledge_source": "infores:mondo",
- "provided_by": "phenio_edges",
- "subject": "MONDO:1040033",
- "object": "MONDO:0019950",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "subject_category": "biolink:Disease",
- "subject_namespace": "MONDO",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:1040033",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000020",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "congenital muscular dystrophy without intellectual disability",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
- ],
- "object_label": "congenital muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
- "object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
- ],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
"musculoskeletal system disorder",
- "entity",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MONDO:1040033||biolink:subclass_of|MONDO:0019950",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
},
{
- "id": "191417f1-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11727",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:3817493",
- "object": "MONDO:0001347",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b6938-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018939",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007360",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UBERON:0000465",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0003936",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0010000",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0001001",
+ "UPHENO:0080079",
+ "UPHENO:0003952",
+ "UPHENO:0076720",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002037",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0002977",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "UBERON:0001062",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "HP:0007360",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "NCBITaxon:1",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "BFO:0000004",
+ "UPHENO:0002548",
+ "HP:0001317",
+ "UPHENO:0075948",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UPHENO:0003459",
+ "UPHENO:0002765",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0080089",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ "UBERON:0001017",
+ ],
+ "object_closure_label": [
+ "material anatomical entity phenotype",
+ "cerebellum phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "Abnormal cerebellum morphology",
+ "metencephalon phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "independent continuant",
+ "material entity",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "organ subunit phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "organ part phenotype",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "cerebellum",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "material anatomical entity",
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "continuant",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "central nervous system",
+ "All",
+ "Abnormality of the nervous system",
+ "entity",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0019303",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:3817493||biolink:model_of|MONDO:0001347",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007360",
},
{
- "id": "19141853-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11723",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:5529018",
- "object": "MONDO:0010679",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "Duchenne muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b6939-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007361",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Abnormal pons morphology",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "UBERON:0000061",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "UPHENO:0076808",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0003952",
+ "UPHENO:0076805",
+ "UPHENO:0002530",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002298",
+ "UBERON:0000988",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0002363",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0081582",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "UPHENO:0002949",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "UPHENO:0004523",
+ "UPHENO:0003063",
+ "NCBITaxon:1",
+ "UBERON:0001062",
+ "UPHENO:0075948",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "UBERON:0000062",
+ "UPHENO:0003459",
+ "HP:0007361",
+ "UPHENO:0002765",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ ],
+ "object_closure_label": [
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "hindbrain phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "pons morphology phenotype",
+ "metencephalon phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "material entity",
+ "Abnormal brainstem morphology",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "Eukaryota",
+ "anatomical structure",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "Abnormal pons morphology",
+ "organ subunit phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "organ part phenotype",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "brainstem",
+ "pons",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "anatomical entity",
+ "continuant",
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "pons phenotype",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "All",
+ "brainstem morphology phenotype",
+ "Abnormality of the nervous system",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:5529018||biolink:model_of|MONDO:0010679",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007361",
},
{
- "id": "1914187f-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11723",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:6438177",
- "object": "MONDO:0010679",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "Duchenne muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b693a-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0014142",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0007340",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Lower limb muscle weakness",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0080575",
+ "HP:0009127",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0010709",
+ "UBERON:0014892",
+ "HP:0000001",
+ "HP:0003690",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000026",
+ "UBERON:0000383",
+ "UPHENO:0002861",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "UPHENO:0002830",
+ "UBERON:0010707",
+ "UBERON:0004480",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0010890",
+ "UPHENO:0002320",
+ "UPHENO:0002526",
+ "UPHENO:0002308",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002945",
+ "UPHENO:0003022",
+ "HP:0040064",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UBERON:0004708",
+ "UPHENO:0002847",
+ "HP:0011805",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "UBERON:0007271",
+ "UBERON:0014792",
+ ],
+ "object_closure_label": [
+ "Lower limb muscle weakness",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "limb",
+ "appendage phenotype",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "anatomical structure",
+ "skeletal muscle organ, vertebrate",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "muscle structure physiology phenotype",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical structure physiology phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "decreased anatomical entity strength",
+ "organ system subdivision phenotype",
+ "entity",
+ "pelvic complex",
+ "musculature of limb",
+ "decreased pelvic complex muscle strength",
+ "Abnormal skeletal muscle morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limbs",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "organism subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
+ "limb phenotype",
+ "anatomical system",
+ "muscle organ",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "appendage girdle complex",
+ "appendage",
+ "musculature of body",
+ "paired limb/fin",
+ "phenotype",
+ "musculature of pelvic complex phenotype",
+ "phenotypic effect",
+ "system",
+ "All",
+ "organ phenotype",
+ "Limb muscle weakness",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multicellular organism",
+ ],
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "entity",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007340",
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "predicate": "biolink:model_of",
- "original_object": "DOID:11727",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "agent_type": "manual_agent",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
- "knowledge_level": "knowledge_assertion",
- "primary_knowledge_source": "infores:mgi",
- "provided_by": "alliance_disease_edges",
- "subject": "MGI:5524138",
- "object": "MONDO:0001347",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "subject_category": "biolink:Genotype",
- "subject_namespace": "MGI",
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_category": "biolink:Disease",
- "object_namespace": "MONDO",
+ "id": "uuid:b35b693c-8b41-11ef-b621-6045bdbae67e",
+ "original_subject": "NCBIGene:29925",
+ "predicate": "biolink:has_phenotype",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "agent_type": "automated_agent",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
+ "knowledge_level": "logical_entailment",
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
+ "disease_context_qualifier": "MONDO:0018278",
+ "frequency_qualifier": "HP:0040283",
+ "subject": "HGNC:22932",
+ "object": "HP:0002518",
+ "subject_label": "GMPPB",
+ "subject_category": "biolink:Gene",
+ "subject_namespace": "HGNC",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "object_label": "Abnormal periventricular white matter morphology",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_namespace": "HP",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "HP:0010993",
+ "UPHENO:0002874",
+ "UPHENO:0002834",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "UPHENO:0087531",
+ "UPHENO:0076791",
+ "UPHENO:0087518",
+ "UPHENO:0081562",
+ "UPHENO:0074038",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UPHENO:0074051",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000454",
+ "UBERON:0000955",
+ "UBERON:0002316",
+ "UBERON:0003544",
+ "HP:0000001",
+ "HP:0002060",
+ "UPHENO:0073898",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0073978",
+ "UPHENO:0002570",
+ "UPHENO:0002525",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UBERON:0002437",
+ "UPHENO:0074028",
+ "UPHENO:0002538",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "NCBITaxon:33154",
+ "UBERON:0001869",
+ "UBERON:0011215",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0001893",
+ "UBERON:0001890",
+ "UBERON:0019261",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "UPHENO:0002736",
+ "HP:0000118",
+ "HP:0002011",
+ "HP:0002500",
+ "UPHENO:0089366",
+ "UPHENO:0002963",
+ "UPHENO:0003030",
+ "UPHENO:0002841",
+ "UBERON:0001062",
+ "UBERON:0015212",
+ "UBERON:0005162",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "HP:0002518",
+ "UPHENO:0073911",
+ "HP:0100547",
+ "UPHENO:0074054",
+ "UPHENO:0073937",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UPHENO:0074036",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UPHENO:0002873",
+ "NCBITaxon:1",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0003001",
+ "UPHENO:0087902",
+ "UPHENO:0076799",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0002352",
+ "UPHENO:0073886",
+ "UPHENO:0074037",
+ "UPHENO:0002731",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "UPHENO:0081435",
+ "HP:0012639",
+ "UPHENO:0004621",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
+ "BFO:0000040",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0011299",
+ ],
+ "object_closure_label": [
+ "cerebral hemisphere morphology phenotype",
+ "anatomical entity degeneration in central nervous system",
+ "material anatomical entity phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "multi cell part structure degeneration",
+ "central nervous system cell part cluster phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "Abnormal cerebral white matter morphology",
+ "multicellular organism phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "Abnormal nervous system morphology",
+ "forebrain phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "white matter of telencephalon",
+ "cerebral hemisphere white matter phenotype",
+ "white matter of telencephalon phenotype",
+ "independent continuant",
+ "brain morphology phenotype",
+ "telencephalon morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "multicellular anatomical structure phenotype",
+ "brain white matter phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "regional part of nervous system phenotype",
+ "cerebral hemisphere white matter degeneration",
+ "lateral structure phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "entity",
+ "central nervous system",
+ "regional part of brain",
+ "cerebral subcortex",
+ "brain",
+ "white matter",
+ "white matter of forebrain",
+ "telencephalon phenotype",
+ "brain white matter morphology phenotype",
+ "material anatomical entity degeneration",
+ "anatomical entity degeneration",
+ "organ part phenotype",
+ "organ system subdivision",
+ "brain white matter",
+ "cerebral hemisphere white matter",
+ "phenotypic effect",
+ "white matter degeneration",
+ "Abnormal periventricular white matter morphology",
+ "ectoderm-derived structure degeneration",
+ "Abnormal forebrain morphology",
+ "brain white matter degeneration",
+ "multicellular organism morphology phenotype",
+ "white matter of forebrain phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "telencephalon",
+ "forebrain",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "forebrain morphology phenotype",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral subcortex morphology",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "continuant",
+ "Opisthokonta",
+ "cerebral hemisphere",
+ "central nervous system cell part cluster",
+ "phenotype",
+ "Leukoencephalopathy",
+ "anatomical entity phenotype",
+ "anatomical structure degeneration",
+ "white matter phenotype",
+ "white matter of telencephalon degeneration",
+ "material entity",
+ "multi-tissue structure",
+ "organ part",
+ "All",
+ "Abnormal cerebral morphology",
+ "central nervous system cell part cluster degeneration",
+ "cerebral hemisphere white matter morphology phenotype",
+ "white matter of forebrain degeneration",
+ "Abnormality of the nervous system",
+ "multi cell part structure phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multi cell part structure",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
+ ],
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0019303",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
+ "frequency_qualifier_namespace": "HP",
"evidence_count": 0,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002518",
},
],
},
diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py
index d4ea1676d..594c559f8 100644
--- a/backend/tests/fixtures/association_table.py
+++ b/backend/tests/fixtures/association_table.py
@@ -6,7 +6,7 @@ def association_table():
return {
"limit": 5,
"offset": 0,
- "total": 4082,
+ "total": 4077,
"items": [
{
"id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e",
@@ -16,409 +16,388 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"subject_taxon": None,
"subject_taxon_label": None,
"predicate": "biolink:has_phenotype",
+ "original_predicate": None,
"object": "HP:0006094",
"original_object": None,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "HP:0011729",
+ "UPHENO:0005214",
+ "UPHENO:0084763",
+ "UPHENO:0081581",
+ "UPHENO:0076727",
+ "UPHENO:0081440",
"UPHENO:0086635",
- "UPHENO:0002267",
- "UPHENO:0002926",
+ "HP:0040068",
+ "UBERON:0000468",
+ "UBERON:0015061",
+ "UBERON:0011582",
+ "UBERON:0004375",
+ "UBERON:0000075",
+ "UBERON:0001015",
+ "UBERON:0004905",
+ "UBERON:0010912",
+ "UBERON:0001434",
+ "UBERON:0012141",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0002632",
+ "UPHENO:0003432",
+ "UPHENO:0002733",
+ "UPHENO:0076692",
+ "UPHENO:0084761",
+ "HP:0011297",
+ "UPHENO:0002525",
"UPHENO:0086700",
"UPHENO:0079876",
"HP:0011843",
- "UBERON:0004120",
"UBERON:0010708",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0002470",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:0003839",
- "UPHENO:0003066",
- "UPHENO:0077419",
- "UPHENO:0002643",
- "UPHENO:0005092",
- "UPHENO:0002554",
- "UBERON:0010758",
- "UBERON:0004765",
+ "UBERON:0001474",
"HP:0000001",
- "UPHENO:0003015",
+ "UPHENO:0003415",
+ "UPHENO:0086633",
+ "UPHENO:0077421",
"UPHENO:0076723",
"UPHENO:0002905",
"HP:0034430",
"HP:0000924",
+ "UPHENO:0002530",
+ "UPHENO:0003514",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UBERON:0000467",
+ "UBERON:0000153",
+ "UBERON:0000026",
+ "UBERON:0005881",
+ "UBERON:0000383",
+ "UBERON:0002398",
+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UBERON:0012354",
+ "UPHENO:0002269",
+ "UPHENO:0003227",
+ "HP:0001167",
+ "UPHENO:0002861",
+ "HP:0001382",
+ "HP:0002813",
+ "HP:0002817",
+ "UPHENO:0002536",
+ "UPHENO:0076943",
+ "UPHENO:0002830",
+ "UPHENO:0003799",
+ "UPHENO:0076944",
+ "UBERON:0010707",
+ "UBERON:0002204",
+ "UBERON:0010758",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0003657",
+ "UPHENO:0082875",
+ "UPHENO:0076703",
+ "UPHENO:0002964",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0004710",
+ "UBERON:0002389",
+ "UBERON:0002101",
+ "UBERON:0001460",
+ "UBERON:0002529",
+ "UPHENO:0076740",
+ "UPHENO:0002593",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0003812",
"UPHENO:0002816",
"UPHENO:0004476",
- "UPHENO:0002536",
- "UPHENO:0076692",
- "UPHENO:0084761",
+ "HP:0006256",
+ "UPHENO:0002963",
+ "UPHENO:0002586",
+ "UPHENO:0002385",
+ "UPHENO:0002880",
+ "UBERON:0001062",
+ "UBERON:0034925",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UBERON:0004765",
+ "UPHENO:0001001",
+ "UPHENO:0002983",
+ "UPHENO:0002650",
+ "UPHENO:0002949",
+ "UPHENO:0084448",
+ "HP:0011844",
+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0034921",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
+ "UBERON:0010538",
+ "UPHENO:0002526",
+ "UPHENO:0002559",
+ "UPHENO:0002648",
"HP:0430046",
"UPHENO:0002600",
"BFO:0000002",
- "UBERON:0002204",
- "UBERON:0011582",
- "UBERON:0015061",
- "UBERON:0004375",
- "UBERON:0002544",
- "UBERON:0004708",
- "UBERON:5002389",
- "UPHENO:0001001",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0002746",
"UPHENO:0001002",
"HP:0006094",
- "UPHENO:0002650",
- "UPHENO:0003799",
- "UBERON:0005451",
- "UBERON:0012140",
- "UBERON:0012354",
- "UBERON:0002398",
- "HP:0011729",
- "BFO:0000002",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
+ "UPHENO:0003005",
"UPHENO:0002870",
"UPHENO:0002896",
- "UPHENO:0002648",
- "UBERON:0001062",
- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
+ "HP:0040064",
+ "BFO:0000001",
+ "UBERON:0004120",
+ "UBERON:0000062",
"UBERON:0002428",
- "UPHENO:0002526",
+ "UBERON:0004381",
+ "UBERON:0002091",
+ "UBERON:0004708",
+ "UPHENO:0002944",
+ "UPHENO:0003095",
"UPHENO:0087006",
"HP:0001155",
"HP:0011842",
- "UPHENO:0003432",
- "UPHENO:0002733",
- "UPHENO:0076944",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "UBERON:0034921",
- "UBERON:0011249",
- "UBERON:0010712",
- "UBERON:0002091",
- "UBERON:0000982",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "UPHENO:0004909",
- "UPHENO:0002632",
+ "UPHENO:0003066",
+ "UPHENO:0077419",
+ "UPHENO:0002643",
+ "UPHENO:0001003",
+ "UPHENO:0003049",
"UPHENO:0002568",
- "BFO:0000001",
- "HP:0002817",
- "UPHENO:0003514",
- "BFO:0000001",
+ "UPHENO:0003065",
"UBERON:0004770",
"UBERON:0004288",
- "UBERON:0000468",
- "UBERON:0000153",
- "UBERON:0000026",
"UBERON:5002544",
- "UPHENO:0003095",
- "HP:0005922",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "BFO:0000004",
- "UBERON:0006058",
- "UBERON:0001474",
"UBERON:0010363",
- "UBERON:0010538",
- "UPHENO:0076703",
- "HP:0001167",
- "UPHENO:0002861",
- "UPHENO:0002949",
- "UPHENO:0081440",
- "UBERON:0034925",
- "UPHENO:0002593",
- "UPHENO:0003005",
- "HP:0040068",
- "UPHENO:0002385",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0000465",
- "UBERON:0015212",
- "UBERON:0012141",
- "UPHENO:0077421",
- "UPHENO:0005214",
- "UPHENO:0084763",
- "BFO:0000020",
- "UPHENO:0076943",
- "UPHENO:0084448",
- "UPHENO:0002976",
- "UBERON:0002389",
- "UBERON:0002101",
- "UPHENO:0002944",
- "UPHENO:0002708",
- "HP:0006256",
- "UPHENO:0002963",
- "HP:0040064",
- "UBERON:0000075",
- "UBERON:0000383",
- "UBERON:0001015",
- "UBERON:0001434",
- "UPHENO:0003227",
- "HP:0001382",
- "UPHENO:0002559",
- "UPHENO:0081581",
- "HP:0033127",
- "UPHENO:0003065",
- "BFO:0000040",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000475",
- "UBERON:0000062",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0002513",
- "UBERON:0001460",
- "UBERON:0002529",
- "UBERON:0003657",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "HP:0011844",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "UPHENO:0002731",
- "HP:0000118",
- "UPHENO:0002530",
- "HP:0011297",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UBERON:0010912",
+ "UBERON:0011249",
+ "UBERON:0000982",
+ "UBERON:0010712",
+ "UBERON:0003839",
+ "UBERON:0002102",
+ "UBERON:0002470",
+ "UBERON:0008785",
+ "UBERON:0012139",
],
"object_label": "Finger joint hypermobility",
"object_closure_label": [
- "All",
- "articulation phenotype",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal joint physiology",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "limb bone phenotype",
- "musculature of body phenotype",
- "autopodial extension phenotype",
- "anatomical structure",
- "organism subdivision",
- "organ",
- "digit",
- "paired limb/fin",
- "manual digit plus metapodial segment",
- "skeleton of limb phenotype",
- "Joint hypermobility",
- "skeletal element phenotype",
- "Abnormality of hand joint mobility",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
- "multi organ part structure",
- "appendicular skeletal system",
- "limb skeleton subdivision",
- "appendicular skeleton",
- "skeletal joint",
- "phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
+ "anatomical entity physiology phenotype",
+ "endochondral bone phenotype",
"musculature phenotype",
"manual digit phenotype",
- "Abnormality of limbs",
- "material entity",
- "multicellular anatomical structure",
- "anatomical system",
- "subdivision of organism along appendicular axis",
- "skeletal element",
+ "material anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Abnormality of limb bone",
+ "organ",
"pectoral appendage",
- "bone of appendage girdle complex",
- "endochondral bone",
+ "manual digit",
+ "limb",
"arm",
"limb segment",
- "limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
- "paired limb/fin segment phenotype",
+ "limb segment phenotype",
+ "skeleton of limb phenotype",
+ "Abnormal finger morphology",
+ "appendage phenotype",
+ "Joint hypermobility",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "appendicular skeleton phenotype",
+ "endochondral element phenotype",
+ "multi-limb segment region phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
"material anatomical entity",
- "multicellular organism",
+ "anatomical structure",
+ "forelimb joint",
"forelimb",
"autopod region",
"upper limb segment",
"segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
- "anatomical collection",
- "segment of manus",
- "digitopodium region",
- "acropodium region",
- "manus",
- "Abnormal hand morphology",
- "continuant",
- "multicellular organism morphology phenotype",
- "Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
- "taxon specific phenotype",
- "digit morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
- "multi-limb segment region",
- "bone element",
- "endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
- "upper limb segment phenotype",
- "skeletal joint mobility phenotype",
- "anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
+ "phenotype",
+ "forelimb phenotype",
+ "forelimb morphology phenotype",
"increased skeletal joint mobility",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "endochondral element phenotype",
- "quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
- "limb endochondral element",
- "bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
- "material anatomical entity physiology phenotype",
- "organism subdivision phenotype",
+ "Abnormality of the musculoskeletal system",
+ "limb bone morphology phenotype",
+ "paired limb/fin segment phenotype",
"independent continuant",
- "anterior region of body",
- "appendage",
- "digit plus metapodial segment",
+ "material entity",
+ "skeletal element",
+ "endochondral element",
+ "appendicular skeletal system",
+ "skeletal joint",
+ "limb skeleton subdivision",
+ "manual digitopodium region",
+ "anatomical system physiology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
"Abnormal limb bone morphology",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
"skeletal joint phenotype",
"increased anatomical entity mobility",
"multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
- "manual digitopodium region",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "limb bone",
+ "skeleton of limb",
+ "appendicular skeleton morphology phenotype",
"bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
+ "Abnormality of hand joint mobility",
+ "anatomical system phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ system subdivision phenotype",
+ "pectoral complex",
+ "bone of appendage girdle complex",
+ "endochondral bone",
+ "limb joint",
+ "subdivision of skeletal system phenotype",
+ "autopod region morphology phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
"multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
- "organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
- "limb skeleton subdivision phenotype",
- "bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
+ "Abnormality of limbs",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "multi organ part structure",
+ "organ system subdivision",
+ "organism subdivision",
"subdivision of skeletal system",
- "musculature of body",
"musculature",
+ "articulation",
+ "subdivision of skeleton",
"skeletal system",
- "subdivision of skeletal system phenotype",
- "anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
+ "bone element",
+ "manus",
+ "segment of manus",
+ "digitopodium region",
+ "acropodium region",
"Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
+ "skeletal element phenotype",
"subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
+ "multicellular organism morphology phenotype",
+ "upper limb segment phenotype",
"limb phenotype",
+ "skeleton phenotype",
+ "skeletal joint mobility phenotype",
+ "anatomical system",
+ "limb endochondral element",
+ "paired limb/fin skeleton",
+ "bone of free limb or fin",
+ "subdivision of organism along appendicular axis",
+ "digit",
+ "manual digit plus metapodial segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "skeletal system morphology phenotype",
+ "articulation phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal digit morphology",
+ "appendage girdle complex",
+ "anterior region of body",
+ "appendage",
+ "autopodial extension",
+ "musculature of body",
+ "appendicular skeleton",
+ "paired limb/fin",
+ "subdivision of organism along appendicular axis phenotype",
+ "phenotypic effect",
+ "Finger joint hypermobility",
+ "skeletal system phenotype",
+ "pectoral appendage phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "anatomical structure phenotype",
+ "digit morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal musculoskeletal physiology",
+ "continuant",
+ "articular system",
+ "skeleton",
"system",
+ "digit plus metapodial segment",
+ "All",
+ "organ phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "Abnormality of the upper limb",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity phenotype",
+ "anatomical entity mobility phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "entity",
+ "lateral structure",
+ "multicellular organism",
+ "musculoskeletal system",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -483,6 +462,18 @@ def association_table():
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
"direction": "outgoing",
},
{
@@ -493,171 +484,152 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"subject_taxon": None,
"subject_taxon_label": None,
"predicate": "biolink:has_phenotype",
+ "original_predicate": None,
"object": "HP:0001252",
"original_object": None,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0003808",
- "UPHENO:0002267",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0000465",
- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
- "UBERON:0001062",
- "UBERON:0000061",
- "UPHENO:0002526",
- "UPHENO:0003432",
- "UPHENO:0002525",
"UBERON:0000468",
- "UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
- "UPHENO:0082555",
- "UPHENO:0001003",
- "BFO:0000001",
+ "UBERON:0001630",
+ "UBERON:0001015",
"UPHENO:0003047",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003432",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
"UPHENO:0082557",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
"UBERON:0000383",
- "UBERON:0001015",
"UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"HP:0033127",
+ "UPHENO:0002976",
"BFO:0000040",
- "UBERON:0000467",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
"UBERON:0000062",
- "UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001",
],
"object_label": "Hypotonia",
"object_closure_label": [
- "All",
- "muscle organ phenotype",
- "Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "organ system subdivision",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
"material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
- "Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
- "decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
"independent continuant",
- "phenotypic effect",
- "Abnormality of the musculature",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
"entity",
+ "anatomical structure",
"multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
"muscle organ physiology phenotype",
- "multicellular organism phenotype",
- "anatomical entity",
- "organ phenotype",
- "Abnormal muscle tone",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
"musculature of body",
- "musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -722,6 +694,18 @@ def association_table():
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
"direction": "outgoing",
},
{
@@ -732,233 +716,214 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"subject_taxon": None,
"subject_taxon_label": None,
"predicate": "biolink:has_phenotype",
+ "original_predicate": None,
"object": "HP:0003557",
"original_object": None,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0025354",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UPHENO:0002564",
"UPHENO:0086457",
- "UPHENO:0076710",
- "UBERON:0000467",
- "CL:0000000",
- "UBERON:0005090",
- "UBERON:0018254",
- "UBERON:0004120",
- "HP:0012084",
- "UPHENO:0002554",
- "BFO:0000040",
- "HP:0000001",
- "HP:0004303",
- "UPHENO:0079564",
- "HP:0025461",
- "UPHENO:0002816",
- "UPHENO:0076692",
- "UPHENO:0077801",
- "BFO:0000002",
- "CL:0002242",
- "CL:0000188",
+ "UBERON:0000468",
"CL:0000183",
+ "CL:0000255",
"CL:0000211",
"UBERON:0001630",
"UBERON:0002385",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UPHENO:0079562",
- "UPHENO:0079572",
- "BFO:0000002",
- "UPHENO:0003022",
- "UBERON:0000061",
- "CL:0008002",
+ "UBERON:0001015",
+ "UPHENO:0087047",
+ "UPHENO:0003047",
+ "UPHENO:0079564",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UPHENO:0077801",
+ "UBERON:0000465",
"CL:0000228",
"CL:0000187",
+ "CL:0000188",
"CL:0000393",
"UBERON:0014892",
"UBERON:0002036",
- "UPHENO:0002526",
- "HP:0011805",
- "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0004303",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0086462",
+ "UPHENO:0076710",
"UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002720",
+ "UPHENO:0002897",
+ "UPHENO:0079572",
+ "CL:0002242",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "CL:0002372",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "BFO:0000001",
"RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0088180",
+ "UPHENO:0002554",
"UBERON:0011216",
- "CL:0002372",
+ "CL:4052002",
"CL:0000737",
+ "CL:0008002",
"UBERON:0001134",
- "UPHENO:0002568",
- "BFO:0000001",
- "UBERON:0000479",
- "UPHENO:0002720",
- "UPHENO:0002897",
- "UPHENO:0002536",
- "UBERON:0000468",
- "UPHENO:0087047",
- "UPHENO:0003047",
- "UPHENO:0002564",
+ "BFO:0000002",
"BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002949",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"HP:0003557",
"UPHENO:0075195",
- "UPHENO:0086462",
- "UBERON:0000465",
- "UPHENO:0002976",
- "UPHENO:0086172",
- "UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "UPHENO:0081581",
- "UPHENO:0003081",
- "HP:0033127",
- "UPHENO:0001003",
- "BFO:0000001",
- "UBERON:0001062",
- "UBERON:0010000",
+ "UPHENO:0003022",
+ "CL:0000000",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0004120",
+ "UBERON:0000479",
"UBERON:0000062",
- "HP:0003011",
- "UPHENO:0088180",
- "PATO:0000001",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0086172",
+ "HP:0011805",
+ "HP:0012084",
+ "UPHENO:0079562",
+ "UPHENO:0002568",
+ "BFO:0000040",
],
"object_label": "Increased variability in muscle fiber diameter",
"object_closure_label": [
- "All",
- "Abnormal muscle fiber morphology",
- "morphology of cell of skeletal muscle phenotype",
- "Abnormal cell morphology",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
+ "skeletal muscle tissue morphology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "tissue",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
"myotube",
- "striated muscle cell",
- "skeletal muscle tissue",
- "phenotype",
- "phenotypic effect",
- "musculature phenotype",
+ "cell phenotype",
+ "Phenotypic abnormality",
+ "Increased variability in muscle fiber diameter",
+ "size of anatomical entity phenotype",
"morphology of muscle cell phenotype",
- "anatomical entity",
- "multicellular anatomical structure",
- "tissue",
- "muscle tissue phenotype",
- "skeletal muscle organ, vertebrate phenotype",
- "anatomical entity phenotype",
- "entity",
- "material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "size of cell phenotype",
- "skeletal muscle tissue morphology phenotype",
- "muscle structure phenotype",
- "continuant",
- "multicellular organism morphology phenotype",
- "skeletal musculature phenotype",
- "Abnormality of the musculoskeletal system",
- "taxon specific phenotype",
- "skeletal muscle fiber",
+ "mesoderm-derived structure phenotype",
+ "anatomical structure",
"multinucleate cell",
"muscle cell",
+ "cell of skeletal muscle",
"electrically responsive cell",
"skeletal muscle organ, vertebrate",
"striated muscle tissue",
- "specifically dependent continuant",
- "size of skeletal muscle fiber phenotype",
- "Abnormal skeletal muscle morphology",
- "anatomical structure phenotype",
- "cell of skeletal muscle morphology phenotype",
- "cell phenotype",
- "Increased variability in muscle fiber diameter",
- "size of anatomical entity phenotype",
- "quality",
- "material entity",
- "nucleate cell",
- "cell of skeletal muscle",
- "contractile cell",
- "electrically active cell",
- "muscle organ",
- "muscle tissue",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "tissue phenotype",
"size of cell of skeletal muscle phenotype",
- "muscle organ morphology phenotype",
"independent continuant",
- "Abnormal cellular phenotype",
- "Abnormality of the musculature",
"Abnormality of skeletal muscle fiber size",
- "tissue phenotype",
- "organ system subdivision phenotype",
+ "cell of skeletal muscle morphology phenotype",
+ "anatomical entity",
"entity",
+ "cell",
+ "skeletal musculature",
+ "muscle structure",
+ "mesoderm-derived structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
"morphology of myotube phenotype",
+ "anatomical system",
+ "contractile cell",
+ "eukaryotic cell",
+ "electrically active cell",
+ "muscle organ",
+ "muscle tissue",
+ "syncytial cell",
+ "striated muscle cell",
+ "skeletal muscle fiber",
+ "skeletal muscle tissue",
"organ phenotype",
+ "morphology of cell of skeletal muscle phenotype",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "material anatomical entity",
"musculature of body",
- "musculature",
- "mesoderm-derived structure phenotype",
- "anatomical system",
- "cell",
- "muscle structure",
- "skeletal musculature",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "size of skeletal muscle fiber phenotype",
+ "continuant",
+ "material entity",
"system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "muscle tissue phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ "nucleate cell",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -1021,6 +986,18 @@ def association_table():
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
"direction": "outgoing",
},
{
@@ -1031,143 +1008,124 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"subject_taxon": None,
"subject_taxon_label": None,
"predicate": "biolink:has_phenotype",
+ "original_predicate": None,
"object": "HP:0001270",
"original_object": None,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0002267",
- "UBERON:0001016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "BFO:0000002",
"HP:0000001",
- "UPHENO:0002536",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
"UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0001002",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
"HP:0012638",
- "UBERON:0010000",
- "BFO:0000002",
+ "UBERON:0001016",
+ "UPHENO:0082875",
"UBERON:0000061",
- "UPHENO:0002525",
- "UBERON:0000468",
- "HP:0000707",
- "UPHENO:0002568",
- "BFO:0000001",
- "HP:0012759",
- "UPHENO:0001003",
- "BFO:0000001",
- "BFO:0000004",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
"UPHENO:0002949",
- "BFO:0000002",
"UPHENO:0004523",
- "UPHENO:0002385",
- "BFO:0000020",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0002963",
- "HP:0001270",
- "BFO:0000040",
"UBERON:0001062",
- "UBERON:0000467",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "HP:0000118",
- "UPHENO:0002530",
- ],
- "object_label": "Motor delay",
- "object_closure_label": [
- "All",
- "anatomical structure",
- "Motor delay",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "phenotype",
- "phenotypic effect",
- "material entity",
- "anatomical entity",
- "anatomical system",
- "Neurodevelopmental abnormality",
- "taxon specific phenotype",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_label": "Motor delay",
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
"material anatomical entity phenotype",
- "continuant",
- "continuant",
- "entity",
"nervous system phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "nervous system physiology phenotype",
- "quality",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
"anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "entity",
- "multicellular anatomical structure",
- "specifically dependent continuant",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
"Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
"Abnormality of the nervous system",
- "nervous system",
+ "anatomical entity phenotype",
"Neurodevelopmental delay",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -1230,6 +1188,18 @@ def association_table():
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
"direction": "outgoing",
},
{
@@ -1240,177 +1210,158 @@ def association_table():
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100225",
+ "MONDO:0100545",
"MONDO:0024530",
"MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
+ "MONDO:0008029",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0100225",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0016106",
],
"subject_label": "Bethlem myopathy 1A",
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
"congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
"collagen 6-related myopathy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Bethlem myopathy",
+ "nervous system disorder",
"Bethlem myopathy 1A",
"qualitative or quantitative protein defects in neuromuscular diseases",
"human disease",
- "hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
],
"subject_taxon": None,
"subject_taxon_label": None,
"predicate": "biolink:has_phenotype",
+ "original_predicate": None,
"object": "HP:0003701",
"original_object": None,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
+ "UBERON:0000468",
"UBERON:0001630",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
- "UBERON:0000061",
- "HP:0003701",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
"UPHENO:0003432",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
"UPHENO:0002525",
- "UBERON:0011216",
- "UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
- "BFO:0000001",
- "UBERON:0000468",
- "UPHENO:0003047",
- "BFO:0000004",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"UPHENO:0002526",
- "UPHENO:0002359",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0002320",
- "BFO:0000002",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UBERON:0000465",
- "BFO:0000020",
- "UPHENO:0002386",
+ "HP:0033127",
"UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002816",
"UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "HP:0033127",
+ "UPHENO:0002385",
+ "UPHENO:0001001",
+ "UPHENO:0002386",
+ "HP:0011804",
"BFO:0000040",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
"UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
"UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0003701",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
"object_label": "Proximal muscle weakness",
"object_closure_label": [
- "All",
- "Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
"material entity",
- "anatomical entity",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
+ "anatomical structure",
+ "phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
+ "independent continuant",
"muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Proximal muscle weakness",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "muscle structure",
"decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "Abnormality of the musculature",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
- "entity",
+ "Proximal muscle weakness",
"multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
- "musculature of body",
+ "organ system subdivision",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
+ "muscle organ physiology phenotype",
"anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "muscle organ",
+ "organ phenotype",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity",
+ "continuant",
+ "musculature of body",
+ "phenotypic effect",
+ "All",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
@@ -1472,6 +1423,18 @@ def association_table():
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
"direction": "outgoing",
},
],
diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py
index d34af18d8..48a82cfeb 100644
--- a/backend/tests/fixtures/association_table_response.py
+++ b/backend/tests/fixtures/association_table_response.py
@@ -5,7 +5,7 @@
def association_table_response():
return {
"responseHeader": {
- "QTime": 0,
+ "QTime": 1,
"params": {
"mm": "100%",
"q": "*:*",
@@ -15,7 +15,7 @@ def association_table_response():
"q.op": "AND",
"fq": [
"category:biolink\\:DiseaseToPhenotypicFeatureAssociation",
- 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121"',
+ 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121"',
],
"facet.mincount": "1",
"sort": "frequency_computed_sortable_float desc, evidence_count desc, subject_label asc, predicate asc, object_label asc, primary_knowledge_source asc",
@@ -24,7 +24,7 @@ def association_table_response():
},
},
"response": {
- "num_found": 4082,
+ "num_found": 4077,
"start": 0,
"docs": [
{
@@ -56,403 +56,381 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"object_label": "Finger joint hypermobility",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "HP:0011729",
+ "UPHENO:0005214",
+ "UPHENO:0084763",
+ "UPHENO:0081581",
+ "UPHENO:0076727",
+ "UPHENO:0081440",
"UPHENO:0086635",
- "UPHENO:0002267",
- "UPHENO:0002926",
+ "HP:0040068",
+ "UBERON:0000468",
+ "UBERON:0015061",
+ "UBERON:0011582",
+ "UBERON:0004375",
+ "UBERON:0000075",
+ "UBERON:0001015",
+ "UBERON:0004905",
+ "UBERON:0010912",
+ "UBERON:0001434",
+ "UBERON:0012141",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0002632",
+ "UPHENO:0003432",
+ "UPHENO:0002733",
+ "UPHENO:0076692",
+ "UPHENO:0084761",
+ "HP:0011297",
+ "UPHENO:0002525",
"UPHENO:0086700",
"UPHENO:0079876",
"HP:0011843",
- "UBERON:0004120",
"UBERON:0010708",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0002470",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:0003839",
- "UPHENO:0003066",
- "UPHENO:0077419",
- "UPHENO:0002643",
- "UPHENO:0005092",
- "UPHENO:0002554",
- "UBERON:0010758",
- "UBERON:0004765",
+ "UBERON:0001474",
"HP:0000001",
- "UPHENO:0003015",
+ "UPHENO:0003415",
+ "UPHENO:0086633",
+ "UPHENO:0077421",
"UPHENO:0076723",
"UPHENO:0002905",
"HP:0034430",
"HP:0000924",
+ "UPHENO:0002530",
+ "UPHENO:0003514",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UBERON:0000467",
+ "UBERON:0000153",
+ "UBERON:0000026",
+ "UBERON:0005881",
+ "UBERON:0000383",
+ "UBERON:0002398",
+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UBERON:0012354",
+ "UPHENO:0002269",
+ "UPHENO:0003227",
+ "HP:0001167",
+ "UPHENO:0002861",
+ "HP:0001382",
+ "HP:0002813",
+ "HP:0002817",
+ "UPHENO:0002536",
+ "UPHENO:0076943",
+ "UPHENO:0002830",
+ "UPHENO:0003799",
+ "UPHENO:0076944",
+ "UBERON:0010707",
+ "UBERON:0002204",
+ "UBERON:0010758",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0003657",
+ "UPHENO:0082875",
+ "UPHENO:0076703",
+ "UPHENO:0002964",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0004710",
+ "UBERON:0002389",
+ "UBERON:0002101",
+ "UBERON:0001460",
+ "UBERON:0002529",
+ "UPHENO:0076740",
+ "UPHENO:0002593",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0003812",
"UPHENO:0002816",
"UPHENO:0004476",
- "UPHENO:0002536",
- "UPHENO:0076692",
- "UPHENO:0084761",
+ "HP:0006256",
+ "UPHENO:0002963",
+ "UPHENO:0002586",
+ "UPHENO:0002385",
+ "UPHENO:0002880",
+ "UBERON:0001062",
+ "UBERON:0034925",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UBERON:0004765",
+ "UPHENO:0001001",
+ "UPHENO:0002983",
+ "UPHENO:0002650",
+ "UPHENO:0002949",
+ "UPHENO:0084448",
+ "HP:0011844",
+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0034921",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
+ "UBERON:0010538",
+ "UPHENO:0002526",
+ "UPHENO:0002559",
+ "UPHENO:0002648",
"HP:0430046",
"UPHENO:0002600",
"BFO:0000002",
- "UBERON:0002204",
- "UBERON:0011582",
- "UBERON:0015061",
- "UBERON:0004375",
- "UBERON:0002544",
- "UBERON:0004708",
- "UBERON:5002389",
- "UPHENO:0001001",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0002746",
"UPHENO:0001002",
"HP:0006094",
- "UPHENO:0002650",
- "UPHENO:0003799",
- "UBERON:0005451",
- "UBERON:0012140",
- "UBERON:0012354",
- "UBERON:0002398",
- "HP:0011729",
- "BFO:0000002",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
+ "UPHENO:0003005",
"UPHENO:0002870",
"UPHENO:0002896",
- "UPHENO:0002648",
- "UBERON:0001062",
- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
+ "HP:0040064",
+ "BFO:0000001",
+ "UBERON:0004120",
+ "UBERON:0000062",
"UBERON:0002428",
- "UPHENO:0002526",
+ "UBERON:0004381",
+ "UBERON:0002091",
+ "UBERON:0004708",
+ "UPHENO:0002944",
+ "UPHENO:0003095",
"UPHENO:0087006",
"HP:0001155",
"HP:0011842",
- "UPHENO:0003432",
- "UPHENO:0002733",
- "UPHENO:0076944",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "UBERON:0034921",
- "UBERON:0011249",
- "UBERON:0010712",
- "UBERON:0002091",
- "UBERON:0000982",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "UPHENO:0004909",
- "UPHENO:0002632",
+ "UPHENO:0003066",
+ "UPHENO:0077419",
+ "UPHENO:0002643",
+ "UPHENO:0001003",
+ "UPHENO:0003049",
"UPHENO:0002568",
- "BFO:0000001",
- "HP:0002817",
- "UPHENO:0003514",
- "BFO:0000001",
+ "UPHENO:0003065",
"UBERON:0004770",
"UBERON:0004288",
- "UBERON:0000468",
- "UBERON:0000153",
- "UBERON:0000026",
"UBERON:5002544",
- "UPHENO:0003095",
- "HP:0005922",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "BFO:0000004",
- "UBERON:0006058",
- "UBERON:0001474",
"UBERON:0010363",
- "UBERON:0010538",
- "UPHENO:0076703",
- "HP:0001167",
- "UPHENO:0002861",
- "UPHENO:0002949",
- "UPHENO:0081440",
- "UBERON:0034925",
- "UPHENO:0002593",
- "UPHENO:0003005",
- "HP:0040068",
- "UPHENO:0002385",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0000465",
- "UBERON:0015212",
- "UBERON:0012141",
- "UPHENO:0077421",
- "UPHENO:0005214",
- "UPHENO:0084763",
- "BFO:0000020",
- "UPHENO:0076943",
- "UPHENO:0084448",
- "UPHENO:0002976",
- "UBERON:0002389",
- "UBERON:0002101",
- "UPHENO:0002944",
- "UPHENO:0002708",
- "HP:0006256",
- "UPHENO:0002963",
- "HP:0040064",
- "UBERON:0000075",
- "UBERON:0000383",
- "UBERON:0001015",
- "UBERON:0001434",
- "UPHENO:0003227",
- "HP:0001382",
- "UPHENO:0002559",
- "UPHENO:0081581",
- "HP:0033127",
- "UPHENO:0003065",
- "BFO:0000040",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000475",
- "UBERON:0000062",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0002513",
- "UBERON:0001460",
- "UBERON:0002529",
- "UBERON:0003657",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "HP:0011844",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "UPHENO:0002731",
- "HP:0000118",
- "UPHENO:0002530",
- "HP:0011297",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UBERON:0010912",
+ "UBERON:0011249",
+ "UBERON:0000982",
+ "UBERON:0010712",
+ "UBERON:0003839",
+ "UBERON:0002102",
+ "UBERON:0002470",
+ "UBERON:0008785",
+ "UBERON:0012139",
],
"object_closure_label": [
- "All",
- "articulation phenotype",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal joint physiology",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "limb bone phenotype",
- "musculature of body phenotype",
- "autopodial extension phenotype",
- "anatomical structure",
- "organism subdivision",
- "organ",
- "digit",
- "paired limb/fin",
- "manual digit plus metapodial segment",
- "skeleton of limb phenotype",
- "Joint hypermobility",
- "skeletal element phenotype",
- "Abnormality of hand joint mobility",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
- "multi organ part structure",
- "appendicular skeletal system",
- "limb skeleton subdivision",
- "appendicular skeleton",
- "skeletal joint",
- "phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
+ "anatomical entity physiology phenotype",
+ "endochondral bone phenotype",
"musculature phenotype",
"manual digit phenotype",
- "Abnormality of limbs",
- "material entity",
- "multicellular anatomical structure",
- "anatomical system",
- "subdivision of organism along appendicular axis",
- "skeletal element",
+ "material anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Abnormality of limb bone",
+ "organ",
"pectoral appendage",
- "bone of appendage girdle complex",
- "endochondral bone",
+ "manual digit",
+ "limb",
"arm",
"limb segment",
- "limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
- "paired limb/fin segment phenotype",
+ "limb segment phenotype",
+ "skeleton of limb phenotype",
+ "Abnormal finger morphology",
+ "appendage phenotype",
+ "Joint hypermobility",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "appendicular skeleton phenotype",
+ "endochondral element phenotype",
+ "multi-limb segment region phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
"material anatomical entity",
- "multicellular organism",
+ "anatomical structure",
+ "forelimb joint",
"forelimb",
"autopod region",
"upper limb segment",
"segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
- "anatomical collection",
- "segment of manus",
- "digitopodium region",
- "acropodium region",
- "manus",
- "Abnormal hand morphology",
- "continuant",
- "multicellular organism morphology phenotype",
+ "phenotype",
+ "forelimb phenotype",
+ "forelimb morphology phenotype",
+ "increased skeletal joint mobility",
"Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
- "taxon specific phenotype",
- "digit morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
- "multi-limb segment region",
- "bone element",
+ "limb bone morphology phenotype",
+ "paired limb/fin segment phenotype",
+ "independent continuant",
+ "material entity",
+ "skeletal element",
"endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
- "upper limb segment phenotype",
- "skeletal joint mobility phenotype",
- "anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
- "increased skeletal joint mobility",
+ "appendicular skeletal system",
+ "skeletal joint",
+ "limb skeleton subdivision",
+ "manual digitopodium region",
+ "anatomical system physiology phenotype",
"paired limb/fin skeleton phenotype",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "endochondral element phenotype",
- "quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
- "limb endochondral element",
- "bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
- "material anatomical entity physiology phenotype",
- "organism subdivision phenotype",
- "independent continuant",
- "anterior region of body",
- "appendage",
- "digit plus metapodial segment",
"Abnormal limb bone morphology",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
"skeletal joint phenotype",
"increased anatomical entity mobility",
"multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
- "manual digitopodium region",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "limb bone",
+ "skeleton of limb",
+ "appendicular skeleton morphology phenotype",
"bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
+ "Abnormality of hand joint mobility",
+ "anatomical system phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ system subdivision phenotype",
+ "pectoral complex",
+ "bone of appendage girdle complex",
+ "endochondral bone",
+ "limb joint",
+ "subdivision of skeletal system phenotype",
+ "autopod region morphology phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
"multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
- "organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
- "limb skeleton subdivision phenotype",
- "bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
+ "Abnormality of limbs",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "multi organ part structure",
+ "organ system subdivision",
+ "organism subdivision",
"subdivision of skeletal system",
- "musculature of body",
"musculature",
+ "articulation",
+ "subdivision of skeleton",
"skeletal system",
- "subdivision of skeletal system phenotype",
- "anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
+ "bone element",
+ "manus",
+ "segment of manus",
+ "digitopodium region",
+ "acropodium region",
"Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
+ "skeletal element phenotype",
"subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
+ "multicellular organism morphology phenotype",
+ "upper limb segment phenotype",
"limb phenotype",
+ "skeleton phenotype",
+ "skeletal joint mobility phenotype",
+ "anatomical system",
+ "limb endochondral element",
+ "paired limb/fin skeleton",
+ "bone of free limb or fin",
+ "subdivision of organism along appendicular axis",
+ "digit",
+ "manual digit plus metapodial segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "skeletal system morphology phenotype",
+ "articulation phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal digit morphology",
+ "appendage girdle complex",
+ "anterior region of body",
+ "appendage",
+ "autopodial extension",
+ "musculature of body",
+ "appendicular skeleton",
+ "paired limb/fin",
+ "subdivision of organism along appendicular axis phenotype",
+ "phenotypic effect",
+ "Finger joint hypermobility",
+ "skeletal system phenotype",
+ "pectoral appendage phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "anatomical structure phenotype",
+ "digit morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal musculoskeletal physiology",
+ "continuant",
+ "articular system",
+ "skeleton",
"system",
+ "digit plus metapodial segment",
+ "All",
+ "organ phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "Abnormality of the upper limb",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "anatomical entity phenotype",
+ "anatomical entity mobility phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "entity",
+ "lateral structure",
+ "multicellular organism",
+ "musculoskeletal system",
],
"evidence_count": 6,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0006094",
@@ -486,165 +464,145 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"object_label": "Hypotonia",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "HP:0003808",
- "UPHENO:0002267",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0000465",
- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
- "UBERON:0001062",
- "UBERON:0000061",
- "UPHENO:0002526",
- "UPHENO:0003432",
- "UPHENO:0002525",
"UBERON:0000468",
- "UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
- "UPHENO:0082555",
- "UPHENO:0001003",
- "BFO:0000001",
+ "UBERON:0001630",
+ "UBERON:0001015",
"UPHENO:0003047",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003432",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
"UPHENO:0082557",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
"UBERON:0000383",
- "UBERON:0001015",
"UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"HP:0033127",
+ "UPHENO:0002976",
"BFO:0000040",
- "UBERON:0000467",
- "UBERON:0000062",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
"UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001",
],
"object_closure_label": [
- "All",
- "muscle organ phenotype",
- "Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "organ system subdivision",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
"material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
- "Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
- "decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
"independent continuant",
- "phenotypic effect",
- "Abnormality of the musculature",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
"entity",
+ "anatomical structure",
"multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
"muscle organ physiology phenotype",
- "multicellular organism phenotype",
- "anatomical entity",
- "organ phenotype",
- "Abnormal muscle tone",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
"musculature of body",
- "musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
],
"evidence_count": 6,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001252",
@@ -672,227 +630,207 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"object_label": "Increased variability in muscle fiber diameter",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "HP:0025354",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UPHENO:0002564",
"UPHENO:0086457",
- "UPHENO:0076710",
- "UBERON:0000467",
- "CL:0000000",
- "UBERON:0005090",
- "UBERON:0018254",
- "UBERON:0004120",
- "HP:0012084",
- "UPHENO:0002554",
- "BFO:0000040",
- "HP:0000001",
- "HP:0004303",
- "UPHENO:0079564",
- "HP:0025461",
- "UPHENO:0002816",
- "UPHENO:0076692",
- "UPHENO:0077801",
- "BFO:0000002",
- "CL:0002242",
- "CL:0000188",
+ "UBERON:0000468",
"CL:0000183",
+ "CL:0000255",
"CL:0000211",
"UBERON:0001630",
"UBERON:0002385",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UPHENO:0079562",
- "UPHENO:0079572",
- "BFO:0000002",
- "UPHENO:0003022",
- "UBERON:0000061",
- "CL:0008002",
+ "UBERON:0001015",
+ "UPHENO:0087047",
+ "UPHENO:0003047",
+ "UPHENO:0079564",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UPHENO:0077801",
+ "UBERON:0000465",
"CL:0000228",
"CL:0000187",
+ "CL:0000188",
"CL:0000393",
"UBERON:0014892",
"UBERON:0002036",
- "UPHENO:0002526",
- "HP:0011805",
- "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0004303",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0086462",
+ "UPHENO:0076710",
"UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002720",
+ "UPHENO:0002897",
+ "UPHENO:0079572",
+ "CL:0002242",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "CL:0002372",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "BFO:0000001",
"RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0088180",
+ "UPHENO:0002554",
"UBERON:0011216",
- "CL:0002372",
+ "CL:4052002",
"CL:0000737",
+ "CL:0008002",
"UBERON:0001134",
- "UPHENO:0002568",
- "BFO:0000001",
- "UBERON:0000479",
- "UPHENO:0002720",
- "UPHENO:0002897",
- "UPHENO:0002536",
- "UBERON:0000468",
- "UPHENO:0087047",
- "UPHENO:0003047",
- "UPHENO:0002564",
+ "BFO:0000002",
"BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002949",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"HP:0003557",
"UPHENO:0075195",
- "UPHENO:0086462",
- "UBERON:0000465",
- "UPHENO:0002976",
- "UPHENO:0086172",
- "UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "UPHENO:0081581",
- "UPHENO:0003081",
- "HP:0033127",
- "UPHENO:0001003",
- "BFO:0000001",
- "UBERON:0001062",
- "UBERON:0010000",
+ "UPHENO:0003022",
+ "CL:0000000",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0004120",
+ "UBERON:0000479",
"UBERON:0000062",
- "HP:0003011",
- "UPHENO:0088180",
- "PATO:0000001",
- "HP:0000118",
- "UPHENO:0002530",
+ "UPHENO:0086172",
+ "HP:0011805",
+ "HP:0012084",
+ "UPHENO:0079562",
+ "UPHENO:0002568",
+ "BFO:0000040",
],
"object_closure_label": [
- "All",
- "Abnormal muscle fiber morphology",
- "morphology of cell of skeletal muscle phenotype",
- "Abnormal cell morphology",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
+ "skeletal muscle tissue morphology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "tissue",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
"myotube",
- "striated muscle cell",
- "skeletal muscle tissue",
- "phenotype",
- "phenotypic effect",
- "musculature phenotype",
+ "cell phenotype",
+ "Phenotypic abnormality",
+ "Increased variability in muscle fiber diameter",
+ "size of anatomical entity phenotype",
"morphology of muscle cell phenotype",
- "anatomical entity",
- "multicellular anatomical structure",
- "tissue",
- "muscle tissue phenotype",
- "skeletal muscle organ, vertebrate phenotype",
- "anatomical entity phenotype",
- "entity",
- "material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "size of cell phenotype",
- "skeletal muscle tissue morphology phenotype",
- "muscle structure phenotype",
- "continuant",
- "multicellular organism morphology phenotype",
- "skeletal musculature phenotype",
- "Abnormality of the musculoskeletal system",
- "taxon specific phenotype",
- "skeletal muscle fiber",
+ "mesoderm-derived structure phenotype",
+ "anatomical structure",
"multinucleate cell",
"muscle cell",
+ "cell of skeletal muscle",
"electrically responsive cell",
"skeletal muscle organ, vertebrate",
"striated muscle tissue",
- "specifically dependent continuant",
- "size of skeletal muscle fiber phenotype",
- "Abnormal skeletal muscle morphology",
- "anatomical structure phenotype",
- "cell of skeletal muscle morphology phenotype",
- "cell phenotype",
- "Increased variability in muscle fiber diameter",
- "size of anatomical entity phenotype",
- "quality",
- "material entity",
- "nucleate cell",
- "cell of skeletal muscle",
- "contractile cell",
- "electrically active cell",
- "muscle organ",
- "muscle tissue",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "tissue phenotype",
"size of cell of skeletal muscle phenotype",
- "muscle organ morphology phenotype",
"independent continuant",
- "Abnormal cellular phenotype",
- "Abnormality of the musculature",
"Abnormality of skeletal muscle fiber size",
- "tissue phenotype",
- "organ system subdivision phenotype",
+ "cell of skeletal muscle morphology phenotype",
+ "anatomical entity",
"entity",
+ "cell",
+ "skeletal musculature",
+ "muscle structure",
+ "mesoderm-derived structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
"morphology of myotube phenotype",
+ "anatomical system",
+ "contractile cell",
+ "eukaryotic cell",
+ "electrically active cell",
+ "muscle organ",
+ "muscle tissue",
+ "syncytial cell",
+ "striated muscle cell",
+ "skeletal muscle fiber",
+ "skeletal muscle tissue",
"organ phenotype",
+ "morphology of cell of skeletal muscle phenotype",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "material anatomical entity",
"musculature of body",
- "musculature",
- "mesoderm-derived structure phenotype",
- "anatomical system",
- "cell",
- "muscle structure",
- "skeletal musculature",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "size of skeletal muscle fiber phenotype",
+ "continuant",
+ "material entity",
"system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "muscle tissue phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ "nucleate cell",
],
"evidence_count": 4,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0003557",
@@ -920,137 +858,117 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease",
],
"object_label": "Motor delay",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0002267",
- "UBERON:0001016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "BFO:0000002",
"HP:0000001",
- "UPHENO:0002536",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
"UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0001002",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
"HP:0012638",
- "UBERON:0010000",
- "BFO:0000002",
+ "UBERON:0001016",
+ "UPHENO:0082875",
"UBERON:0000061",
- "UPHENO:0002525",
- "UBERON:0000468",
- "HP:0000707",
- "UPHENO:0002568",
- "BFO:0000001",
- "HP:0012759",
- "UPHENO:0001003",
- "BFO:0000001",
- "BFO:0000004",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
"UPHENO:0002949",
- "BFO:0000002",
"UPHENO:0004523",
- "UPHENO:0002385",
- "BFO:0000020",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0002963",
- "HP:0001270",
- "BFO:0000040",
"UBERON:0001062",
- "UBERON:0000467",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "HP:0000118",
- "UPHENO:0002530",
- ],
- "object_closure_label": [
- "All",
- "anatomical structure",
- "Motor delay",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "phenotype",
- "phenotypic effect",
- "material entity",
- "anatomical entity",
- "anatomical system",
- "Neurodevelopmental abnormality",
- "taxon specific phenotype",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
+ ],
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
"material anatomical entity phenotype",
- "continuant",
- "continuant",
- "entity",
"nervous system phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "nervous system physiology phenotype",
- "quality",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
"anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "entity",
- "multicellular anatomical structure",
- "specifically dependent continuant",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
"Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
"Abnormality of the nervous system",
- "nervous system",
+ "anatomical entity phenotype",
"Neurodevelopmental delay",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
],
"evidence_count": 4,
"grouping_key": "MONDO:0958235|False|biolink:has_phenotype|HP:0001270",
@@ -1078,171 +996,151 @@ def association_table_response():
"subject_category": "biolink:Disease",
"subject_namespace": "MONDO",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100225",
+ "MONDO:0100545",
"MONDO:0024530",
"MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
+ "MONDO:0008029",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0100225",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0016106",
],
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
"congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
"collagen 6-related myopathy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Bethlem myopathy",
+ "nervous system disorder",
"Bethlem myopathy 1A",
"qualitative or quantitative protein defects in neuromuscular diseases",
"human disease",
- "hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
],
"object_label": "Proximal muscle weakness",
"object_category": "biolink:PhenotypicFeature",
"object_namespace": "HP",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
+ "UBERON:0000468",
"UBERON:0001630",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
- "UBERON:0000061",
- "HP:0003701",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
"UPHENO:0003432",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
"UPHENO:0002525",
- "UBERON:0011216",
- "UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
- "BFO:0000001",
- "UBERON:0000468",
- "UPHENO:0003047",
- "BFO:0000004",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"UPHENO:0002526",
- "UPHENO:0002359",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0002320",
- "BFO:0000002",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UBERON:0000465",
- "BFO:0000020",
- "UPHENO:0002386",
+ "HP:0033127",
"UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002816",
"UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "HP:0033127",
+ "UPHENO:0002385",
+ "UPHENO:0001001",
+ "UPHENO:0002386",
+ "HP:0011804",
"BFO:0000040",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
"UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
"UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530",
+ "HP:0003701",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
"object_closure_label": [
- "All",
- "Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
"material entity",
- "anatomical entity",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
+ "anatomical structure",
+ "phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
+ "independent continuant",
"muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Proximal muscle weakness",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "muscle structure",
"decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "Abnormality of the musculature",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
- "entity",
+ "Proximal muscle weakness",
"multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
- "musculature of body",
+ "organ system subdivision",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
+ "muscle organ physiology phenotype",
"anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
+ "muscle organ",
+ "organ phenotype",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity",
+ "continuant",
+ "musculature of body",
+ "phenotypic effect",
+ "All",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
],
"evidence_count": 3,
"grouping_key": "MONDO:0024530|False|biolink:has_phenotype|HP:0003701",
diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py
index ed4985cbe..54a900741 100644
--- a/backend/tests/fixtures/associations.py
+++ b/backend/tests/fixtures/associations.py
@@ -6,186 +6,127 @@ def associations():
return {
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 11435,
"items": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
- "BFO:0000016",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0100531",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
- ],
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity",
- ],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
+ "id": "uuid:b35b6907-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0002465",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
+ "HP:0002465",
+ "UPHENO:0002433",
+ "HP:0002167",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "HP:0000001",
+ "HP:0025792",
+ "UPHENO:0002530",
+ "HP:0034434",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
+ "UPHENO:0002385",
+ "BFO:0000040",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "HP:4000072",
+ "UPHENO:0001003",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "object_label": "Poor speech",
"object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "Poor speech",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular anatomical structure",
+ "Abnormal speech pattern",
+ "multicellular anatomical structure phenotype",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "material anatomical entity",
"continuant",
- "familial dilated cardiomyopathy",
+ "phenotype",
+ "Abnormal language feature",
+ "phenotypic effect",
+ "Abnormal communication",
+ "All",
+ "Abnormal cognitive process",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002465",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -197,9 +138,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -209,165 +150,314 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
"MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0018276",
"MONDO:0020120",
- "MONDO:0700069",
"MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
"MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0018278",
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
+ "disorder of glycosylation",
"hereditary neuromuscular disease",
"hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6909-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0002435",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "HP:0034238",
+ "UPHENO:0081581",
+ "UPHENO:0051150",
+ "HP:0002435",
+ "UPHENO:0076702",
+ "UBERON:0005423",
+ "UPHENO:0076791",
+ "HP:0000707",
+ "UPHENO:0076692",
+ "UBERON:0006598",
+ "UBERON:0001017",
+ "UBERON:0002360",
+ "UBERON:0010371",
+ "UBERON:0016880",
+ "UBERON:0016879",
+ "UBERON:0000483",
+ "UBERON:0005291",
+ "UBERON:0003914",
+ "GO:0009790",
+ "GO:0048729",
+ "GO:0048598",
+ "GO:0035239",
+ "GO:0035148",
+ "GO:0009888",
+ "GO:0048731",
+ "GO:0035295",
+ "GO:0009792",
+ "GO:0002009",
+ "GO:0016331",
+ "GO:0060562",
+ "GO:0072175",
+ "GO:0060429",
+ "GO:0060606",
+ "GO:0007399",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002525",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "GO:0001841",
+ "GO:0014020",
+ "HP:0045005",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UBERON:0001016",
+ "UBERON:0001049",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "GO:0009653",
+ "GO:0048646",
+ "GO:0048856",
+ "UPHENO:0051077",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0034925",
+ "GO:0032501",
+ "GO:0032502",
+ "UBERON:0000094",
+ "UBERON:0000025",
+ "UBERON:0000922",
+ "UPHENO:0001002",
+ "UPHENO:0049623",
+ "UPHENO:0050108",
+ "UBERON:0002050",
+ "GO:0008150",
+ "UBERON:0011216",
+ "GO:0007275",
+ "UPHENO:0002949",
+ "HP:0410043",
+ "UPHENO:0004523",
+ "HP:0010651",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000003",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0021915",
+ "UPHENO:0001001",
+ "UPHENO:0002548",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UBERON:0000479",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0000468",
+ "GO:0043009",
+ "GO:0001838",
+ "GO:0001843",
+ "UPHENO:0051003",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UBERON:0010743",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Meningocele",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "material anatomical entity phenotype",
+ "Abnormal neural tube morphology",
+ "nervous system phenotype",
+ "Meningocele",
+ "nervous system morphology phenotype",
+ "biological_process",
+ "tissue",
+ "organ",
+ "anatomical conduit",
+ "multicellular organism",
+ "multicellular organism development",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "tube closure phenotype",
+ "biological_process phenotype",
+ "independent continuant",
+ "embryonic structure",
+ "material entity",
+ "membrane organ",
+ "tube",
+ "embryo",
+ "Closed neural tube defect",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity",
+ "developing anatomical structure",
+ "presumptive structure",
+ "chordate embryonic development",
+ "embryonic epithelial tube formation",
+ "neural tube closure",
+ "neural tube closure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "meninx",
+ "ecto-epithelium",
+ "future nervous system",
+ "future central nervous system",
+ "epithelium",
+ "embryonic tissue",
+ "tube formation phenotype",
+ "anatomical structure",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "epithelial tube",
+ "neural tube formation",
+ "primary neural tube formation",
+ "phenotypic effect",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "developmental process phenotype",
+ "multicellular organism morphology phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "neural tube",
+ "central nervous system morphology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "embryo development ending in birth or egg hatching",
+ "morphogenesis of an epithelium",
+ "morphogenesis of embryonic epithelium",
+ "epithelial tube morphogenesis",
+ "epithelial tube formation",
+ "epithelium development",
+ "tube closure",
+ "nervous system development",
+ "phenotype",
+ "Abnormal meningeal morphology",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "occurrent",
+ "process",
+ "meningeal cluster",
+ "multicellular organismal process",
+ "developmental process",
+ "anatomical structure morphogenesis",
+ "anatomical structure formation involved in morphogenesis",
+ "anatomical structure development",
+ "embryo development",
+ "tissue morphogenesis",
+ "embryonic morphogenesis",
+ "tube morphogenesis",
+ "tube formation",
+ "tissue development",
+ "system development",
+ "tube development",
+ "All",
+ "Neural tube defect",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "anatomical structure phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "nervous system",
+ "neural tube development",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002435",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -379,9 +469,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -391,165 +481,192 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:2f87c310-fec5-4095-8401-bf84c89fc569",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
- "MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0015286",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
"myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b690c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0010864",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "MONDO:0045010",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0700069",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "BFO:0000017",
- "BFO:0000016",
- "MONDO:0017741",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0015286",
- "MONDO:0002081",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0000061",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "BFO:0000040",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0024322",
- "MONDO:0003847",
- "MONDO:0000001",
+ "BFO:0000003",
+ "UPHENO:0001003",
+ "HP:0010864",
+ "BFO:0000015",
],
- "object_label": "myopathy caused by variation in POMGNT2",
+ "object_label": "Intellectual disability, severe",
"object_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "realizable entity",
- "entity",
- "inborn errors of metabolism",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "material anatomical entity",
+ "Intellectual disability, severe",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "Abnormal nervous system physiology",
+ "occurrent",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "musculoskeletal system disorder",
- "disposition",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "metabolic disease",
- "glycoprotein metabolism disease",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0010864",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -561,9 +678,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -573,175 +690,204 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:385545b5-6092-4884-9e9c-eaa9e271f3aa",
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "MONDO:0800209",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "fibrosis of extraocular muscles, congenital, 3b",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6915-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0003712",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0081581",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0001001",
+ "HP:0003712",
+ "UPHENO:0001002",
+ "HP:0030236",
+ "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "HP:0011805",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
"BFO:0000001",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0007614",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569",
],
- "object_label": "congenital fibrosis of extraocular muscles",
+ "object_label": "Skeletal muscle hypertrophy",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "phenotype",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system phenotype",
+ "Abnormality of muscle size",
+ "skeletal musculature",
+ "muscle structure",
+ "organ system subdivision phenotype",
"entity",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
- "myopathy",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "Abnormal skeletal muscle morphology",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "Skeletal muscle hypertrophy",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "musculature of body",
+ "All",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0003712",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -753,9 +899,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -765,195 +911,210 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:2b6bf9c8-5099-414e-9bfc-eef68b3929fd",
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0005267",
- "BFO:0000020",
- "MONDO:0800318",
"MONDO:0700223",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "heart disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "disposition",
- ],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
+ ],
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6918-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001276",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "HP:0001276",
+ "UPHENO:0002308",
"BFO:0000002",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "object_label": "Hypertonia",
"object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "Hypertonia",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "material anatomical entity",
+ "anatomical structure",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "organ phenotype",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "musculature of body",
+ "phenotypic effect",
"continuant",
- "familial dilated cardiomyopathy",
+ "independent continuant",
+ "All",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0800318||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001276",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -965,9 +1126,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -977,163 +1138,176 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:2d992073-c362-4676-a4fb-5c725f8175d1",
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0957270",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 28",
"myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "entity",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b691a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001270",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Motor delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1145,9 +1319,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -1157,151 +1331,186 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b691c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001270",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Motor delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1313,9 +1522,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -1325,167 +1534,260 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:cdf868e1-085e-4f2a-a113-759256c509d8",
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0008116",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0958176",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "oculopharyngeal muscular dystrophy 1",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b691e-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001288",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UPHENO:0049708",
+ "UPHENO:0079833",
+ "UPHENO:0049703",
+ "HP:0000707",
+ "UPHENO:0002525",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "HP:0000001",
+ "UPHENO:0050613",
+ "UPHENO:0002530",
+ "UPHENO:0050606",
+ "UPHENO:0002536",
+ "UPHENO:0079826",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UBERON:0001016",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0049699",
+ "UBERON:0000061",
+ "UPHENO:0049622",
+ "HP:0100022",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0032501",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "HP:0001288",
+ "GO:0008150",
+ "UBERON:0000468",
+ "GO:0050879",
+ "GO:0007610",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "BFO:0000003",
+ "NBO:0000403",
+ "NBO:0000001",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "UPHENO:0049587",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
+ "BFO:0000015",
+ "BFO:0000040",
],
- "object_label": "oculopharyngeal muscular dystrophy",
+ "object_label": "Gait disturbance",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "multicellular organismal movement",
+ "behavior",
+ "system process",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "phenotype",
+ "biological_process phenotype",
+ "anatomical system physiology phenotype",
+ "behavior phenotype",
+ "anatomical system phenotype",
+ "Gait disturbance",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "nervous system process phenotype",
+ "voluntary movement behavior phenotype",
"entity",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "multicellular organismal movement phenotype",
+ "taxon specific phenotype",
+ "material anatomical entity",
+ "continuant",
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
+ "anatomical entity phenotype",
+ "behavior process phenotype",
+ "anatomical structure phenotype",
+ "occurrent",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "All",
+ "musculoskeletal movement phenotype",
+ "system process phenotype",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "multicellular anatomical structure",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001288",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040281",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1497,9 +1799,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -1509,167 +1811,172 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:034d4f2c-a3f6-42f6-afa6-dddaac5b15a7",
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0958195",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition",
- ],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
+ ],
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6924-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001250",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
- "object_label": "oculopharyngeal muscular dystrophy",
+ "object_label": "Seizure",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
+ "multicellular anatomical structure",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958195||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1681,9 +1988,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -1693,163 +2000,172 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:0768c5ef-9fcd-4678-a304-dcca1ad4f13b",
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0958233",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_label": "Bethlem myopathy 1B",
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "Bethlem myopathy 1B",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6925-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001250",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000002",
+ "BFO:0000004",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Seizure",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "congenital muscular dystrophy",
+ "multicellular anatomical structure",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958233||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -1861,9 +2177,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -1873,163 +2189,238 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:d1747e5a-0b37-4bcf-8ec8-cbc9d5fca0bb",
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958234",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_label": "Bethlem myopathy 1C",
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "Bethlem myopathy 1C",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "congenital muscular dystrophy",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6929-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001252",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001",
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Hypotonia",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "congenital muscular dystrophy",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958234||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2041,9 +2432,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -2053,159 +2444,204 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:5222c632-e6ff-48d6-aa6e-bee3197db19b",
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
],
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b692a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001252",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
"BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Hypotonia",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958235||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2217,171 +2653,236 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
"sex_qualifier_label": None,
"sex_qualifier_namespace": None,
- "sex_qualifier_category": None,
- "stage_qualifier_label": None,
- "stage_qualifier_namespace": None,
- "stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:89e5d336-99af-4738-beba-65d47ba9bc21",
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958236",
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
+ "sex_qualifier_category": None,
+ "stage_qualifier_label": None,
+ "stage_qualifier_namespace": None,
+ "stage_qualifier_category": None,
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
"MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
],
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Ullrich congenital muscular dystrophy 1C",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "congenital muscular dystrophy",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b692f-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001249",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Intellectual disability",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958236||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040281",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2393,9 +2894,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -2405,155 +2906,200 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:87e4a926-68eb-4211-8062-81a54a0514e4",
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958353",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "intermediate collagen VI-related muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6930-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001249",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040",
],
- "object_label": "collagen 6-related congenital muscular dystrophy",
+ "object_label": "Intellectual disability",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
"entity",
- "congenital muscular dystrophy",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2565,9 +3111,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -2577,163 +3123,210 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:f170926f-95a4-42ad-991e-c6ef1fcb6f75",
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000002",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
"MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
"MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
"MONDO:0015152",
- "BFO:0000017",
- "MONDO:0971171",
- "MONDO:0003847",
- "MONDO:0000001",
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "autosomal recessive limb-girdle muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "progressive muscular dystrophy",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
"autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 29",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
+ "congenital disorder of glycosylation",
"limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6933-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001263",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Global developmental delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
"entity",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:0971171||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2745,9 +3338,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -2757,151 +3350,186 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
- "species_context_qualifier": None,
- "species_context_qualifier_label": None,
- "species_context_qualifier_namespace": None,
- "species_context_qualifier_category": None,
- },
- {
- "id": "urn:uuid:0cf00103-088b-4832-b0db-27a8c44d47e5",
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "original_subject": None,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:1040033",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000020",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
],
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
- "congenital muscular dystrophy without intellectual disability",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
],
- "subject_taxon": None,
- "subject_taxon_label": None,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": None,
+ "species_context_qualifier_label": None,
+ "species_context_qualifier_namespace": None,
+ "species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
+ },
+ {
+ "id": "uuid:b35b6935-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": None,
+ "subject_label": "GMPPB",
+ "subject_closure_label": None,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0001263",
"original_object": None,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001",
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Global developmental delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MONDO:1040033||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -2913,9 +3541,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -2925,109 +3553,300 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
+ ],
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
+ "disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
+ ],
"species_context_qualifier": None,
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
},
{
- "id": "191417f1-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b6938-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": None,
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
+ "subject_label": "GMPPB",
"subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0007360",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UBERON:0000465",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0003936",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0010000",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0001001",
+ "UPHENO:0080079",
+ "UPHENO:0003952",
+ "UPHENO:0076720",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002037",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0002977",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "UBERON:0001062",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "HP:0007360",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "NCBITaxon:1",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "BFO:0000004",
+ "UPHENO:0002548",
+ "HP:0001317",
+ "UPHENO:0075948",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
- "MONDO:0000001",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UPHENO:0003459",
+ "UPHENO:0002765",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0080089",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ "UBERON:0001017",
],
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "material anatomical entity phenotype",
+ "cerebellum phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "Abnormal cerebellum morphology",
+ "metencephalon phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "independent continuant",
+ "material entity",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "organ subunit phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "organ part phenotype",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "cerebellum",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "material anatomical entity",
+ "Opisthokonta",
+ "anatomical entity phenotype",
"continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "central nervous system",
+ "All",
+ "Abnormality of the nervous system",
"entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
+ "nervous system",
+ "Eumetazoa",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:3817493||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007360",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3039,9 +3858,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -3051,103 +3870,264 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "myopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease",
+ ],
"species_context_qualifier": None,
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
},
{
- "id": "19141853-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b6939-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": None,
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
+ "subject_label": "GMPPB",
"subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0007361",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "UBERON:0000061",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "UPHENO:0076808",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0003952",
+ "UPHENO:0076805",
+ "UPHENO:0002530",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002298",
+ "UBERON:0000988",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0002363",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0081582",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "UPHENO:0002949",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "UPHENO:0004523",
+ "UPHENO:0003063",
+ "NCBITaxon:1",
+ "UBERON:0001062",
+ "UPHENO:0075948",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "UBERON:0000062",
+ "UPHENO:0003459",
+ "HP:0007361",
+ "UPHENO:0002765",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
],
- "object_label": "Duchenne muscular dystrophy",
+ "object_label": "Abnormal pons morphology",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "hindbrain phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "pons morphology phenotype",
+ "metencephalon phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "material entity",
+ "Abnormal brainstem morphology",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "Eukaryota",
+ "anatomical structure",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "Abnormal pons morphology",
+ "organ subunit phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "organ part phenotype",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "brainstem",
+ "pons",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "pons phenotype",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "All",
+ "brainstem morphology phenotype",
+ "Abnormality of the nervous system",
"entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:5529018||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007361",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3159,9 +4139,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -3171,103 +4151,278 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
+ ],
"species_context_qualifier": None,
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
},
{
- "id": "1914187f-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b693a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": None,
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
+ "subject_label": "GMPPB",
"subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0007340",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0080575",
+ "HP:0009127",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0010709",
+ "UBERON:0014892",
+ "HP:0000001",
+ "HP:0003690",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000026",
+ "UBERON:0000383",
+ "UPHENO:0002861",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "UPHENO:0002830",
+ "UBERON:0010707",
+ "UBERON:0004480",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0010890",
+ "UPHENO:0002320",
+ "UPHENO:0002526",
+ "UPHENO:0002308",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002945",
+ "UPHENO:0003022",
+ "HP:0040064",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UBERON:0004708",
+ "UPHENO:0002847",
+ "HP:0011805",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679",
+ "UBERON:0007271",
+ "UBERON:0014792",
],
- "object_label": "Duchenne muscular dystrophy",
+ "object_label": "Lower limb muscle weakness",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "Lower limb muscle weakness",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "limb",
+ "appendage phenotype",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "anatomical structure",
+ "skeletal muscle organ, vertebrate",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "muscle structure physiology phenotype",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical structure physiology phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "decreased anatomical entity strength",
+ "organ system subdivision phenotype",
"entity",
+ "pelvic complex",
+ "musculature of limb",
+ "decreased pelvic complex muscle strength",
+ "Abnormal skeletal muscle morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limbs",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "organism subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
+ "limb phenotype",
+ "anatomical system",
+ "muscle organ",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "appendage girdle complex",
+ "appendage",
+ "musculature of body",
+ "paired limb/fin",
+ "phenotype",
+ "musculature of pelvic complex phenotype",
+ "phenotypic effect",
+ "system",
+ "All",
+ "organ phenotype",
+ "Limb muscle weakness",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multicellular organism",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007340",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3279,9 +4434,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -3291,109 +4446,348 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152",
+ ],
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
+ "disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease",
+ ],
"species_context_qualifier": None,
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "original_subject": None,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b693c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": None,
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
+ "subject_label": "GMPPB",
"subject_closure_label": None,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": None,
+ "object": "HP:0002518",
+ "original_object": None,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "HP:0010993",
+ "UPHENO:0002874",
+ "UPHENO:0002834",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "UPHENO:0087531",
+ "UPHENO:0076791",
+ "UPHENO:0087518",
+ "UPHENO:0081562",
+ "UPHENO:0074038",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UPHENO:0074051",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000454",
+ "UBERON:0000955",
+ "UBERON:0002316",
+ "UBERON:0003544",
+ "HP:0000001",
+ "HP:0002060",
+ "UPHENO:0073898",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0073978",
+ "UPHENO:0002570",
+ "UPHENO:0002525",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UBERON:0002437",
+ "UPHENO:0074028",
+ "UPHENO:0002538",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "NCBITaxon:33154",
+ "UBERON:0001869",
+ "UBERON:0011215",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0001893",
+ "UBERON:0001890",
+ "UBERON:0019261",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "UPHENO:0002736",
+ "HP:0000118",
+ "HP:0002011",
+ "HP:0002500",
+ "UPHENO:0089366",
+ "UPHENO:0002963",
+ "UPHENO:0003030",
+ "UPHENO:0002841",
+ "UBERON:0001062",
+ "UBERON:0015212",
+ "UBERON:0005162",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "HP:0002518",
+ "UPHENO:0073911",
+ "HP:0100547",
+ "UPHENO:0074054",
+ "UPHENO:0073937",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UPHENO:0074036",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UPHENO:0002873",
+ "NCBITaxon:1",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0003001",
+ "UPHENO:0087902",
+ "UPHENO:0076799",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0002352",
+ "UPHENO:0073886",
+ "UPHENO:0074037",
+ "UPHENO:0002731",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "UPHENO:0081435",
+ "HP:0012639",
+ "UPHENO:0004621",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
- "MONDO:0000001",
+ "BFO:0000040",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0011299",
],
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "object_label": "Abnormal periventricular white matter morphology",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "cerebral hemisphere morphology phenotype",
+ "anatomical entity degeneration in central nervous system",
+ "material anatomical entity phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "multi cell part structure degeneration",
+ "central nervous system cell part cluster phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "Abnormal cerebral white matter morphology",
+ "multicellular organism phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "Abnormal nervous system morphology",
+ "forebrain phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "white matter of telencephalon",
+ "cerebral hemisphere white matter phenotype",
+ "white matter of telencephalon phenotype",
+ "independent continuant",
+ "brain morphology phenotype",
+ "telencephalon morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "multicellular anatomical structure phenotype",
+ "brain white matter phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "regional part of nervous system phenotype",
+ "cerebral hemisphere white matter degeneration",
+ "lateral structure phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
+ "central nervous system",
+ "regional part of brain",
+ "cerebral subcortex",
+ "brain",
+ "white matter",
+ "white matter of forebrain",
+ "telencephalon phenotype",
+ "brain white matter morphology phenotype",
+ "material anatomical entity degeneration",
+ "anatomical entity degeneration",
+ "organ part phenotype",
+ "organ system subdivision",
+ "brain white matter",
+ "cerebral hemisphere white matter",
+ "phenotypic effect",
+ "white matter degeneration",
+ "Abnormal periventricular white matter morphology",
+ "ectoderm-derived structure degeneration",
+ "Abnormal forebrain morphology",
+ "brain white matter degeneration",
+ "multicellular organism morphology phenotype",
+ "white matter of forebrain phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "telencephalon",
+ "forebrain",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "forebrain morphology phenotype",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral subcortex morphology",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "continuant",
+ "Opisthokonta",
+ "cerebral hemisphere",
+ "central nervous system cell part cluster",
+ "phenotype",
+ "Leukoencephalopathy",
+ "anatomical entity phenotype",
+ "anatomical structure degeneration",
+ "white matter phenotype",
+ "white matter of telencephalon degeneration",
+ "material entity",
+ "multi-tissue structure",
+ "organ part",
+ "All",
+ "Abnormal cerebral morphology",
+ "central nervous system cell part cluster degeneration",
+ "cerebral hemisphere white matter morphology phenotype",
+ "white matter of forebrain degeneration",
+ "Abnormality of the nervous system",
+ "multi cell part structure phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multi cell part structure",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa",
],
"object_taxon": None,
"object_taxon_label": None,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": None,
"pathway": None,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": None,
"has_evidence_links": [],
"has_count": None,
"has_total": None,
"has_percentage": None,
"has_quotient": None,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002518",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease",
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype",
},
"publications": None,
"publications_links": [],
- "frequency_qualifier": None,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": None,
"sex_qualifier": None,
"stage_qualifier": None,
@@ -3405,9 +4799,9 @@ def associations():
"qualifier_label": None,
"qualifier_namespace": None,
"qualifier_category": None,
- "frequency_qualifier_label": None,
- "frequency_qualifier_namespace": None,
- "frequency_qualifier_category": None,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": None,
"onset_qualifier_namespace": None,
"onset_qualifier_category": None,
@@ -3417,16 +4811,72 @@ def associations():
"stage_qualifier_label": None,
"stage_qualifier_namespace": None,
"stage_qualifier_category": None,
- "disease_context_qualifier": None,
- "disease_context_qualifier_label": None,
- "disease_context_qualifier_namespace": None,
- "disease_context_qualifier_category": None,
- "disease_context_qualifier_closure": None,
- "disease_context_qualifier_closure_label": None,
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278",
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease",
+ ],
"species_context_qualifier": None,
"species_context_qualifier_label": None,
"species_context_qualifier_namespace": None,
"species_context_qualifier_category": None,
+ "subject_specialization_qualifier": None,
+ "subject_specialization_qualifier_label": None,
+ "subject_specialization_qualifier_namespace": None,
+ "subject_specialization_qualifier_category": None,
+ "subject_specialization_qualifier_closure": None,
+ "subject_specialization_qualifier_closure_label": None,
+ "object_specialization_qualifier": None,
+ "object_specialization_qualifier_label": None,
+ "object_specialization_qualifier_namespace": None,
+ "object_specialization_qualifier_category": None,
+ "object_specialization_qualifier_closure": None,
+ "object_specialization_qualifier_closure_label": None,
},
],
"facet_fields": [],
diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py
index fed6246db..0cfcbcf2b 100644
--- a/backend/tests/fixtures/associations_compact.py
+++ b/backend/tests/fixtures/associations_compact.py
@@ -6,186 +6,186 @@ def associations_compact():
return {
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 11435,
"items": [
{
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002465",
+ "object_label": "Poor speech",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002435",
+ "object_label": "Meningocele",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
- "object_label": "myopathy caused by variation in POMGNT2",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0010864",
+ "object_label": "Intellectual disability, severe",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
- "object_label": "congenital fibrosis of extraocular muscles",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003712",
+ "object_label": "Skeletal muscle hypertrophy",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001276",
+ "object_label": "Hypertonia",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001270",
+ "object_label": "Motor delay",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001270",
+ "object_label": "Motor delay",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001288",
+ "object_label": "Gait disturbance",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "subject_label": "Bethlem myopathy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "subject_label": "Bethlem myopathy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001252",
+ "object_label": "Hypotonia",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001252",
+ "object_label": "Hypotonia",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001249",
+ "object_label": "Intellectual disability",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
- "object_label": "collagen 6-related congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001249",
+ "object_label": "Intellectual disability",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001263",
+ "object_label": "Global developmental delay",
"negated": None,
},
{
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001263",
+ "object_label": "Global developmental delay",
"negated": None,
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007360",
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
"negated": None,
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007361",
+ "object_label": "Abnormal pons morphology",
"negated": None,
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "object_label": "Lower limb muscle weakness",
"negated": None,
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002518",
+ "object_label": "Abnormal periventricular white matter morphology",
"negated": None,
},
],
diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py
index 55f7cb86b..4ca21b8b0 100644
--- a/backend/tests/fixtures/autocomplete.py
+++ b/backend/tests/fixtures/autocomplete.py
@@ -6,7 +6,7 @@ def autocomplete():
return {
"limit": 10,
"offset": 0,
- "total": 328,
+ "total": 335,
"items": [
{
"id": "MONDO:0009215",
@@ -77,13 +77,13 @@ def autocomplete():
"HP:0012210",
"HP:0000081",
"HP:0000085",
- "HP:0003251",
"HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
"HP:0003214",
"HP:0003213",
+ "HP:0003251",
],
"has_phenotype_label": [
"Neutropenia",
@@ -113,1948 +113,1923 @@ def autocomplete():
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
- "Male infertility",
"Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
"Prolonged G2 phase of cell cycle",
"Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Male infertility",
],
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
+ "HP:0000144",
+ "HP:0000789",
"UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
"UPHENO:0049720",
+ "UPHENO:0049588",
"GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
"HP:0011018",
- "GO:0022403",
"GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
"UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
+ "UPHENO:0049671",
"UPHENO:0002240",
+ "HP:0000598",
+ "UPHENO:0052970",
"UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
+ "HP:0000364",
+ "UPHENO:0052161",
"HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
"UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
"UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
"HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
"UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
"HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "HP:0100542",
"UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
+ "HP:0000085",
"HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
+ "UPHENO:0002386",
"UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
"UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
"UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
+ "UPHENO:0002381",
"UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
"UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0000953",
"HP:0002597",
"UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0011818",
+ "HP:0011354",
"UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
"UPHENO:0004827",
- "MPATH:603",
+ "UPHENO:0002634",
+ "UBERON:0004535",
+ "UBERON:0000948",
+ "UPHENO:9002003",
"UPHENO:0003086",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
"HP:0004377",
- "MPATH:119",
- "UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
"UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
"UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
+ "HP:0012759",
+ "UPHENO:0080079",
"UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
"UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
+ "CL:0000558",
+ "HP:0000152",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
"UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002269",
"UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
"UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "UBERON:0000479",
+ "HP:0002011",
+ "UPHENO:0075220",
"UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "HP:0003251",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UBERON:0012141",
"UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0001893",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
"UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
+ "UPHENO:0049775",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
"UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
"UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "HP:0003251",
- "GO:0008150",
- "UPHENO:0002378",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
"UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
"UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
"UPHENO:0004757",
- "UPHENO:0080352",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
"UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
"UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
+ "UPHENO:0046741",
"UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UPHENO:0025545",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UPHENO:0025135",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:0011533",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "UPHENO:0025546",
- "UPHENO:0025509",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UBERON:0008785",
- "GO:0006139",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "HP:0002011",
- "UPHENO:0011492",
- "UPHENO:0025808",
- "HP:0006503",
- "UPHENO:0002782",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0001003",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
"UPHENO:0026239",
- "UPHENO:0003055",
- "UBERON:0002113",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0002642",
- "UBERON:0005451",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0076703",
"UBERON:0001444",
- "UBERON:0005177",
- "HP:0001911",
- "UPHENO:0027017",
- "UBERON:0002204",
- "UBERON:0000465",
- "HP:0009115",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "UPHENO:0008593",
- "UBERON:0012475",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UPHENO:0026486",
- "UPHENO:0026600",
- "UBERON:0005173",
- "UBERON:0004381",
- "UBERON:0013701",
- "UBERON:0015061",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0027014",
- "UPHENO:0074575",
- "HP:0011842",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0087427",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UBERON:0011143",
- "UPHENO:0009011",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "HP:0003953",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "UPHENO:0025187",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
"HP:0001155",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025661",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0001001",
- "UPHENO:0026507",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UPHENO:0008827",
- "UBERON:0010740",
- "UPHENO:0002750",
- "CL:0000457",
- "UPHENO:0008825",
- "UBERON:5102544",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UPHENO:0002378",
"UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UBERON:0012354",
+ "UPHENO:0026600",
"UPHENO:0026010",
- "UBERON:0010708",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UBERON:0015212",
- "HP:0000078",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "UBERON:0002097",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002926",
- "UPHENO:0009163",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
"HP:0000980",
- "UPHENO:0026309",
- "UPHENO:0026146",
- "UPHENO:0026504",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "HP:0001875",
- "UBERON:0001423",
- "UBERON:0011216",
- "UBERON:0003466",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0026095",
- "HP:0000104",
- "UBERON:0007272",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UPHENO:0009341",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0085302",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
"CL:0000329",
- "HP:0000001",
- "UBERON:0002193",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UBERON:0001434",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0011572",
- "CL:0000255",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0077391",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "UPHENO:0079876",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "HP:0025354",
+ "UPHENO:0012312",
"HP:0011844",
- "UPHENO:0009356",
- "HP:0020047",
- "UBERON:0000467",
- "UBERON:0007100",
- "UBERON:0000468",
- "GO:0050954",
- "UPHENO:0002816",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UBERON:0010741",
- "UPHENO:0025508",
- "HP:0000144",
- "UPHENO:3000004",
- "HP:0009601",
- "GO:0043170",
- "CL:0000219",
- "HP:0000815",
- "UPHENO:0063794",
- "UPHENO:0077399",
- "HP:0000028",
- "UBERON:0005172",
- "UBERON:0015203",
- "UBERON:0000475",
- "HP:0001627",
- "UBERON:0002371",
- "UPHENO:0011498",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002403",
- "UBERON:0003135",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0003094",
- "UBERON:0010000",
- "UPHENO:0002803",
- "UBERON:0001474",
- "CL:0000232",
- "UBERON:0002075",
- "UPHENO:0002738",
- "HP:0100887",
- "CL:0002242",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UBERON:5002389",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0086700",
- "UPHENO:0009366",
- "UBERON:0002389",
- "UPHENO:0002536",
- "UPHENO:0025211",
- "UPHENO:0025811",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0086019",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0012308",
- "CL:0000988",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0000015",
- "CL:0000094",
- "HP:0003213",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0009382",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "GO:0040007",
- "BFO:0000001",
- "UPHENO:0077348",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0031049",
- "HP:0009822",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UPHENO:0026980",
- "UBERON:0015204",
- "UBERON:0000061",
- "UPHENO:0081511",
- "PATO:0000001",
- "HP:0000978",
- "UPHENO:0008865",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0086176",
- "HP:0001874",
- "UPHENO:0076805",
- "UPHENO:0025883",
- "CL:0000775",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0002948",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "HP:0001896",
- "HP:0009823",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0077418",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0026308",
- "UBERON:0000479",
- "HP:0011314",
- "HP:0004323",
- "HP:0032251",
- "HP:0001017",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0002568",
- "UPHENO:0053601",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
"UBERON:0002398",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UBERON:0002513",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
"UBERON:0001015",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0000924",
- "UPHENO:0009344",
- "HP:0033127",
- "HP:0000240",
- "UPHENO:0005058",
- "UBERON:0004176",
- "HP:0000951",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
"UPHENO:0005025",
- "UPHENO:0086016",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0004064",
- "UBERON:0000062",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
"HP:0000035",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0088162",
- "UPHENO:0008545",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0015024",
- "UPHENO:0053559",
- "HP:0001871",
+ "HP:0007364",
+ "HP:0009380",
+ "UBERON:0000061",
"HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "UPHENO:0052231",
+ "CL:0000233",
+ "UBERON:0000075",
+ "CL:0001035",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UBERON:0002199",
+ "UBERON:0001423",
+ "UPHENO:0049757",
"CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0088170",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0010935",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "UPHENO:0002526",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
+ "HP:0005561",
+ "UBERON:0001062",
+ "UPHENO:0002685",
"UBERON:0004765",
- "RO:0002577",
"UBERON:0010712",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "HP:0002817",
- "HP:0001872",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UBERON:0003101",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
+ "UPHENO:0003050",
+ "UBERON:0015001",
"UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0008604",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "UPHENO:0002751",
- "CL:0000233",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002945",
+ "UPHENO:0076799",
"UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
"UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "HP:0000118",
"UBERON:0002529",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
"UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
"UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0084448",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "HP:0011873",
- "UPHENO:0053572",
- "UPHENO:0008816",
- "CL:0000225",
- "UPHENO:0026808",
- "HP:0001876",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "GO:0003008",
- "HP:0025461",
- "UPHENO:0025855",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
"HP:0002818",
- "HP:0011875",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0086173",
- "UBERON:0000079",
- "HP:0001873",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
+ "RO:0002577",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "HP:0012041",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UBERON:0002113",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
"HP:0009778",
- "CL:0000151",
- "UPHENO:0053647",
- "UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002940",
- "UPHENO:0003056",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "UPHENO:0053580",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
"UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0002685",
- "HP:0000811",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0002523",
- "HP:0012243",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0041821",
- "HP:0000032",
- "UBERON:0019231",
- "UBERON:0006048",
+ "UPHENO:0002750",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UBERON:0010912",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "HP:0001903",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0000473",
+ "UPHENO:0079872",
"UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "UPHENO:0009129",
- "CL:0000763",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
+ "UPHENO:0004507",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
"UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0009391",
- "UBERON:0002417",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668",
- ],
- "has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
+ "UBERON:0000481",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "MPATH:603",
+ "UPHENO:0025845",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0011582",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "HP:0000978",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0000543",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "HP:0009943",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
+ "HP:0032251",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "HP:0012210",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003811",
+ "UPHENO:0086176",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0080377",
+ "UPHENO:0085371",
+ "HP:0011893",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002632",
+ "UPHENO:0004064",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0003227",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0004710",
+ "UPHENO:0075944",
+ "HP:0001871",
+ "UPHENO:0025211",
+ "UPHENO:0077391",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0010708",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0063722",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0002526",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "CL:0000255",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0086633",
+ "UPHENO:0025585",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0009129",
+ "UPHENO:0011498",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "CL:0000094",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UBERON:0002193",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "UPHENO:0009163",
+ "HP:0009115",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "UBERON:0011216",
+ "MPATH:105",
+ "CL:0000988",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0010987",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0011531",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0026507",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0076692",
+ "UPHENO:0025497",
+ "UBERON:0000467",
+ "HP:0001881",
+ ],
+ "has_phenotype_closure_label": [
+ "Infertility",
+ "Decreased fertility in males",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
"cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
"decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Hearing abnormality",
"Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
"decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
"Abnormal eye physiology",
"structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
"Growth delay",
- "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
"decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
+ "localised trunk region element",
"localised cavitated compound organ",
"localised lateral structure",
+ "Ectopic kidney",
"localised compound organ",
- "Male infertility",
- "Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
"U-shaped anatomical entity",
"3-D shape anatomical entity",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
+ "Abnormal localization of kidney",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
"decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
"Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
"Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
+ "Localized skin lesion",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
"Cafe-au-lait spot",
"Hypermelanotic macule",
- "Hyperpigmentation of the skin",
- "increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Anemia",
+ "material anatomical entity",
+ "superficial fascia",
+ "Abnormality of the eye",
"pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "biological_process rate phenotype",
"primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "heart",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "multicellular organism phenotype",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
+ "biological_process phenotype",
"autopod bone",
- "manual digit 1 digitopodial skeleton",
+ "acropodial skeleton",
"manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
+ "Duplication of bones involving the upper extremities",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
"phalanx of manus",
- "phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
"cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
+ "decreased functionality of the gonad",
"Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
"forebrain",
- "telencephalon",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
"Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
"central nervous system",
- "axial skeleton plus cranial skeleton",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
"postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
+ "cranial skeletal system",
"Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
"negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
"negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
"process",
+ "skin of body morphology phenotype",
"Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "growth phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
"decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
+ "anatomical structure physiology phenotype",
"orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
"craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
"Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
"absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
- "nervous system phenotype",
- "limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
- "decreased size of the anatomical entity in the pectoral complex",
- "myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
"subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "lateral structure phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
+ "reproductive organ phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
"digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
"decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
"Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
"negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
"segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
- "decreased number of anatomical entity",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
"absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
"digit 1 or 5 phenotype",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
"decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
"Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
+ "biological_process",
"Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "Abnormal reproductive system morphology",
"Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
- "number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "localised multicellular anatomical structure",
+ "aplasia or hypoplasia of radius bone",
+ "vasculature phenotype",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cardiovascular system",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
"Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
+ "erythrocyte",
+ "absent bone of pectoral complex in the limb",
+ "tissue",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
"skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
+ "pectoral complex",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
"absent multicellular anatomical structure in the limb",
+ "delayed biological_process",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
"musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
"absent bone of appendage girdle complex",
- "oxygen accumulating cell",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "musculoskeletal system phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
"number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
"paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
+ "radius endochondral element",
+ "circulatory system phenotype",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
"bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
"absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
"forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
"anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
"decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
"non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
"appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
"long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "multicellular organism mass phenotype",
+ "endochondral element",
"skeleton phenotype",
+ "material entity",
"anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent mesoderm-derived structure in the multicellular organism",
- "anucleate cell",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "Male infertility",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "lateral structure phenotype",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
"pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "Abnormality of head or neck",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
+ "number of cell phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "Duplication of thumb phalanx",
+ "Short thumb",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
+ "forelimb long bone",
+ "thoracic cavity element",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
+ "Abnormal leukocyte count",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "cardiovascular system morphology phenotype",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
"localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "absent lateral structure",
+ "cellular organisms",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
+ "compound organ",
+ "Eukaryota",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
"Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "excretory system",
+ "renal system morphology phenotype",
+ "eye phenotype",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
+ "upper limb segment phenotype",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "heart plus pericardium",
+ "absent anatomical entity",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "circulatory organ phenotype",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "skin of body phenotype",
+ "absent abdominal segment element in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal skin morphology",
+ "regional part of nervous system",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "integumental system phenotype",
+ "limb phenotype",
+ "circulatory disorder",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "immune system",
+ "decreased number of leukocyte",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "arm bone",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "root",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "Renal hypoplasia/aplasia",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Pallor",
+ "continuant",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organ phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "paired limb/fin segment",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "abdominal segment of trunk",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "entity",
+ "decreased number of anatomical entity",
+ "abdomen element phenotype",
+ "mesoderm-derived structure",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "Abnormal neutrophil count",
+ "Decreased fertility",
+ "anatomical entity",
+ "absent autopodial extension",
+ "integumental system",
+ "regulation of biological process",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "renal system",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "granulocyte morphology phenotype",
+ "Abnormality of the genitourinary system",
+ "paired limb/fin skeleton phenotype",
+ "regulation of gene expression",
+ "Generalized abnormality of skin",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "neutrophil phenotype",
+ "Cryptorchidism",
+ "nervous system physiology phenotype",
+ "vascular system",
+ "nucleate cell",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormal bleeding",
+ "cell",
+ "appendicular skeletal system",
+ "anatomical system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
],
"has_phenotype_count": 34,
"highlight": None,
@@ -2098,21 +2073,17 @@ def autocomplete():
"HP:0001510",
"HP:0001511",
"HP:0009777",
- "HP:0000568",
"HP:0009892",
"HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
"HP:0011968",
"HP:0001321",
- "HP:0000431",
"HP:0000175",
"HP:0000054",
"HP:0002575",
- "HP:0005528",
"HP:0000238",
"HP:0000437",
"HP:0000316",
@@ -2121,10 +2092,14 @@ def autocomplete():
"HP:0001903",
"HP:0000957",
"HP:0000122",
- "HP:0000089",
"HP:0002023",
"HP:0002188",
"HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
+ "HP:0000089",
],
"has_phenotype_label": [
"Bilateral talipes equinovarus",
@@ -2136,21 +2111,17 @@ def autocomplete():
"Growth delay",
"Intrauterine growth retardation",
"Absent thumb",
- "Microphthalmia",
"Anotia",
"Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
"Feeding difficulties",
"Cerebellar hypoplasia",
- "Wide nasal bridge",
"Cleft palate",
"Micropenis",
"Tracheoesophageal fistula",
- "Bone marrow hypocellularity",
"Hydrocephalus",
"Depressed nasal tip",
"Hypertelorism",
@@ -2159,15363 +2130,14982 @@ def autocomplete():
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
- "Renal hypoplasia",
"Anal atresia",
"Delayed CNS myelination",
"Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
+ "Renal hypoplasia",
],
"has_phenotype_closure": [
- "UBERON:0035639",
- "HP:0000582",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
"HP:0030669",
- "UBERON:0001711",
- "UBERON:0034921",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
"HP:0008050",
- "UPHENO:0002643",
- "UPHENO:0003085",
- "GO:0007399",
- "GO:0032291",
- "GO:0042552",
- "GO:0022008",
- "GO:0021782",
- "GO:0008366",
- "GO:0048468",
- "UPHENO:0050734",
- "GO:0048731",
- "UPHENO:0000554",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
+ "GO:0007272",
+ "UPHENO:0000553",
+ "UPHENO:0050121",
+ "GO:0022010",
"UPHENO:0000555",
- "GO:0048709",
- "GO:0042063",
- "GO:0014003",
- "UPHENO:0051450",
- "UPHENO:0050406",
- "UPHENO:0000558",
"HP:0002188",
- "GO:0009987",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
"UPHENO:0050379",
- "GO:0007272",
- "GO:0048869",
- "UPHENO:0000552",
- "UPHENO:0050121",
- "UPHENO:0063596",
"UBERON:0000161",
- "UPHENO:0086644",
- "HP:0004378",
- "UPHENO:0074227",
- "UPHENO:0063581",
+ "UPHENO:0063596",
"HP:0034915",
- "HP:0002023",
- "UBERON:0001245",
- "HP:0000089",
- "UBERON:0011143",
- "UPHENO:0076779",
- "HP:0000079",
- "UPHENO:0011770",
- "UPHENO:0026600",
- "UPHENO:0011931",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
"HP:0008678",
- "UPHENO:0087427",
- "HP:0012447",
- "UPHENO:0026308",
- "UPHENO:0026980",
- "HP:0000104",
- "HP:0032039",
- "UBERON:0000489",
+ "UBERON:0001008",
+ "UPHENO:0009011",
"UPHENO:0011559",
"UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
"UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
"HP:0000077",
"UPHENO:0002803",
- "UPHENO:0008827",
- "UPHENO:0000553",
- "UBERON:0000916",
+ "UPHENO:3000004",
"UBERON:8450002",
- "UPHENO:0003094",
+ "UBERON:0011143",
+ "UPHENO:0075902",
"UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0009129",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "HP:0001034",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
"UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000492",
- "UPHENO:0002812",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
"HP:0000953",
- "UPHENO:0076739",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
"UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "HP:0001000",
- "HP:0005927",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0008736",
- "CL:0000763",
- "UBERON:0001442",
- "UBERON:0012140",
- "UBERON:0002544",
- "HP:0012733",
- "UBERON:0006048",
- "HP:0011400",
- "UPHENO:0009382",
- "UPHENO:0052778",
- "HP:0000238",
- "UPHENO:0005647",
- "UPHENO:0004476",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UBERON:0001691",
- "UBERON:0012139",
- "UPHENO:0002585",
- "HP:0001510",
- "UPHENO:0049775",
- "UPHENO:0011825",
- "UPHENO:0052855",
- "UPHENO:0002269",
- "UBERON:0008340",
- "UPHENO:0086700",
- "UPHENO:0002385",
- "UBERON:0010363",
- "HP:0000568",
- "GO:0009790",
- "UPHENO:0004956",
- "UPHENO:0005433",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
"UPHENO:3000007",
- "UPHENO:0002934",
- "NBO:0000604",
- "HP:0000707",
- "UPHENO:0025666",
- "HP:0025766",
- "GO:0008150",
- "UBERON:5002389",
- "HP:0000708",
- "HP:0000752",
- "HP:0012639",
- "HP:0025461",
- "HP:0025732",
- "UPHENO:0002648",
- "HP:0007018",
- "UBERON:0002028",
- "GO:0050877",
- "UBERON:0011138",
- "UPHENO:0081320",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "HP:0000465",
- "UBERON:0004921",
- "UPHENO:0002828",
- "UPHENO:0003074",
- "UPHENO:0050063",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0025497",
- "HP:0002973",
- "UPHENO:0025961",
- "UPHENO:0002983",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
"UPHENO:0001570",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0026073",
- "GO:0031323",
- "UPHENO:0025547",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0080281",
- "UPHENO:0076800",
- "UPHENO:0002751",
- "UPHENO:0076720",
- "HP:0009825",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0002880",
- "UPHENO:0002969",
- "HP:0002715",
- "BFO:0000003",
- "UPHENO:0008430",
- "UBERON:0005881",
- "UPHENO:0080171",
- "UPHENO:0076718",
- "UPHENO:0076786",
- "UPHENO:0025136",
- "UPHENO:0003514",
- "HP:0000152",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "HP:0025780",
- "UBERON:0000978",
- "HP:0002817",
- "HP:0008551",
- "UPHENO:0002905",
- "UPHENO:0008475",
- "UPHENO:0009399",
- "UPHENO:0053456",
- "UPHENO:0069236",
- "GO:0030154",
- "UBERON:0008962",
- "UPHENO:0011817",
- "UBERON:0015001",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "HP:0001574",
- "UPHENO:0002267",
- "UPHENO:0081784",
- "UBERON:0003606",
- "UPHENO:0081451",
- "UPHENO:0003227",
- "UPHENO:0056333",
- "UPHENO:3000004",
- "UPHENO:0026312",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
+ "UPHENO:0002754",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
"UBERON:0000167",
- "UPHENO:0002632",
- "HP:0011297",
- "UPHENO:0052178",
- "HP:0000812",
- "UBERON:0010712",
- "UBERON:0011249",
- "UBERON:0001440",
- "UPHENO:0054970",
- "UPHENO:0025845",
- "UBERON:0034925",
- "UPHENO:0002659",
- "GO:0050789",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0001008",
- "HP:0010460",
- "UBERON:0002428",
- "UPHENO:0025587",
- "UPHENO:0004523",
- "UPHENO:0080158",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
"UBERON:0001716",
- "UPHENO:0002719",
- "UPHENO:0002870",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
+ "UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
"UPHENO:0087349",
- "UPHENO:0025661",
- "HP:0001511",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
"GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0025507",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0002546",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0001584",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0014240",
- "UBERON:0015061",
- "UBERON:0001558",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UPHENO:0026628",
- "UBERON:0003975",
- "HP:0040070",
- "UPHENO:0009337",
- "UPHENO:0002600",
- "UPHENO:0008865",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "UPHENO:0009341",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UBERON:0002413",
- "HP:0012252",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0026506",
- "GO:0048856",
- "UBERON:0004708",
- "UPHENO:0009366",
- "UPHENO:0011749",
- "UPHENO:0025509",
- "UPHENO:0079872",
- "UPHENO:0076727",
- "UPHENO:0026344",
- "HP:0005922",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UPHENO:0004459",
- "UBERON:0007914",
- "UPHENO:0026082",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
"UBERON:0000474",
- "HP:0000277",
- "UBERON:0010708",
- "UBERON:0002091",
- "UBERON:0000026",
- "HP:0005561",
- "UPHENO:0075877",
- "UPHENO:0025852",
- "UPHENO:0041080",
- "UPHENO:0079876",
- "UPHENO:0025808",
- "UPHENO:0005029",
- "HP:0008684",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "PATO:0000001",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0080087",
- "UPHENO:0087806",
- "UPHENO:0002901",
- "UPHENO:0004418",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0003082",
- "UPHENO:0033572",
- "UBERON:0004111",
- "UPHENO:0087006",
- "UBERON:0001032",
- "UBERON:0003134",
- "UPHENO:0002818",
- "HP:0006496",
- "HP:0000925",
- "HP:0011844",
- "HP:0000357",
- "UBERON:0010364",
- "UPHENO:0008825",
- "UPHENO:0087278",
- "HP:5201015",
- "UPHENO:0018414",
- "HP:0008518",
- "UPHENO:0005170",
- "UPHENO:0002785",
- "UPHENO:0026146",
- "UPHENO:0075998",
- "UBERON:0013701",
- "UBERON:0011676",
- "HP:0000130",
- "HP:0005105",
- "UPHENO:0002868",
- "UPHENO:0001072",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
"UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0002948",
- "UBERON:0000475",
- "UPHENO:0081099",
- "HP:0003953",
- "UPHENO:0014320",
- "UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0005008",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0063580",
- "UBERON:0000020",
- "UPHENO:0087433",
- "UPHENO:0002763",
- "HP:0000118",
- "UBERON:0001690",
- "UPHENO:0002838",
- "HP:0000377",
- "UBERON:0010314",
- "UPHENO:0011557",
- "UPHENO:0011492",
- "HP:0002011",
- "HP:0030791",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UBERON:0000974",
- "UPHENO:0002750",
- "UPHENO:0025187",
- "UPHENO:0076752",
- "UPHENO:0025135",
- "UPHENO:0081783",
- "UPHENO:0014971",
- "UBERON:0003690",
- "HP:0000369",
- "HP:0006501",
- "UPHENO:0050034",
- "UPHENO:0011498",
- "UPHENO:0011538",
- "BFO:0000020",
- "UPHENO:0004595",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
"UBERON:0002101",
- "HP:0040072",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0009305",
- "UPHENO:0008640",
- "UBERON:0000033",
- "HP:0003974",
- "UPHENO:0009181",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "HP:0000122",
- "HP:0000929",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0079826",
- "UBERON:0008001",
- "UPHENO:0002650",
- "UPHENO:0004909",
- "UPHENO:0005022",
- "UBERON:0005181",
- "UPHENO:0002531",
- "UBERON:0000467",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "HP:0002977",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "NBO:0000011",
- "UPHENO:0026630",
- "UPHENO:0076754",
"UBERON:0004122",
- "HP:0034261",
- "UPHENO:0086932",
- "UPHENO:0080382",
- "GO:0050794",
- "UBERON:0001444",
- "HP:0005656",
- "UBERON:0005177",
- "UPHENO:0002987",
- "UBERON:0004765",
- "UPHENO:0006147",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0019231",
- "UPHENO:0081575",
- "UBERON:0003466",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0009344",
- "UPHENO:0003411",
- "HP:0001172",
- "UPHENO:0011572",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0011158",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UBERON:0011159",
- "BFO:0000001",
- "UBERON:0002398",
- "UPHENO:0002568",
- "HP:0002692",
- "UPHENO:0000556",
- "UPHENO:0002731",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
"UBERON:0003828",
- "UPHENO:0056237",
- "HP:0002814",
- "UPHENO:0068971",
- "HP:0000736",
- "UBERON:0000004",
- "UPHENO:0002942",
- "UBERON:0003457",
- "UPHENO:0001001",
- "UBERON:0002090",
- "UBERON:0003113",
- "UPHENO:0063579",
- "UPHENO:0026486",
- "UPHENO:0005424",
- "UBERON:0010538",
- "UPHENO:0002971",
- "GO:0007417",
- "NBO:0000308",
- "UBERON:0007196",
- "UPHENO:0002772",
- "UPHENO:0026808",
- "UBERON:0002199",
- "UPHENO:0002761",
- "UBERON:0008785",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
"UPHENO:0080196",
- "UPHENO:0003460",
- "UPHENO:0086172",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
"HP:0000001",
- "CL:0000329",
- "UPHENO:0008743",
- "UPHENO:0003020",
- "UPHENO:0002593",
- "RO:0002577",
- "UBERON:0010709",
- "UBERON:0005174",
- "UPHENO:0004494",
- "UPHENO:0025739",
- "UPHENO:0025811",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
"UPHENO:0026984",
- "UBERON:0000153",
- "UBERON:0002102",
- "UPHENO:0000543",
+ "UPHENO:0002715",
+ "UBERON:0004247",
"HP:0009380",
- "UPHENO:0002536",
- "UPHENO:0086595",
- "UPHENO:0081786",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "HP:0006503",
- "UPHENO:0026227",
- "UPHENO:0002782",
- "HP:0001760",
- "UPHENO:0002976",
- "UPHENO:0041203",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "HP:0001507",
- "UPHENO:0063565",
- "UPHENO:0086589",
- "BFO:0000040",
- "UBERON:0000072",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "HP:0002813",
- "HP:0010938",
- "UPHENO:0025776",
- "BFO:0000015",
- "UPHENO:0087907",
- "HP:0000163",
- "UPHENO:0049622",
- "UBERON:0002495",
- "UPHENO:0008523",
- "HP:0005607",
- "UPHENO:0069266",
- "UPHENO:0002736",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0025243",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "HP:0009121",
- "UPHENO:0026507",
- "UPHENO:0025553",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UBERON:0010313",
- "UPHENO:0074245",
- "UPHENO:0002957",
- "HP:0009822",
- "GO:0031049",
- "GO:0032502",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
+ "UPHENO:0075948",
"UPHENO:0002833",
- "UPHENO:0063559",
- "UPHENO:0041226",
- "UPHENO:0081210",
- "UPHENO:0080325",
- "HP:0000734",
- "HP:0007400",
- "UBERON:0000154",
- "UPHENO:0088186",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UBERON:0011584",
- "UPHENO:0003095",
- "HP:0011842",
- "UPHENO:0008668",
- "UPHENO:0025817",
- "HP:0100543",
- "UPHENO:0002550",
- "UPHENO:0080187",
- "UPHENO:0009011",
- "NCBITaxon:33208",
- "UPHENO:0008487",
- "HP:0009118",
- "UPHENO:0008593",
- "UBERON:0004710",
- "UPHENO:0002732",
- "UPHENO:0003412",
- "BFO:0000004",
- "UBERON:0000075",
- "UPHENO:0009209",
- "UBERON:0003462",
- "UPHENO:0080165",
- "UPHENO:0009163",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
"HP:0002795",
- "UPHENO:0002926",
- "UPHENO:0026010",
- "UPHENO:0002725",
- "HP:0100887",
- "UPHENO:0080300",
- "UPHENO:0084763",
- "UPHENO:0002963",
- "HP:0001883",
- "UBERON:0002100",
- "UPHENO:0005986",
- "UPHENO:0075890",
- "HP:0000356",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0015203",
- "UBERON:0002514",
- "UBERON:0000019",
- "CL:0002092",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UBERON:0004120",
- "UPHENO:0025166",
- "UPHENO:0087472",
- "HP:0000598",
- "HP:0012448",
- "UPHENO:0004173",
- "GO:0010001",
- "NBO:0000455",
- "UPHENO:0003413",
- "UPHENO:0050372",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0003070",
- "UBERON:0003463",
- "HP:0000234",
- "UBERON:0007272",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
"UPHENO:0080099",
- "UPHENO:0087510",
- "UBERON:0001684",
- "UBERON:0002105",
- "UPHENO:0002928",
- "HP:0011821",
- "HP:0010935",
- "UPHENO:0041041",
- "UPHENO:0005092",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0063639",
- "HP:0009116",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0042592",
- "UPHENO:0081141",
- "HP:0009122",
- "UBERON:0007811",
- "UBERON:0012360",
- "UBERON:0005451",
- "UBERON:0001555",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
"HP:0025668",
- "UPHENO:0084457",
- "UBERON:0006717",
- "UPHENO:0002910",
- "UBERON:0000165",
- "UPHENO:0080110",
- "HP:0025031",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
"UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0050106",
- "UPHENO:0082875",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0011533",
- "NBO:0000607",
- "UPHENO:0026074",
- "GO:0060255",
- "UPHENO:0026095",
- "UBERON:0000064",
- "UBERON:0000117",
- "GO:0031326",
- "UPHENO:0080010",
- "UBERON:0001270",
- "UPHENO:0063558",
- "UBERON:0011137",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
"UBERON:0001463",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "HP:0001263",
- "HP:0000036",
- "UPHENO:0002746",
- "UPHENO:0026514",
- "UPHENO:0003029",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0011563",
- "HP:0009823",
- "UPHENO:0002994",
- "UPHENO:0081091",
- "UPHENO:3000000",
- "UBERON:0001456",
- "HP:0012433",
- "UBERON:0002355",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0076703",
- "UPHENO:0002988",
- "HP:0031816",
- "UPHENO:0003811",
- "UPHENO:0081788",
- "HP:0040064",
- "UPHENO:0003004",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
"UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0074231",
- "UPHENO:0004704",
- "UPHENO:0002694",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0009295",
- "UPHENO:0005230",
- "UPHENO:0002721",
- "UPHENO:0081566",
- "HP:5200263",
- "UBERON:0004709",
- "UPHENO:0027017",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002927",
- "UBERON:0011156",
- "HP:0002031",
- "HP:0000347",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002559",
- "GO:0007610",
- "UPHENO:0026098",
- "UPHENO:0088168",
- "UBERON:0000062",
- "HP:0033127",
- "UBERON:0007842",
- "HP:0000119",
- "HP:0011446",
- "UPHENO:0088116",
- "HP:0009892",
- "BFO:0000141",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0002896",
- "UBERON:0001043",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UPHENO:0008709",
- "HP:0012638",
- "UPHENO:0026239",
- "GO:0050890",
- "UPHENO:0086633",
- "HP:0001762",
- "UBERON:5006048",
- "UBERON:0012477",
- "HP:0000437",
"UPHENO:0009146",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0008548",
- "HP:0009777",
- "UBERON:0005156",
- "UBERON:0004456",
- "UPHENO:0005058",
- "UPHENO:0025215",
- "UPHENO:0063599",
- "UBERON:0004176",
- "UPHENO:0063577",
- "UBERON:0005172",
- "UBERON:0005358",
- "HP:0000951",
- "UPHENO:0004788",
- "HP:0000315",
- "UPHENO:0076785",
- "UBERON:0004923",
- "UBERON:0006800",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0068914",
- "UPHENO:0004757",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UPHENO:0069161",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
+ "CL:0000000",
"UBERON:0003278",
- "UBERON:0004088",
- "UPHENO:0018426",
- "HP:0011282",
- "UBERON:0000970",
- "UPHENO:0080209",
- "HP:0008056",
- "HP:0012372",
- "UBERON:0015007",
- "HP:0001317",
- "HP:0000478",
- "UBERON:0005179",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
+ "UPHENO:0008548",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
"UPHENO:0005573",
- "HP:0010461",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
"UPHENO:0003410",
- "UBERON:0000047",
- "UPHENO:0056149",
- "UPHENO:0069064",
- "GO:0010468",
- "UPHENO:0069523",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "UPHENO:0081095",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "UPHENO:0008545",
- "UPHENO:0050068",
- "UPHENO:0025777",
- "HP:0008771",
- "UPHENO:0002532",
- "UPHENO:0025570",
- "UPHENO:0080111",
- "UBERON:0001015",
- "UPHENO:0025234",
- "UBERON:0003100",
- "UPHENO:0074232",
- "UPHENO:0025855",
- "HP:0008772",
- "UPHENO:0025708",
- "HP:0000464",
- "UPHENO:0026706",
- "UPHENO:0005104",
- "UPHENO:0081585",
- "UPHENO:0026023",
- "UPHENO:0026280",
- "UPHENO:0003101",
- "UPHENO:0025882",
- "UBERON:0012128",
- "HP:0004590",
+ "HP:5200263",
+ "HP:0000202",
+ "UPHENO:0002910",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
+ "GO:0008150",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
+ "HP:0025031",
"HP:5200241",
- "UPHENO:0008604",
- "UBERON:0006075",
- "UBERON:0005473",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002813",
- "HP:0000422",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UPHENO:0003027",
- "UPHENO:0003092",
- "UBERON:0004908",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
"UPHENO:0005106",
- "UPHENO:0003038",
- "UBERON:0005173",
- "UPHENO:0075804",
- "UBERON:0006077",
- "UPHENO:0003093",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0063563",
- "UPHENO:0041458",
- "UBERON:0009569",
- "UPHENO:0003812",
- "UPHENO:0011739",
- "UBERON:0004247",
- "UBERON:0000025",
- "UPHENO:0081328",
- "HP:0011017",
- "UPHENO:0002616",
- "UPHENO:0025955",
+ "HP:0000130",
+ "UPHENO:0081511",
"UPHENO:0002755",
- "UPHENO:0003002",
- "HP:0008517",
- "UPHENO:0075902",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0002654",
- "UPHENO:0076761",
- "HP:0005107",
- "UPHENO:0074237",
- "HP:0000008",
- "HP:0011968",
- "UPHENO:0087974",
- "UBERON:0000993",
- "UPHENO:0056250",
- "UBERON:0003133",
- "BFO:0000002",
- "UBERON:0004089",
- "UPHENO:0025631",
- "UPHENO:0009391",
- "UPHENO:0002448",
- "HP:0000151",
- "UBERON:0000464",
- "UBERON:0000990",
- "UPHENO:0027020",
- "UBERON:0008907",
- "UPHENO:0001304",
- "UBERON:0005944",
- "UBERON:0000995",
- "UPHENO:0049743",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
"UBERON:0004175",
- "UBERON:0005409",
- "UPHENO:0003952",
- "UBERON:0003103",
- "UPHENO:0087547",
- "GO:0022010",
- "HP:0000309",
- "UPHENO:0076766",
- "UPHENO:0026152",
- "UPHENO:0011847",
- "UPHENO:0074229",
- "UPHENO:0003053",
- "UPHENO:0009115",
+ "UBERON:0001440",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
"UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
"UPHENO:0025195",
- "UPHENO:0002977",
- "UPHENO:0008850",
- "UPHENO:0009031",
- "UPHENO:0025401",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0026529",
- "GO:0048523",
- "UPHENO:0011485",
- "UPHENO:0002646",
- "UPHENO:0009396",
- "UPHENO:0002598",
- "UPHENO:0056226",
- "UPHENO:0026407",
- "UPHENO:0027008",
- "UPHENO:0026014",
- "UPHENO:0002642",
- "UBERON:0001017",
- "UPHENO:0025875",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
+ "UPHENO:0027017",
+ "NCBITaxon:2759",
"UBERON:0004756",
- "UPHENO:0004709",
- "UPHENO:0002523",
- "HP:0012243",
- "UPHENO:0002687",
- "UPHENO:0002955",
- "UPHENO:0026509",
- "UBERON:0005434",
- "UPHENO:0033599",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046571",
- "HP:0000470",
- "CL:0000988",
- "UPHENO:0074360",
- "UBERON:0003129",
- "HP:0003319",
- "UPHENO:0063586",
- "UBERON:0008811",
- "UPHENO:0087563",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UBERON:0010913",
- "UPHENO:0002674",
- "UPHENO:0002769",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UBERON:0002412",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0001025",
- "UPHENO:0046483",
- "HP:0012759",
- "HP:0200006",
- "HP:0012758",
- "HP:0025354",
- "CL:0000000",
- "UPHENO:0074310",
- "HP:0000316",
- "UPHENO:0050778",
- "HP:0000153",
- "UPHENO:0002907",
- "GO:0008152",
- "UPHENO:0076740",
- "GO:0065007",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
+ "UBERON:0005409",
"UPHENO:0005642",
- "UPHENO:0025176",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
"UPHENO:0011548",
- "GO:0031327",
- "UPHENO:0076760",
- "GO:0010558",
- "HP:0001939",
- "UBERON:0000989",
- "GO:0043473",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0025883",
- "HP:0000431",
- "UPHENO:0050065",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "GO:0010556",
- "UPHENO:0049642",
- "HP:0040012",
- "UBERON:0002416",
- "NBO:0000313",
- "GO:0048519",
- "GO:0019222",
- "UPHENO:0050784",
- "HP:0003221",
- "UPHENO:0004536",
- "UPHENO:0078606",
- "HP:0012760",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0026940",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0050126",
- "UPHENO:0074230",
- "GO:0009889",
- "HP:0000366",
- "UPHENO:0074329",
- "UPHENO:0074228",
- "UBERON:0002405",
- "HP:0002032",
- "UBERON:0000915",
- "UPHENO:0002830",
- "UPHENO:0063575",
- "HP:0002589",
- "UPHENO:0074335",
- "UPHENO:0081511",
- "UPHENO:0003086",
- "HP:0011024",
- "UPHENO:0063574",
- "UPHENO:0004486",
- "UBERON:0010323",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0075655",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "BFO:0000002",
+ "UPHENO:0063563",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
"UPHENO:0063603",
+ "UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
+ "UPHENO:0003460",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0007811",
"HP:0045060",
- "UPHENO:0063576",
- "GO:0032501",
- "UPHENO:0074330",
- "HP:0011458",
- "HP:0025032",
- "UPHENO:0002443",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0031703",
- "HP:0000050",
- "UPHENO:0025585",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0002575",
- "UPHENO:0049620",
- "UBERON:0001895",
- "HP:5200044",
- "UPHENO:0004802",
- "UBERON:0013702",
- "UPHENO:0006173",
- "NCBITaxon:1",
- "UPHENO:0076791",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
"HP:0100886",
- "UBERON:0001710",
- "UPHENO:0081601",
- "UPHENO:0003459",
- "UPHENO:0069327",
- "UPHENO:0002715",
- "UPHENO:0004521",
- "UPHENO:0081581",
- "UBERON:0001423",
"UPHENO:0002964",
- "UBERON:0000481",
- "UBERON:0004733",
- "UBERON:0002616",
- "UBERON:0013515",
- "UPHENO:0072264",
- "UPHENO:0018390",
- "UBERON:0000955",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0056242",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
"UPHENO:0080089",
- "UPHENO:0075948",
- "UPHENO:0076702",
- "HP:0012443",
- "HP:0007360",
- "UBERON:0002104",
- "UPHENO:0056230",
- "UPHENO:0003069",
- "UPHENO:0008689",
- "HP:0011283",
- "NCBITaxon:2759",
- "UPHENO:0003936",
- "UBERON:0000073",
- "UPHENO:0002433",
- "UPHENO:0002722",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "UPHENO:0087585",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
+ "UBERON:0000026",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
+ "UPHENO:0002586",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
"UPHENO:0002685",
- "UPHENO:0001134",
- "GO:0031324",
- "UBERON:0004119",
- "UPHENO:0087950",
- "UPHENO:0086635",
- "UBERON:0006333",
- "HP:0009115",
- "UPHENO:0003067",
- "UBERON:0002268",
- "UBERON:0011216",
- "UPHENO:0006146",
- "UPHENO:0006161",
- "UPHENO:0001303",
- "UPHENO:0006140",
- "UPHENO:0033592",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UPHENO:0004520",
- "UPHENO:0033560",
- "UBERON:0000466",
- "UPHENO:0081314",
- "UPHENO:0002962",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
"UPHENO:0033612",
- "UBERON:0002553",
- "UBERON:0007827",
- "UPHENO:0033587",
- "HP:0000202",
- "UBERON:0001004",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0033589",
- "UPHENO:0086824",
- "UPHENO:0002891",
- "UBERON:0004732",
- "HP:0000175",
- "UPHENO:0009021",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0026097",
- "UPHENO:0002595",
- "HP:0003241",
- "HP:0000054",
- "UBERON:0007779",
- "UBERON:0003135",
- "UBERON:0000079",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0005025",
- "UBERON:0001708",
- "UPHENO:0002697",
- "UPHENO:0003058",
- "UBERON:0004053",
- "UBERON:0003101",
- "UPHENO:0008816",
- "HP:0000032",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UPHENO:0002754",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "HP:0002778",
- "UBERON:0002193",
- "UBERON:0002390",
- "UPHENO:0002651",
- "UBERON:0002371",
- "UPHENO:0003065",
- "HP:0005528",
- "HP:0006265",
- "HP:0000811",
- "HP:0001871",
- "HP:0012145",
- "UBERON:0000479",
- "UBERON:0004086",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
"UPHENO:0014351",
- "UPHENO:0014292",
- "UPHENO:0088047",
- "UPHENO:0015184",
- "UBERON:0001359",
- "UPHENO:0014761",
- "NCBITaxon:131567",
- "UPHENO:0014291",
- "UPHENO:0014865",
- "UPHENO:0056158",
- "UBERON:0002103",
- "UBERON:0003947",
- "HP:0002921",
- "UPHENO:0088185",
- "UBERON:0000463",
- "UPHENO:0011845",
- "UPHENO:0063615",
- "UPHENO:0056251",
- "UBERON:0001137",
- "UPHENO:0056150",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
"UBERON:0006983",
- "HP:0000436",
- "UPHENO:0087430",
- "UPHENO:0041098",
- "UPHENO:0002837",
- "UPHENO:0025508",
- "UBERON:0034929",
- "UBERON:0001709",
- "UPHENO:0002668",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0002727",
- "UBERON:0000015",
- "UPHENO:0072195",
- "HP:0001321",
- "UPHENO:0018424",
- "UPHENO:0025544",
- "UPHENO:0002864",
+ "UBERON:0003463",
+ "UBERON:0011137",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
"UPHENO:0072200",
- "UBERON:0001005",
- "UPHENO:0005016",
- "UPHENO:0072194",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
+ "UPHENO:0080377",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "UPHENO:0063562",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
"HP:0001776",
- "UPHENO:0072185",
- "UPHENO:0002887",
- "UBERON:0010222",
- "UPHENO:0009192",
- "CL:0001035",
- "UPHENO:0081119",
- "UPHENO:0088162",
- "UPHENO:0026183",
- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
- "CL:0000764",
- "UPHENO:0088170",
- "HP:0001903",
- "HP:0001877",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- ],
- "has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
+ "UBERON:5002389",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
+ "UPHENO:0003049",
+ "UBERON:0002102",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708",
+ ],
+ "has_phenotype_closure_label": [
+ "kidney hypoplasia",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
+ "decreased length of neck",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
+ "decreased size of the anatomical entity",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
"ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
"central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
+ "nervous system development",
+ "myelination",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
"oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
"anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
"Abnormality of the anus",
- "anatomical conduit atresia",
- "anus",
- "orifice phenotype",
- "kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
+ "absent multicellular anatomical structure in the renal system",
"absent abdomen element in the renal system",
- "upper urinary tract",
- "kidney phenotype",
- "Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
"absent material anatomical entity in the renal system",
"absent cavitated compound organ",
- "absent lateral structure in the renal system",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
"absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
"abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "cavitated compound organ",
- "abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
"Abnormality of the skin",
- "renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
- "manus morphology phenotype",
- "absent uterus",
- "reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
"skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
- "Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
- "decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
- "Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
+ "Abnormal erythrocyte morphology",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
"increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
"flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
- "Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
"anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
- "absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
- "myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "Abnormal forearm morphology",
- "vertebral column",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
"increased number of anatomical entity",
- "absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
- "Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
- "forelimb zeugopod bone",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
"brain ventricle",
- "pectoral appendage",
- "bone element",
- "absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
- "anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
- "Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
"secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
- "sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
+ "oral cavity",
+ "orifice",
"Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
- "craniocervical region",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
- "multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
+ "renal system",
"midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
+ "organ subunit",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "Abnormal hindbrain morphology",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
"decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
+ "segmental subdivision of nervous system",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
"homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
- "dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
"Abnormality of the digestive system",
- "closing of the thoracic segment organ",
- "anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "absent material anatomical entity",
- "cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
"Abnormality of metabolism/homeostasis",
- "dentary",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
- "Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
+ "anatomical entity atresia",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
"tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
+ "thoracic cavity element",
+ "genitourinary system",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
+ "Delayed myelination",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
+ "cellular process",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
"skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
- "absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
+ "upper urinary tract",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
"absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
- "craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
- "body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
"bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
"subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
- "Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
"dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
"negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
"Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
- "occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
- "absent manual digit",
- "external nose phenotype",
- "Abnormal digit morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
"negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
"autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
"anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
"aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
- "camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
- "trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
- "aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
- "fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
- "Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
- "increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
"manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
- "neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
- "penis",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
"absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
- "shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
- "Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
"absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
"regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
+ "neurogenesis",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
+ "system process",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
+ "Abnormal tracheal morphology",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
"cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
"closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
- "immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
- "viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
"Abnormal nervous system morphology",
- "root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
- "external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
- "cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "respiratory airway",
+ "membrane bone",
+ "pectoral appendage",
+ "trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
+ "bone of free limb or fin phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "zeugopod",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
"increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
+ "anatomical conduit",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
"delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
"anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
- "flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
- "neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
- "Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
+ "forelimb phenotype",
"Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
- "tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
- "absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "closing of the anatomical structure",
+ "multi-limb segment region",
+ "multicellular anatomical structure atresia",
"external male genitalia hypoplasia",
- "blood cell",
- "absent endochondral bone",
- "erythrocyte",
- "system development",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- ],
- "has_phenotype_count": 36,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0010953",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group E",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
- "xref": ["DOID:0111084", "GARD:15324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCE",
- "FANCE Fanconi anaemia",
- "FANCE Fanconi anemia",
- "Fanconi Anemia, complementation group type E",
- "Fanconi anaemia caused by mutation in FANCE",
- "Fanconi anaemia complementation group type E",
- "Fanconi anemia caused by mutation in FANCE",
- "Fanconi anemia complementation group E",
- "Fanconi anemia complementation group type E",
- "Fanconi anemia, complementation group E",
- "face",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000104",
- "HP:0001875",
- "HP:0001017",
- "HP:0001876",
- "HP:0000028",
- "HP:0003974",
- "HP:0001873",
- "HP:0009778",
- "HP:0001896",
- "HP:0009777",
- "HP:0000568",
- "HP:0001518",
- "HP:0001263",
- "HP:0003221",
- "HP:0000252",
- "HP:0001249",
- "HP:0009943",
- "HP:0000978",
- "HP:0001627",
- "HP:0000953",
- "HP:0000957",
- "HP:0001903",
- "HP:0000815",
- "HP:0001909",
- "HP:0000081",
- "HP:0000086",
- "HP:0004322",
- "HP:0000486",
- "HP:0000365",
- "HP:0003214",
- "HP:0003213",
- "HP:0000085",
- ],
- "has_phenotype_label": [
- "Renal agenesis",
- "Neutropenia",
- "Anemic pallor",
- "Pancytopenia",
- "Cryptorchidism",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
"Absent radius",
- "Thrombocytopenia",
- "Short thumb",
- "Reticulocytopenia",
- "Absent thumb",
- "Microphthalmia",
- "Small for gestational age",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
- "Complete duplication of thumb phalanx",
- "Bruising susceptibility",
- "Abnormal heart morphology",
- "Hyperpigmentation of the skin",
- "Cafe-au-lait spot",
- "Anemia",
- "Hypergonadotropic hypogonadism",
- "Leukemia",
- "Duplicated collecting system",
- "Ectopic kidney",
- "Short stature",
- "Strabismus",
- "Hearing impairment",
- "Prolonged G2 phase of cell cycle",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "Horseshoe kidney",
- ],
- "has_phenotype_closure": [
- "UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
- "HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
- "HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
- "UPHENO:0080662",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004827",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
- "HP:0002597",
- "UPHENO:0004507",
- "UPHENO:0003086",
- "MPATH:603",
- "UPHENO:0002576",
- "HP:0004377",
- "UBERON:0000948",
- "MPATH:119",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "GO:0050877",
- "HP:0001249",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0053610",
- "GO:0048523",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
- "UPHENO:0050778",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002433",
- "HP:0009142",
- "HP:0012758",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "UPHENO:0002267",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0008604",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0005025",
- "UBERON:0015024",
- "UPHENO:0053559",
- "UBERON:0011138",
- "CL:0000738",
- "UPHENO:0002685",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "HP:0000028",
- "UPHENO:0077399",
- "UPHENO:0053572",
- "HP:0011873",
- "UPHENO:0003056",
- "UPHENO:0002940",
- "HP:0001873",
- "UBERON:0000079",
- "CL:0000457",
- "HP:0000811",
- "UBERON:0011584",
- "UPHENO:0084448",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0025661",
- "UPHENO:0088170",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0002193",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UBERON:0005451",
- "UBERON:0004053",
- "UPHENO:0025545",
- "UPHENO:0046750",
- "UPHENO:0053644",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "HP:0011314",
- "HP:0004323",
- "HP:0001017",
- "HP:0032251",
- "HP:0011893",
- "UPHENO:0086633",
- "HP:0001911",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "UBERON:0001444",
- "UBERON:0005177",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0010000",
- "UPHENO:0077391",
- "HP:0001874",
- "UPHENO:0086176",
- "UPHENO:0009382",
- "HP:0001875",
- "UBERON:0000015",
- "CL:0000094",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0001872",
- "HP:0002817",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0025176",
- "UBERON:0002204",
- "HP:0000077",
- "UBERON:0001008",
- "UPHENO:0027017",
- "UBERON:0000465",
- "HP:0009115",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "HP:0000815",
- "UPHENO:0063794",
- "GO:0043170",
- "CL:0000219",
- "CL:0000988",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UBERON:0002097",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0009344",
- "UPHENO:0008593",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UBERON:0012475",
- "HP:0020047",
- "UPHENO:0009356",
- "UPHENO:0002642",
- "HP:0100887",
- "CL:0002242",
- "UBERON:0005173",
- "UBERON:0004381",
- "GO:0031049",
- "HP:0009822",
- "UPHENO:0077418",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "UPHENO:0026504",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UPHENO:0002536",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0025811",
- "UPHENO:0025211",
- "GO:0040007",
- "UPHENO:0077348",
- "BFO:0000001",
- "CL:0000329",
- "HP:0000001",
- "UPHENO:0012308",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0007272",
- "UPHENO:0053647",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "CL:0000233",
- "UPHENO:0002751",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0027014",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0086700",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "CL:0000232",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0002403",
- "UBERON:0003135",
- "UBERON:0002390",
- "UPHENO:0002526",
- "UPHENO:0011498",
- "HP:0001627",
- "UBERON:0002371",
- "UBERON:0001474",
- "UPHENO:0002803",
- "GO:0050954",
- "UPHENO:0002816",
- "UBERON:0007100",
- "UBERON:0000468",
- "UBERON:0001434",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0008827",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "BFO:0000040",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "UPHENO:0026507",
- "UBERON:0002113",
- "UBERON:0010740",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:5102544",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "HP:0009823",
- "HP:0001896",
- "HP:0000980",
- "UPHENO:0026309",
- "HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "HP:0001871",
- "UPHENO:0011572",
- "CL:0000255",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0008545",
- "UPHENO:0003094",
- "UPHENO:0025546",
- "UPHENO:0025187",
- "HP:0001155",
- "UPHENO:0011533",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "HP:0012210",
- "UPHENO:0002896",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:5002389",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UBERON:0000467",
- "UPHENO:0008825",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0001001",
- "UPHENO:0076703",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0026980",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "HP:0003953",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
- "UBERON:0013701",
- "UBERON:0011216",
- "UBERON:0000479",
- "UPHENO:0026308",
- "UBERON:0001423",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0026146",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0087427",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "UPHENO:0009011",
- "UBERON:0011143",
- "UBERON:0003101",
- "UPHENO:0026600",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "UPHENO:0002595",
- "UBERON:0010707",
- "UPHENO:0004064",
- "UBERON:0000062",
- "HP:0000035",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0002523",
- "UPHENO:0088162",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0053580",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0010935",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0025354",
- "HP:0011844",
- "UBERON:0015204",
- "UBERON:0000061",
- "CL:0000225",
- "UPHENO:0008816",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0086016",
- "UPHENO:0086019",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0000026",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0002389",
- "HP:0012243",
- "UPHENO:0041821",
- "HP:0000032",
- "UPHENO:0003055",
- "UPHENO:0026239",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0003213",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "HP:0001876",
- "UPHENO:0026808",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "UPHENO:0026486",
- "UPHENO:0053566",
- "UBERON:0010538",
- "UBERON:0002075",
- "UPHENO:0002738",
- "PATO:0000001",
- "UPHENO:0081511",
- "UPHENO:0076805",
- "CL:0000775",
- "UPHENO:0025883",
- "UPHENO:0025808",
- "UPHENO:0079876",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "HP:0002011",
- "UPHENO:0011492",
- "HP:0000104",
- "UPHENO:0026095",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0010708",
- "UPHENO:0041075",
- "GO:0006139",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UBERON:0010741",
- "UPHENO:0025508",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UBERON:0003466",
- "UPHENO:0025509",
- "UPHENO:0009366",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025135",
- "UBERON:0003221",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0009341",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0000978",
- "UPHENO:0008865",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UBERON:0015061",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
- "UBERON:0004765",
- "RO:0002577",
- "UBERON:0010712",
- "HP:0001263",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
- "UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
- "UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
- "UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
- "GO:0003008",
- "HP:0011875",
- "UPHENO:0025855",
- "HP:0025461",
- "HP:0002818",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "UBERON:0019231",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "CL:0000763",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002417",
- "UPHENO:0009391",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668",
- ],
- "has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
- "Abnormality of the ear",
- "decreased sensory perception",
- "cell cycle",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
- "Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
- "phalanx of manus",
- "phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
- "number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
- "neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
- "hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
- ],
- "has_phenotype_count": 32,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0019391",
- "category": "biolink:Disease",
- "name": "Fanconi anemia",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
- "xref": [
- "DOID:13636",
- "GARD:6425",
- "ICD9:284.09",
- "MEDGEN:41967",
- "MESH:D005199",
- "MedDRA:10055206",
- "NANDO:1200303",
- "NANDO:1200891",
- "NANDO:2200652",
- "NCIT:C62505",
- "NORD:1132",
- "OMIMPS:227650",
- "Orphanet:84",
- "SCTID:30575002",
- "UMLS:C0015625",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "Fanconi anemia",
- "Fanconi pancytopenia",
- "Fanconi panmyelopathy",
- "Fanconi's anaemia",
- "Fanconi's anemia",
- "Panmyelopathy, Fanconi",
- "pancytopenia, congenital",
- "primary erythroid hypoplasia",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0100867",
- "HP:0100760",
- "HP:0100587",
- "HP:0100542",
- "HP:0100026",
- "HP:0040071",
- "HP:0012639",
- "HP:0012041",
- "HP:0010469",
- "HP:0010293",
- "HP:0008678",
- "HP:0000377",
- "HP:0008053",
- "HP:0007565",
- "HP:0006824",
- "HP:0006265",
- "HP:0006101",
- "HP:0005344",
- "HP:0004349",
- "HP:0004209",
- "HP:0003022",
- "HP:0002863",
- "HP:0002827",
- "HP:0002823",
- "HP:0002575",
- "HP:0002414",
- "HP:0002251",
- "HP:0002245",
- "HP:0002119",
- "HP:0002023",
- "HP:0002007",
- "HP:0001824",
- "HP:0001770",
- "HP:0001763",
- "HP:0001760",
- "HP:0001679",
- "HP:0001646",
- "HP:0001643",
- "HP:0001639",
- "HP:0001636",
- "HP:0001631",
- "HP:0001562",
- "HP:0001537",
- "HP:0001511",
- "HP:0001510",
- "HP:0001392",
- "HP:0001347",
- "HP:0001199",
- "HP:0000864",
- "HP:0000813",
- "HP:0000639",
- "HP:0000582",
- "HP:0000568",
- "HP:0000520",
- "HP:0000518",
- "HP:0000508",
- "HP:0000505",
- "HP:0000504",
- "HP:0000492",
- "HP:0000486",
- "HP:0000483",
- "HP:0000478",
- "HP:0000453",
- "HP:0000365",
- "HP:0000364",
- "HP:0000347",
- "HP:0000340",
- "HP:0000324",
- "HP:0000316",
- "HP:0000286",
- "HP:0000268",
- "HP:0000238",
- "HP:0000218",
- "HP:0000175",
- "HP:0000135",
- "HP:0000130",
- "HP:0000083",
- "HP:0000072",
- "HP:0000047",
- "HP:0000035",
- "HP:0000028",
- "HP:0000027",
- "HP:0000010",
- "HP:0012745",
- "HP:0012210",
- "HP:0007874",
- "HP:0002664",
- "HP:0002650",
- "HP:0001671",
- "HP:0001263",
- "HP:0001249",
- "HP:0000252",
- "HP:0000079",
- "HP:0007400",
- "HP:0006501",
- "HP:0005522",
- "HP:0004322",
- "HP:0003220",
- "HP:0002817",
- "HP:0001903",
- "HP:0001882",
- "HP:0001873",
- "HP:0001871",
- "HP:0001172",
- "HP:0001053",
- "HP:0001000",
- ],
- "has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
- "Abnormal preputium morphology",
- "Abnormal localization of kidney",
- "Arteriovenous malformation",
- "Abnormal morphology of ulna",
- "Abnormal nervous system morphology",
- "Decreased fertility in males",
- "Absent testis",
- "Aplasia/Hypoplasia of the uvula",
- "Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
- "Aplasia/Hypoplasia of the iris",
- "Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
- "Aplasia/Hypoplasia of fingers",
- "Finger syndactyly",
- "Abnormal carotid artery morphology",
- "Reduced bone mineral density",
- "Clinodactyly of the 5th finger",
- "Hypoplasia of the ulna",
- "Myelodysplasia",
- "Hip dislocation",
- "Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
- "Aganglionic megacolon",
- "Meckel diverticulum",
- "Ventriculomegaly",
- "Anal atresia",
- "Frontal bossing",
- "Weight loss",
- "Toe syndactyly",
- "Pes planus",
- "Abnormal foot morphology",
- "Abnormal aortic morphology",
- "Abnormal aortic valve morphology",
- "Patent ductus arteriosus",
- "Hypertrophic cardiomyopathy",
- "Tetralogy of Fallot",
- "Atrial septal defect",
- "Oligohydramnios",
- "Umbilical hernia",
- "Intrauterine growth retardation",
- "Growth delay",
- "Abnormality of the liver",
- "Hyperreflexia",
- "Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
- "Bicornuate uterus",
- "Nystagmus",
- "Upslanted palpebral fissure",
- "Microphthalmia",
- "Proptosis",
- "Cataract",
- "Ptosis",
- "Visual impairment",
- "Abnormality of vision",
- "Abnormal eyelid morphology",
- "Strabismus",
- "Astigmatism",
- "Abnormality of the eye",
- "Choanal atresia",
- "Hearing impairment",
- "Hearing abnormality",
- "Micrognathia",
- "Sloping forehead",
- "Facial asymmetry",
- "Hypertelorism",
- "Epicanthus",
- "Dolichocephaly",
- "Hydrocephalus",
- "High palate",
- "Cleft palate",
- "Hypogonadism",
- "Abnormality of the uterus",
- "Renal insufficiency",
- "Hydroureter",
- "Hypospadias",
- "Abnormal testis morphology",
- "Cryptorchidism",
- "Azoospermia",
- "Recurrent urinary tract infections",
- "Short palpebral fissure",
- "Abnormal renal morphology",
- "Almond-shaped palpebral fissure",
- "Neoplasm",
- "Scoliosis",
- "Abnormal cardiac septum morphology",
- "Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
- "Abnormality of the urinary system",
- "Irregular hyperpigmentation",
- "Aplasia/Hypoplasia of the radius",
- "Pyridoxine-responsive sideroblastic anemia",
- "Short stature",
- "Abnormality of chromosome stability",
- "Abnormality of the upper limb",
- "Anemia",
- "Leukopenia",
- "Thrombocytopenia",
- "Abnormality of blood and blood-forming tissues",
- "Abnormal thumb morphology",
- "Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
- ],
- "has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
- "UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
- "HP:0001877",
- "HP:0001903",
- "GO:0030218",
- "CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
- "HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
- "UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
- "UPHENO:0053571",
- "UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
- "UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
- "HP:0000072",
- "UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
- "HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
- "UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
- "UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
- "HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
- "UPHENO:0080087",
- "UPHENO:0005437",
- "UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
- "UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
- "UBERON:0005726",
- "UPHENO:0005071",
- "HP:0005105",
- "UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
- "UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
- "UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
- "HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
- "UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
- "UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
- "UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
- "UPHENO:0002977",
- "UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
- "UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
- "UPHENO:0075995",
- "UBERON:0005897",
- "UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
- "UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
- "HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
- "UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
- "UPHENO:0049622",
- "NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
- "NBO:0000403",
- "UPHENO:0049699",
- "UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
- "UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
- "UPHENO:0052178",
- "UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
- "UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
- "HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
- "UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
- "UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
- "UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
- "UBERON:0002081",
- "UPHENO:0075208",
- "HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
- "UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
- "UPHENO:0066913",
- "UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
- "UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
- "UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
- "UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
- "UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
- "UPHENO:0033598",
- "UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
- "UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
- "UPHENO:0086866",
- "UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
- "UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
- "UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
- "UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
- "UPHENO:0041565",
- "UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
- "UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
- "HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
- "UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
- "HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
- "UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
- "UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
- "UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
- "UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
- "UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
- "UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
- "UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
- "HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
- "UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
- "UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
- "UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
- "UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
- "UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
- "UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
- "HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
- "UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
- "UBERON:0002114",
- "UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
- "UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
- "BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
- "UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
- "UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
- "UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
- "HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
- "UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
- "HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
- "HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
- "UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
- "HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
- "UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
- "UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
- "UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
- "UPHENO:0005058",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
- "UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
- "UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
- "HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
- "UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
- "UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
- "HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
- "UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
- "UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
- "HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
- "UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
- "RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914",
- ],
- "has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
- "Hypopigmented skin patches",
- "serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
- "Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
- "Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
- "Abnormal morphology of the radius",
- "radius endochondral element",
- "radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
- "zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
- "asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
- "naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
- "Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
- "bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
- "manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
- "manual digit bone",
- "manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
- "phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
- "Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
- "herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
- "organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
- "late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
- "Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
- "mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
- "great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
- "anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
- "anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
"forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
+ "radius bone",
"skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
"pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "segmental subdivision of nervous system phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
+ "viscus",
"axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
"alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "postcranial axial skeleton",
+ "musculoskeletal system",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
"Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
+ "aplasia or hypoplasia of anatomical entity",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
+ "aplasia or hypoplasia of skeleton",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
"alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "subdivision of skeletal system phenotype",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
+ "subdivision of organism along appendicular axis",
"increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
+ "Craniofacial cleft",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
+ "primary subdivision of cranial skeletal system",
+ "absent endochondral bone",
+ "limb long bone",
+ "dermal skeleton",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
+ "forelimb bone phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
+ "head",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "organ subunit phenotype",
"Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
+ "autopod region",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
+ "renal system phenotype",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
+ "anatomical system phenotype",
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
"regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
"intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype",
],
- "has_phenotype_count": 106,
+ "has_phenotype_count": 36,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0013248",
+ "id": "MONDO:0010953",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
+ "name": "Fanconi anemia complementation group E",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
- "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
+ "xref": ["DOID:0111084", "GARD:15324", "MEDGEN:463628", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia",
+ "FACE",
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0000126",
- "HP:0002984",
+ "HP:0000104",
+ "HP:0001875",
+ "HP:0001017",
+ "HP:0001876",
"HP:0000028",
+ "HP:0003974",
+ "HP:0001873",
"HP:0009778",
- "HP:0009623",
+ "HP:0001896",
"HP:0009777",
+ "HP:0000568",
+ "HP:0001518",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0000978",
"HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
+ "HP:0000953",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0000815",
+ "HP:0001909",
+ "HP:0000081",
+ "HP:0000086",
"HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023",
+ "HP:0000486",
+ "HP:0000365",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085",
],
"has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
+ "Renal agenesis",
+ "Neutropenia",
+ "Anemic pallor",
+ "Pancytopenia",
"Cryptorchidism",
+ "Absent radius",
+ "Thrombocytopenia",
"Short thumb",
- "Proximal placement of thumb",
+ "Reticulocytopenia",
"Absent thumb",
- "Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
+ "Abnormal heart morphology",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Hypergonadotropic hypogonadism",
+ "Leukemia",
+ "Duplicated collecting system",
+ "Ectopic kidney",
"Short stature",
- "Small thenar eminence",
- "Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia",
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney",
],
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
+ "UPHENO:0041226",
+ "HP:0000085",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0002903",
+ "HP:0000364",
+ "UPHENO:0052161",
+ "HP:0031704",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002211",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
+ "HP:0100542",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
+ "HP:0000086",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
"UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
+ "UPHENO:0066927",
"UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "HP:0001903",
+ "HP:0012733",
+ "HP:0011355",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "HP:0000953",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
+ "UPHENO:0004827",
+ "UPHENO:0002634",
+ "UBERON:0000948",
+ "UPHENO:0003086",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "CL:0000558",
+ "HP:0000152",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "UBERON:0011137",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "UBERON:0000479",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UBERON:0012141",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "HP:0001876",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "BFO:0000015",
+ "UPHENO:0004523",
+ "GO:0031326",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
"UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
+ "UPHENO:0003001",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
+ "HP:0001507",
+ "UPHENO:3000007",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
+ "UPHENO:0046741",
+ "UBERON:0010230",
+ "UBERON:0000019",
"UPHENO:0002832",
- "UPHENO:0046483",
- "GO:0031324",
- "UPHENO:0004900",
- "UPHENO:0008548",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UBERON:0012354",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UPHENO:0086635",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0076941",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0025808",
"HP:0009115",
- "UBERON:0002204",
- "UBERON:0000465",
- "UPHENO:0027017",
- "HP:0011314",
- "UPHENO:0005214",
- "HP:0003774",
- "UBERON:0001008",
- "HP:0000077",
- "UBERON:0001245",
- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
- "UBERON:0019231",
- "UPHENO:0046538",
- "HP:0000002",
- "HP:0009826",
- "UPHENO:0002593",
- "UPHENO:0086956",
- "GO:0008150",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005409",
- "UBERON:0003103",
- "HP:0009821",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0050065",
- "HP:0010946",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0001871",
"UPHENO:0075944",
- "HP:0011277",
+ "HP:0000496",
+ "UBERON:0002470",
"UBERON:0008962",
- "HP:0009484",
- "UPHENO:0009209",
- "UBERON:0015001",
"UBERON:0001440",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UBERON:0011582",
+ "HP:0040068",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0076799",
+ "UPHENO:0025176",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "HP:0002813",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0086633",
+ "UPHENO:0025553",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0009380",
+ "HP:0007364",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0002983",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "UPHENO:0026308",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UBERON:0002113",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UBERON:0015061",
+ "UPHENO:0077348",
+ "UPHENO:0026811",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0026317",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0026506",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UBERON:0000026",
+ "HP:0001574",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0011568",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0003227",
+ "UPHENO:0025855",
+ "UBERON:0002104",
+ "UPHENO:0004507",
+ "UBERON:0004288",
+ "UPHENO:0025961",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0011573",
+ "UPHENO:0080187",
+ "UPHENO:0025652",
+ "UBERON:0003101",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UPHENO:0076754",
+ "UPHENO:0026183",
+ "HP:0009381",
+ "UPHENO:0053647",
"UPHENO:0002554",
- "UPHENO:0074311",
- "UPHENO:0003812",
- "UBERON:0002386",
- "HP:0012732",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "HP:0001627",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0003055",
+ "UPHENO:0003415",
+ "UBERON:0000990",
"UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0003084",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0069163",
- "UBERON:0004381",
- "UPHENO:0087346",
- "UBERON:0005173",
- "UPHENO:0003095",
+ "HP:0009943",
+ "HP:0008678",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0008548",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "UPHENO:0053572",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0005025",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
"UBERON:0000991",
- "UPHENO:0002648",
- "UBERON:0006717",
- "UPHENO:0068848",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UBERON:0002495",
- "UPHENO:0050126",
- "UBERON:0008785",
- "UPHENO:0076718",
- "UBERON:0011584",
- "UBERON:0011582",
- "UPHENO:0002600",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0010000",
- "HP:0010945",
- "UPHENO:0087349",
- "UPHENO:0046455",
- "UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002659",
- "HP:0040068",
- "HP:0009824",
- "UPHENO:0012274",
"UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0076727",
- "UBERON:0011143",
- "UPHENO:0069064",
- "GO:0005623",
- "UPHENO:0078606",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "UPHENO:0046505",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UBERON:0000064",
- "UPHENO:0002576",
- "HP:0000028",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UBERON:0001224",
- "UPHENO:0002632",
- "UBERON:0000489",
- "HP:0040064",
- "UPHENO:0050007",
- "HP:0010944",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UPHENO:0068971",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0053566",
+ "UPHENO:0008604",
+ "UPHENO:0049743",
"UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0002852",
- "UPHENO:0002525",
- "UBERON:0001062",
- "HP:0000126",
- "UBERON:0002101",
- "HP:0001197",
- "HP:0000001",
- "UPHENO:0002536",
- "GO:0009890",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UBERON:0000323",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0084132",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UPHENO:0002650",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UBERON:0002091",
- "UBERON:0000026",
- "UBERON:0004120",
- "RO:0002577",
"UBERON:0004765",
- "HP:0034058",
- "UBERON:0000075",
- "UPHENO:0001478",
- "BFO:0000004",
+ "UPHENO:0002685",
"NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0046540",
- "UBERON:0001474",
- "UPHENO:0002803",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "UPHENO:0075949",
- "UPHENO:0068838",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "HP:0005922",
- "UPHENO:0079872",
"UBERON:0002428",
- "UBERON:0002100",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0084124",
- "HP:0000924",
- "UPHENO:0003415",
- "UBERON:5001463",
- "UBERON:0000916",
- "UPHENO:0069125",
- "UPHENO:0063639",
- "UBERON:0002113",
- "UBERON:0015021",
- "UBERON:0000467",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0011249",
- "UBERON:0009569",
- "UPHENO:0012312",
- "HP:0011017",
- "BFO:0000015",
- "UBERON:5002389",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0001134",
- "UPHENO:0049620",
- "HP:0006496",
- "GO:0060255",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0002909",
- "MPATH:55",
- "HP:0034242",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "UPHENO:0075893",
- "UPHENO:0002816",
- "UPHENO:0002754",
- "UPHENO:0002246",
- "HP:0003026",
- "UBERON:0000922",
- "UBERON:0004481",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0001147",
- "HP:0000032",
- "UPHENO:3000001",
- "GO:0010558",
- "UPHENO:0068839",
- "UBERON:0001009",
- "UBERON:0007100",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
+ "UPHENO:0025776",
+ "CL:0000225",
+ "UBERON:0001434",
+ "UBERON:0001423",
+ "UBERON:0002199",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0005561",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UPHENO:0003811",
"UBERON:0000468",
- "UPHENO:0068912",
- "UBERON:0015061",
- "UBERON:0011676",
- "HP:0005773",
- "UPHENO:0002733",
- "UBERON:0013701",
- "HP:0002817",
- "HP:0003220",
+ "UPHENO:0002548",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "MPATH:105",
+ "CL:0000988",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0032309",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "HP:0001881",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UBERON:0002495",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "HP:0011893",
+ "UPHENO:0085371",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UPHENO:0006894",
+ "HP:0001911",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UBERON:0000383",
"UPHENO:0087427",
- "HP:0011927",
- "UPHENO:0076810",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "HP:0010935",
- "UPHENO:0046445",
- "UPHENO:0084829",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
+ "HP:0032251",
+ "UPHENO:0076703",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UPHENO:0025585",
+ "UBERON:0010222",
"UPHENO:0081581",
- "UPHENO:0069327",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "UPHENO:0003045",
- "HP:0034057",
- "UPHENO:0086682",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0002976",
- "UBERON:0004122",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "UBERON:0004921",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0001017",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0026806",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "CL:0000255",
+ "UPHENO:0003082",
+ "HP:0003953",
"UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0074227",
- "UPHENO:0001001",
+ "UPHENO:0086176",
+ "HP:0012372",
+ "UPHENO:0063787",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UPHENO:0008593",
+ "UPHENO:0009011",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0013702",
+ "UPHENO:0025845",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UPHENO:0076692",
+ "UPHENO:0004595",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "MPATH:603",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "UPHENO:0026813",
+ "HP:0012243",
+ "UPHENO:0027017",
"UPHENO:0002530",
- "HP:0000107",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "HP:0011425",
- "UBERON:0008837",
- "UPHENO:0069047",
- "UPHENO:0001072",
- "UPHENO:0046396",
- "HP:0006503",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "HP:0000978",
"UPHENO:0002782",
- "BFO:0000040",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0000062",
- "HP:0000035",
- "UBERON:0005177",
- "UBERON:0004176",
- "UBERON:0004111",
- "UPHENO:0046479",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002411",
- "UBERON:0036295",
- "HP:0004322",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "HP:0011805",
- "UPHENO:0086633",
- "UPHENO:0046392",
- "HP:0001939",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0002945",
- "UBERON:0013702",
- "UPHENO:0069046",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0002417",
- "GO:0048523",
- "UPHENO:0046403",
- "UBERON:0012475",
- "UBERON:0005156",
- "HP:0011842",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "MPATH:1000",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "GO:0050794",
- "UBERON:0010708",
- "UPHENO:0069292",
- "UPHENO:0076783",
- "UPHENO:0002377",
- "UBERON:0010741",
- "UBERON:0001434",
- "UPHENO:0003227",
- "UPHENO:0002559",
- "HP:0002984",
- "HP:0033127",
- "UBERON:0004710",
- "HP:0040012",
- "UBERON:0010740",
- "GO:0031323",
- "UPHENO:0081424",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "BFO:0000001",
- "GO:0040007",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0000061",
- "MPATH:62",
- "UBERON:0003607",
- "UPHENO:0063596",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "HP:0000478",
+ "HP:0000951",
+ "HP:0010987",
+ "CL:0000457",
+ "UPHENO:0026309",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "HP:0000077",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "HP:0012210",
+ "UPHENO:0009163",
+ "UBERON:0001062",
+ "GO:0009987",
"UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069194",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UBERON:5002544",
- "UPHENO:0084841",
- "UPHENO:0011572",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "UPHENO:0012440",
- "HP:0002973",
- "UPHENO:0068932",
- "UBERON:0000160",
- "UPHENO:0011536",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
"UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0003025",
- "UPHENO:0001002",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0003088",
"UBERON:0010912",
- "UPHENO:0084448",
- "HP:0009778",
- "UPHENO:0053647",
- "UPHENO:0002940",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
- "UPHENO:0003056",
- "UPHENO:0050778",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UBERON:0000473",
- "UPHENO:0053572",
- "UPHENO:0053571",
- "UBERON:0003135",
- "UPHENO:0076710",
- "HP:0001510",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UBERON:0000079",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004708",
- "UPHENO:0026506",
- "HP:0003241",
- "UPHENO:0002685",
- "UPHENO:0053559",
- "UPHENO:0049743",
- "UPHENO:0005025",
- "HP:0000811",
- "GO:0031049",
- "UPHENO:0049775",
- "UPHENO:0000541",
- "HP:0010461",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UBERON:0003101",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0002523",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UBERON:0010708",
+ "UPHENO:0001001",
"UPHENO:0000543",
- "HP:0012243",
- "UPHENO:0003055",
- "UPHENO:0086700",
- "UBERON:0003466",
- "HP:0004097",
- "UBERON:0006048",
- "UBERON:0012139",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "UPHENO:0004476",
- "UPHENO:0084761",
- "UBERON:0002544",
- "HP:0040072",
- "UPHENO:0046741",
- "UPHENO:0002708",
+ "CL:0000458",
+ "MPATH:1000",
"UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0002714",
- "HP:0001155",
- "UPHENO:0003082",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UPHENO:0075763",
- "HP:0009381",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0002422",
- "UBERON:0004480",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UBERON:0000948",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076776",
- "HP:0012718",
- "UPHENO:0086644",
- "UBERON:0010758",
- "GO:0010468",
- "UBERON:0002389",
- "HP:0011297",
- "HP:0009623",
- "UBERON:0012140",
- "UPHENO:0080369",
- "GO:0042592",
- "UPHENO:0084834",
- "UPHENO:0002595",
- "HP:0009603",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0004535",
- "UBERON:0006058",
+ "CL:0000000",
+ "UPHENO:0077391",
+ "UPHENO:0026507",
+ "UPHENO:0002352",
+ "UBERON:0002075",
"UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "GO:0009889",
- "UPHENO:0001044",
- "UBERON:0005090",
- "UPHENO:0008668",
- "HP:0000079",
+ "UBERON:0011216",
+ "UPHENO:0002945",
+ "UPHENO:0002526",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UBERON:0000079",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UBERON:0010543",
"UPHENO:0081451",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0026640",
- "UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0049868",
- "UBERON:0008878",
- "UPHENO:0026643",
- "UBERON:0015410",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0000915",
- "UPHENO:0004831",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UBERON:0015228",
- "UPHENO:0004469",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0076779",
- "UBERON:0005181",
- "UPHENO:0004827",
- "UPHENO:0004507",
- "UPHENO:0002786",
- "HP:0006265",
- "UBERON:0005178",
- "MPATH:56",
- "UPHENO:0003086",
- "MPATH:603",
- "MPATH:0",
- "GO:0050789",
- "UPHENO:0074310",
- "CL:0000000",
- "UPHENO:9002003",
- "GO:0008152",
- "GO:0065007",
- "UBERON:0034923",
- "UPHENO:0086172",
- "GO:0031327",
- "UPHENO:0050025",
- "GO:0031052",
- "UPHENO:0050435",
- "UPHENO:0050063",
- "GO:0010605",
- "GO:0010556",
- "UPHENO:0049642",
- "GO:0031326",
- "BFO:0000003",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "UPHENO:0002861",
- "UPHENO:0003022",
- "UPHENO:0050040",
- "UPHENO:0069254",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "HP:0012758",
+ "BFO:0000002",
+ "UBERON:0000467",
+ "UPHENO:0011931",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0066945",
"UPHENO:0002597",
- "UPHENO:0049757",
- "UPHENO:0080351",
- "UBERON:0017716",
- "GO:0010629",
- "HP:0001227",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0002649",
- "UPHENO:0002651",
- "UBERON:0001630",
- "UBERON:0004489",
+ "UBERON:0002371",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0004064",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0004375",
+ "UPHENO:0008430",
+ "UBERON:0000481",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176",
],
"has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "decreased multicellular organismal process",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Hearing abnormality",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
+ "decreased qualitatively multicellular organismal process",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
"lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
+ "Growth delay",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "Ectopic kidney",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Anemia",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "Abnormality of skin pigmentation",
+ "increased pigmentation in skin of body",
+ "biological_process rate phenotype",
+ "primary circulatory organ phenotype",
+ "heart",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "material anatomical entity",
+ "superficial fascia",
+ "Abnormality of the eye",
+ "pathological phenotype observation",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "multicellular organism phenotype",
+ "Abnormal heart morphology",
"biological_process phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "obsolete protein-containing material entity",
+ "pathological anatomical entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
+ "forebrain",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
"Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "anucleate cell",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "genitourinary system phenotype",
+ "male organism phenotype",
"Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Abnormality of the nervous system",
+ "Neurodevelopmental delay",
"appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
+ "Abnormal nervous system physiology",
+ "manual digit 1 phalanx endochondral element",
+ "Global developmental delay",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
+ "process",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "growth phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "multicellular organismal process",
+ "absent radius bone",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "craniocervical region phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
+ "multicellular anatomical structure phenotype",
+ "Abnormal renal morphology",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
"segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
- "negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
+ "absent kidney",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
"decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
"size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
"Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
+ "arm",
+ "root",
+ "Abnormal platelet morphology",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "vasculature phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "Abnormality of reproductive system physiology",
"musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
+ "musculature of body",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "absent bone of appendage girdle complex",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "Absent forearm bone",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "appendicular skeleton phenotype",
+ "absent forelimb zeugopod bone",
+ "eyeball of camera-type eye phenotype",
+ "zeugopod",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "circulatory organ phenotype",
+ "forelimb",
+ "decreased number of material anatomical entity",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "arm phenotype",
+ "absent endochondral element in the limb",
+ "absent endochondral bone",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "vasculature",
"limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal forearm bone morphology",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
"phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "regulation of cellular biosynthetic process phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "organism subdivision phenotype",
"kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
"absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
+ "absent forelimb endochondral element in the limb",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "ectoderm-derived structure",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "male reproductive system",
+ "cardiovascular system",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "mesoderm-derived structure phenotype",
"reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Abnormal reticulocyte morphology",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "forelimb bone phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "bone cell",
+ "myeloid leukocyte phenotype",
"Abnormality of the skeletal system",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "male reproductive organ",
+ "biogenic amine secreting cell",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
"lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "pectoral appendage skeleton phenotype",
+ "subdivision of organism along appendicular axis",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "manus bone",
+ "absent endochondral element",
+ "Abnormality of the immune system",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "localised gonad",
+ "absent lateral structure",
+ "reproductive organ",
+ "skeleton phenotype",
+ "localised anatomical entity",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "reproductive system phenotype",
+ "integumental system phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "localised testis",
+ "localised anatomical structure",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "multi-limb segment region",
+ "testis",
+ "granulocyte morphology phenotype",
+ "Abnormal external genitalia",
+ "musculoskeletal system phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "Abnormality of the male genitalia",
+ "bone element",
+ "vision/eye phenotype",
+ "secretory cell",
+ "tissue",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "nervous system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "Abnormality of the skin",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeleton of limb",
+ "external genitalia phenotype",
+ "integumental system",
+ "cavitated compound organ phenotype",
"Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
+ "number of anatomical enitites of type kidney phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "immune system",
+ "absent trunk region element in the renal system",
+ "decreased number of cell",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "excretory system",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "head",
+ "bone marrow",
+ "anatomical system",
+ "nervous system phenotype",
+ "Abnormal leukocyte count",
+ "nervous system physiology phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
"skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "sensory perception phenotype",
+ "increased pigmentation",
"upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
+ "limb long bone",
+ "heart plus pericardium",
+ "absent anatomical entity",
+ "response to stimulus phenotype",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "Abnormal bleeding",
+ "cell",
"bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "absent forelimb bone in the forelimb",
+ "blood cell",
+ "Renal agenesis",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "number of cell phenotype",
+ "Abnormal testis morphology",
"disconnected anatomical group",
+ "hematopoietic system",
+ "vascular system",
+ "nucleate cell",
+ "absent anatomical structure in the renal system",
+ "granulocyte",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "regional part of nervous system",
+ "Reticulocytopenia",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "gonad phenotype",
+ "regulation of gene expression",
+ "localised multicellular anatomical structure",
+ "hemolymphoid system",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "arm bone",
+ "anatomical entity phenotype",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "paired limb/fin segment",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "Abnormality of the genitourinary system",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skeletal element",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "localised reproductive organ",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased number of leukocyte",
+ "skeleton of limb phenotype",
+ "absent compound organ",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "renal system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "organ phenotype",
+ "head morphology phenotype",
"Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
+ "Renal hypoplasia/aplasia",
+ "skeletal element phenotype",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "sensory perception of sound",
+ "main body axis",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "absent abdominal segment element",
+ "absent multicellular anatomical structure",
+ "decreased system process",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "erythrocyte",
+ "absent material anatomical entity in the multicellular organism",
+ "absent multicellular anatomical structure in the renal system",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "circulatory disorder",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "abdominal segment of trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "continuant",
+ "neutrophil phenotype",
+ "eye movement phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
"regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
+ "thoracic segment organ phenotype",
+ "Generalized abnormality of skin",
+ "biological regulation",
"manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
- "Abnormal thumb morphology",
+ "organism subdivision",
+ "absent anatomical structure in the multicellular organism",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
+ "regulation of biological process",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal reproductive system morphology",
+ "forelimb zeugopod bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "cardiovascular system morphology phenotype",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neutropenia",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "skin of body phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of metabolism/homeostasis",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "entity",
+ "anatomical entity",
+ "Abnormal neutrophil count",
+ "absent compound organ in the renal system",
+ "trunk region element",
+ "upper limb segment phenotype",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "mesoderm-derived structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type compound organ phenotype",
+ "Abnormal erythrocyte morphology",
+ "absent trunk region element",
+ "regulation of macromolecule metabolic process phenotype",
+ "absent abdominal segment element in the renal system",
+ "hematopoietic cell",
+ "leukocyte",
+ "absent bone of free limb or fin in the limb",
+ "renal system",
+ "appendicular skeletal system",
+ "absent lateral structure in the renal system",
+ "renal system morphology phenotype",
+ "limb phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "musculature phenotype",
+ "absent limb long bone",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic anatomical entity",
+ "delayed biological_process",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "nervous system process",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "erythroid lineage cell",
+ "platelet",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ ],
+ "has_phenotype_count": 32,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0001083",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0019391",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
+ "xref": [
+ "DOID:13636",
+ "GARD:6425",
+ "ICD9:284.09",
+ "MEDGEN:41967",
+ "MESH:D005199",
+ "MedDRA:10055206",
+ "NANDO:1200303",
+ "NANDO:1200891",
+ "NANDO:2200652",
+ "NCIT:C62505",
+ "NORD:1132",
+ "OMIMPS:227650",
+ "Orphanet:84",
+ "SCTID:30575002",
+ "UMLS:C0015625",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "Fanconi anemia",
+ "Fanconi pancytopenia",
+ "Fanconi panmyelopathy",
+ "Fanconi's anaemia",
+ "Fanconi's anemia",
+ "Panmyelopathy, Fanconi",
+ "pancytopenia, congenital",
+ "primary erythroid hypoplasia",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100587",
+ "HP:0100542",
+ "HP:0100026",
+ "HP:0040071",
+ "HP:0012639",
+ "HP:0012041",
+ "HP:0010469",
+ "HP:0010293",
+ "HP:0008678",
+ "HP:0000377",
+ "HP:0008053",
+ "HP:0007565",
+ "HP:0006824",
+ "HP:0006265",
+ "HP:0006101",
+ "HP:0005344",
+ "HP:0004349",
+ "HP:0004209",
+ "HP:0003022",
+ "HP:0002863",
+ "HP:0002827",
+ "HP:0002823",
+ "HP:0002575",
+ "HP:0002414",
+ "HP:0002251",
+ "HP:0002245",
+ "HP:0002119",
+ "HP:0002023",
+ "HP:0002007",
+ "HP:0001824",
+ "HP:0001770",
+ "HP:0001763",
+ "HP:0001760",
+ "HP:0001679",
+ "HP:0001646",
+ "HP:0001643",
+ "HP:0001639",
+ "HP:0001636",
+ "HP:0001631",
+ "HP:0001562",
+ "HP:0001537",
+ "HP:0001511",
+ "HP:0001510",
+ "HP:0001392",
+ "HP:0001347",
+ "HP:0001199",
+ "HP:0000864",
+ "HP:0000813",
+ "HP:0000639",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000520",
+ "HP:0000518",
+ "HP:0000505",
+ "HP:0000504",
+ "HP:0000492",
+ "HP:0000486",
+ "HP:0000483",
+ "HP:0000478",
+ "HP:0000453",
+ "HP:0000365",
+ "HP:0000364",
+ "HP:0000347",
+ "HP:0000340",
+ "HP:0000324",
+ "HP:0000316",
+ "HP:0000286",
+ "HP:0000268",
+ "HP:0000238",
+ "HP:0000218",
+ "HP:0000175",
+ "HP:0000135",
+ "HP:0000130",
+ "HP:0000083",
+ "HP:0000072",
+ "HP:0000047",
+ "HP:0000035",
+ "HP:0000028",
+ "HP:0000027",
+ "HP:0000010",
+ "HP:0012745",
+ "HP:0012210",
+ "HP:0007874",
+ "HP:0002664",
+ "HP:0002650",
+ "HP:0001671",
+ "HP:0001263",
+ "HP:0001249",
+ "HP:0000252",
+ "HP:0000079",
+ "HP:0007400",
+ "HP:0006501",
+ "HP:0005522",
+ "HP:0004322",
+ "HP:0003220",
+ "HP:0002817",
+ "HP:0001903",
+ "HP:0001882",
+ "HP:0001873",
+ "HP:0001871",
+ "HP:0001172",
+ "HP:0001053",
+ "HP:0001000",
+ "HP:0000508",
+ ],
+ "has_phenotype_label": [
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal preputium morphology",
+ "Abnormal localization of kidney",
+ "Arteriovenous malformation",
+ "Abnormal morphology of ulna",
+ "Abnormal nervous system morphology",
+ "Decreased fertility in males",
+ "Absent testis",
+ "Aplasia/Hypoplasia of the uvula",
+ "Renal hypoplasia/aplasia",
+ "Abnormal pinna morphology",
+ "Aplasia/Hypoplasia of the iris",
+ "Multiple cafe-au-lait spots",
+ "Cranial nerve paralysis",
"Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
- "thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
+ "Finger syndactyly",
+ "Abnormal carotid artery morphology",
+ "Reduced bone mineral density",
+ "Clinodactyly of the 5th finger",
+ "Hypoplasia of the ulna",
+ "Myelodysplasia",
+ "Hip dislocation",
+ "Abnormal femur morphology",
+ "Tracheoesophageal fistula",
+ "Spina bifida",
+ "Aganglionic megacolon",
+ "Meckel diverticulum",
+ "Ventriculomegaly",
+ "Anal atresia",
+ "Frontal bossing",
+ "Weight loss",
+ "Toe syndactyly",
+ "Pes planus",
+ "Abnormal foot morphology",
+ "Abnormal aortic morphology",
+ "Abnormal aortic valve morphology",
+ "Patent ductus arteriosus",
+ "Hypertrophic cardiomyopathy",
+ "Tetralogy of Fallot",
+ "Atrial septal defect",
+ "Oligohydramnios",
+ "Umbilical hernia",
+ "Intrauterine growth retardation",
+ "Growth delay",
+ "Abnormality of the liver",
+ "Hyperreflexia",
+ "Triphalangeal thumb",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Bicornuate uterus",
+ "Nystagmus",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Proptosis",
+ "Cataract",
+ "Visual impairment",
+ "Abnormality of vision",
+ "Abnormal eyelid morphology",
+ "Strabismus",
+ "Astigmatism",
+ "Abnormality of the eye",
+ "Choanal atresia",
+ "Hearing impairment",
+ "Hearing abnormality",
+ "Micrognathia",
+ "Sloping forehead",
+ "Facial asymmetry",
+ "Hypertelorism",
+ "Epicanthus",
+ "Dolichocephaly",
+ "Hydrocephalus",
+ "High palate",
+ "Cleft palate",
+ "Hypogonadism",
+ "Abnormality of the uterus",
+ "Renal insufficiency",
+ "Hydroureter",
+ "Hypospadias",
+ "Abnormal testis morphology",
+ "Cryptorchidism",
+ "Azoospermia",
+ "Recurrent urinary tract infections",
+ "Short palpebral fissure",
"Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
- "regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
- "delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
+ "Almond-shaped palpebral fissure",
+ "Neoplasm",
+ "Scoliosis",
+ "Abnormal cardiac septum morphology",
+ "Global developmental delay",
+ "Intellectual disability",
+ "Microcephaly",
+ "Abnormality of the urinary system",
+ "Irregular hyperpigmentation",
+ "Aplasia/Hypoplasia of the radius",
+ "Pyridoxine-responsive sideroblastic anemia",
"Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus",
- ],
- "has_phenotype_count": 15,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0013499",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
- "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia",
+ "Abnormality of chromosome stability",
+ "Abnormality of the upper limb",
+ "Anemia",
+ "Leukopenia",
+ "Thrombocytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal thumb morphology",
+ "Hypopigmented skin patches",
+ "Abnormality of skin pigmentation",
+ "Ptosis",
],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001876",
+ "has_phenotype_closure": [
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
+ "UPHENO:0077889",
+ "CL:0000233",
+ "CL:0000225",
+ "HP:0001872",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
+ "HP:0001881",
+ "UPHENO:0063722",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
+ "UPHENO:0088337",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
+ "HP:0011017",
+ "HP:0001939",
+ "UPHENO:0075159",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
+ "HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
+ "HP:0001903",
+ "GO:0030218",
+ "GO:0030097",
+ "CL:0000764",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
+ "UPHENO:0080187",
+ "HP:0002818",
+ "HP:0006501",
+ "HP:0007364",
+ "HP:0000252",
+ "UPHENO:0075220",
+ "HP:0000240",
+ "GO:0050890",
+ "HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
+ "HP:0200005",
+ "UPHENO:0046487",
+ "UPHENO:0046755",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
+ "UPHENO:0085874",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
+ "UPHENO:0052965",
+ "UPHENO:0002599",
+ "UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
+ "UBERON:0004054",
+ "CL:0000015",
+ "CL:0000408",
+ "UPHENO:0049940",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
+ "UPHENO:0078452",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
+ "UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
+ "UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
+ "UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
+ "UBERON:0001333",
+ "UBERON:0036295",
+ "UBERON:0006555",
+ "HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "HP:0012211",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
+ "HP:5201015",
+ "UPHENO:0033592",
+ "UPHENO:0033587",
+ "UPHENO:0063527",
+ "UPHENO:0063515",
+ "UPHENO:0001392",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
+ "UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
+ "UPHENO:0014240",
+ "UPHENO:0011531",
+ "HP:0000238",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
+ "UPHENO:0001231",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
+ "UPHENO:0072195",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0084729",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
+ "HP:0011821",
+ "UPHENO:0080087",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
+ "UPHENO:0050234",
+ "UPHENO:0005513",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
+ "UBERON:0010425",
+ "UBERON:0005726",
+ "UPHENO:0005230",
+ "UBERON:0000004",
+ "HP:0005105",
+ "UPHENO:0003048",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
+ "UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
+ "UBERON:0010409",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
+ "UBERON:0000015",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
+ "UPHENO:0050620",
+ "UPHENO:0004621",
+ "UPHENO:0052165",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
+ "HP:0000518",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
+ "UPHENO:0076761",
+ "HP:0000520",
+ "UBERON:0003840",
+ "UBERON:0035639",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
+ "UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
+ "UPHENO:0076766",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
+ "UBERON:0013515",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
+ "UPHENO:0075995",
+ "UPHENO:0003069",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
+ "UBERON:0012151",
+ "HP:0001172",
+ "UPHENO:0051276",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
+ "UPHENO:0049622",
+ "NBO:0000001",
+ "UPHENO:0002941",
+ "NBO:0000403",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
+ "UPHENO:0050079",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
+ "UPHENO:0002780",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
+ "UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0052160",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
+ "UPHENO:0005642",
+ "HP:0001511",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
+ "UPHENO:0033610",
+ "UPHENO:0033615",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
+ "UPHENO:0002532",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
+ "UPHENO:0003827",
+ "HP:0011994",
+ "UPHENO:0086857",
+ "UBERON:0002081",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
+ "HP:0011563",
+ "UBERON:0000473",
+ "HP:0011545",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
+ "UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
+ "UPHENO:0004724",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
+ "UPHENO:0033581",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
+ "UBERON:0018674",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
+ "UPHENO:0005134",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
+ "UBERON:0003498",
+ "UPHENO:0002948",
"HP:0000347",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
- "HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
+ "UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
+ "UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
"HP:0000365",
- "HP:0000252",
- "HP:0001045",
- ],
- "has_phenotype_label": [
- "Pancytopenia",
- "Micrognathia",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
- "Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
- "Microcephaly",
- "Vitiligo",
- ],
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "NCBITaxon:2759",
+ "UPHENO:0033579",
+ "HP:0000478",
+ "UPHENO:0005177",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
+ "UPHENO:0086866",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "HP:0004348",
+ "UPHENO:0046465",
+ "UPHENO:0076743",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
+ "UPHENO:0005118",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
+ "UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
+ "UPHENO:0041098",
+ "GO:0009888",
+ "UPHENO:0041041",
+ "UPHENO:0084767",
+ "HP:0001770",
+ "UPHENO:0078347",
+ "HP:0004325",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
+ "UPHENO:0010795",
+ "GO:0007605",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
+ "HP:0001507",
+ "HP:0002683",
+ "UPHENO:0002700",
+ "UPHENO:0002815",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
+ "UPHENO:0049904",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
+ "UBERON:0004766",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
+ "UPHENO:0003034",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
+ "UBERON:0000020",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
+ "UPHENO:0033607",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
+ "UBERON:0005983",
+ "UBERON:0001638",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
+ "UPHENO:0080300",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
+ "HP:0410043",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
+ "UBERON:0008001",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
"HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0076805",
- "HP:0002011",
- "UPHENO:0003001",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "UPHENO:0076791",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "UPHENO:0004802",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
+ "UBERON:0007832",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
+ "UBERON:0002049",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
+ "UBERON:0001734",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
+ "HP:0000366",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
+ "UPHENO:0068971",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
"UBERON:0001890",
- "UPHENO:0050106",
- "UPHENO:0005437",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0002352",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002308",
- "UPHENO:0005433",
- "UPHENO:0002240",
- "UBERON:0000955",
- "UPHENO:0052165",
+ "UBERON:0019221",
+ "UBERON:0012141",
+ "HP:0000268",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
+ "UPHENO:0086628",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
+ "UPHENO:0001025",
+ "UPHENO:0002952",
+ "UPHENO:0086699",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
"UPHENO:0002903",
- "UBERON:0002105",
- "HP:0031704",
- "UPHENO:0002211",
- "GO:0007605",
- "UPHENO:0002267",
- "UPHENO:0080351",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "HP:0002664",
- "HP:0008069",
- "HP:0001045",
- "HP:0011793",
- "HP:0002860",
- "GO:0060255",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050007",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
- "GO:0010556",
- "GO:0009890",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "GO:0031049",
- "GO:0050789",
- "HP:0000581",
- "UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "UPHENO:0075997",
- "UPHENO:0046487",
- "UBERON:0000047",
- "UPHENO:0005319",
- "UPHENO:0075198",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
+ "HP:0033127",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
+ "UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
"HP:0002060",
- "HP:0030669",
- "UPHENO:0069119",
- "HP:0012745",
- "UPHENO:0046753",
- "UBERON:0000970",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001711",
- "UBERON:0001819",
- "UPHENO:0004757",
- "UPHENO:0068914",
- "UPHENO:0046755",
- "UPHENO:0002812",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "GO:0008152",
- "UPHENO:0002643",
- "UPHENO:0076761",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "HP:0012130",
- "UPHENO:0088162",
- "GO:0031327",
- "UBERON:0002199",
- "HP:0001034",
- "HP:0007400",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
"HP:0000957",
- "UPHENO:0003410",
- "HP:0011121",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
+ "UPHENO:0081424",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
+ "UPHENO:0004962",
+ "UBERON:0002204",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
+ "UBERON:0004122",
+ "UPHENO:0002635",
+ "UBERON:0000173",
+ "UPHENO:0076739",
"UPHENO:0003811",
- "UPHENO:0074584",
- "GO:0065007",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "GO:0010605",
- "HP:0001000",
- "UPHENO:0080662",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
+ "UPHENO:0054957",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
+ "BFO:0000015",
+ "GO:0043473",
+ "UPHENO:0002585",
"UPHENO:0004064",
- "HP:0040012",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
"UBERON:0002416",
- "UPHENO:0080377",
- "UPHENO:0002727",
- "UBERON:0001032",
- "UPHENO:0084715",
- "GO:0009889",
- "HP:0000366",
- "UBERON:0034929",
- "UPHENO:0002837",
- "UBERON:0000073",
- "UPHENO:0002722",
- "UPHENO:0050778",
- "UPHENO:0002907",
- "UPHENO:0002005",
- "UPHENO:0001025",
- "UPHENO:0050040",
- "UPHENO:0001217",
- "UBERON:0002268",
- "UPHENO:0082875",
- "UBERON:0012128",
- "UPHENO:0087950",
- "UPHENO:0005518",
- "UPHENO:0001279",
- "UBERON:0007827",
- "UPHENO:0087430",
- "UPHENO:0002962",
- "UBERON:0000466",
- "HP:0000436",
- "UPHENO:0002715",
- "UPHENO:0001134",
- "UPHENO:0001912",
- "UBERON:0006983",
- "UPHENO:0001360",
- "UPHENO:0084727",
- "UPHENO:0026643",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0027017",
- "UPHENO:0025585",
- "UPHENO:0009146",
- "UPHENO:0080325",
- "UPHENO:0026146",
- "UPHENO:0026181",
- "UPHENO:0009020",
- "UPHENO:0009209",
- "UPHENO:0008668",
- "UPHENO:0025587",
- "UPHENO:0009163",
- "UPHENO:0025507",
- "UPHENO:0026010",
- "UPHENO:0025509",
- "UPHENO:0011825",
- "UPHENO:0009382",
- "HP:0100547",
- "UPHENO:0053643",
- "UPHENO:0081451",
- "HP:0000079",
- "UBERON:0003103",
- "UBERON:0010708",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0053588",
- "UPHENO:0002782",
- "UPHENO:0002945",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0046471",
- "BFO:0000141",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0002601",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
+ "UPHENO:0003410",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
+ "UBERON:0010740",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
+ "UPHENO:0081581",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
"UBERON:0003129",
- "HP:0025033",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0002942",
- "UPHENO:0002731",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0088116",
- "UBERON:0007842",
- "HP:0033127",
- "UPHENO:0088168",
- "UPHENO:0002559",
- "UBERON:0004111",
- "UPHENO:0003082",
- "UBERON:0000025",
- "UPHENO:0069163",
- "HP:0009115",
- "UBERON:0002204",
- "UBERON:0011156",
- "UBERON:0000465",
- "UPHENO:0081566",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "GO:0010468",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
+ "UBERON:0006598",
"UBERON:0010758",
- "UPHENO:0075944",
- "UBERON:0004381",
- "UBERON:0005173",
- "UPHENO:0004434",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0003004",
- "UPHENO:0081788",
- "HP:0031816",
- "UBERON:0001456",
- "UPHENO:0081091",
- "UPHENO:0002928",
- "HP:0009121",
- "UBERON:0002417",
- "UPHENO:0075220",
- "HP:0005105",
- "UBERON:0011676",
- "UPHENO:0001072",
- "UPHENO:0002868",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UBERON:0013522",
+ "UBERON:0001486",
"UPHENO:0002949",
- "UPHENO:0002994",
- "UBERON:0003101",
- "HP:0034261",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UBERON:0011137",
- "UPHENO:0002668",
- "UPHENO:0046392",
- "UBERON:0010323",
- "UPHENO:3000000",
- "UPHENO:0069064",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0002523",
- "UPHENO:0000543",
+ "HP:0001367",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
+ "UBERON:0000467",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
+ "UPHENO:0002360",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
+ "HP:0001373",
+ "UBERON:0017672",
+ "HP:0000818",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
+ "UPHENO:0088186",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
+ "UPHENO:0046552",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
"UBERON:0000064",
- "UPHENO:0084448",
- "UPHENO:0002772",
- "HP:0006503",
- "UPHENO:0046396",
- "UPHENO:0002526",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0002750",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
+ "UPHENO:0077391",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
+ "HP:0001053",
+ "UPHENO:0084734",
+ "UPHENO:0049699",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
"UBERON:0000165",
- "UPHENO:0084457",
- "CL:0000000",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UBERON:0000161",
- "UPHENO:0002531",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
+ "UPHENO:0072415",
+ "UPHENO:0069327",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
+ "UPHENO:0002816",
+ "UPHENO:0002553",
"UPHENO:0002650",
- "HP:0000234",
- "HP:0200007",
- "HP:0009118",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
+ "UPHENO:0063558",
+ "HP:0000172",
+ "UPHENO:0002659",
+ "UBERON:0007828",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0005058",
+ "HP:0033353",
"UPHENO:0002732",
- "GO:0050877",
- "UPHENO:0069194",
- "UBERON:0000033",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0005517",
- "UPHENO:0081141",
- "HP:0009826",
- "GO:0042592",
- "UPHENO:0001135",
+ "UBERON:0004456",
"UBERON:0011595",
- "UPHENO:0002940",
- "HP:0009116",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0005177",
+ "UBERON:0002553",
+ "UBERON:0002514",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
"UBERON:0001444",
- "UBERON:0001007",
- "UBERON:0010703",
- "UBERON:0011158",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0053559",
- "UBERON:0000467",
- "UPHENO:0084761",
- "CL:0000458",
- "UPHENO:0046707",
- "UPHENO:0003088",
- "HP:0025031",
- "UPHENO:0046552",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0009601",
- "UPHENO:3000004",
- "UPHENO:0079876",
- "UPHENO:0002550",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0074575",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
+ "HP:0000035",
"HP:0011842",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "CL:0000233",
- "PATO:0000001",
- "UBERON:0002193",
- "BFO:0000040",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0003135",
- "UPHENO:0069562",
- "UBERON:0004768",
- "HP:0001510",
- "UBERON:0007811",
- "UBERON:0012360",
- "UPHENO:0063794",
- "CL:0000219",
- "HP:0011873",
- "UPHENO:0053572",
- "HP:0009122",
- "HP:0020047",
- "UBERON:0002091",
- "UPHENO:0002761",
- "UBERON:0001708",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0003466",
- "UPHENO:0075878",
- "HP:0011821",
- "HP:0001872",
- "HP:0000492",
- "HP:0002817",
- "HP:0025354",
- "HP:0011844",
- "HP:0001876",
- "CL:0001035",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
"UPHENO:0002909",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
+ "UPHENO:0002719",
+ "HP:0010866",
+ "UPHENO:0015277",
+ "UBERON:0000025",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
+ "UBERON:5002544",
+ "HP:0002011",
+ "UBERON:0000479",
+ "HP:0000119",
+ "UPHENO:0063565",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
+ "UBERON:0010741",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
+ "HP:0001871",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
+ "UPHENO:0002713",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
+ "UPHENO:0069047",
+ "UPHENO:0014971",
"UPHENO:0002964",
- "UBERON:0005451",
- "UPHENO:0077391",
- "HP:0011297",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
+ "UBERON:0005893",
+ "UPHENO:0003413",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
+ "HP:0100790",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
+ "UPHENO:0003050",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
"UBERON:0002113",
- "UPHENO:0005104",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0002389",
- "UPHENO:0086700",
- "CL:0000457",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UBERON:0011143",
- "UBERON:0001684",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0002529",
- "UPHENO:0080010",
- "HP:0008050",
- "UPHENO:0003093",
- "CL:0000232",
- "HP:0000119",
- "UPHENO:0075804",
- "UPHENO:0046528",
+ "UBERON:0013702",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
"UBERON:0010000",
- "HP:0009821",
- "UPHENO:0086589",
- "UBERON:0002371",
- "UPHENO:0011498",
- "UBERON:0000061",
- "UPHENO:0002738",
- "CL:0002242",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0003113",
- "UBERON:0002090",
- "UPHENO:0001001",
- "UBERON:0005172",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
+ "UBERON:5102389",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
"UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0083646",
- "UPHENO:0063722",
- "UBERON:0007914",
- "CL:0000225",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0054970",
- "HP:0000414",
- "UBERON:0001440",
- "UBERON:0011216",
- "HP:0012639",
- "UPHENO:0002818",
- "UPHENO:0069327",
- "UPHENO:0088166",
- "UPHENO:0002870",
- "UPHENO:0002967",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0085302",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "CL:0000738",
- "UBERON:0011138",
- "UPHENO:0012308",
- "CL:0000988",
- "UBERON:0000075",
- "UPHENO:0049703",
- "BFO:0000004",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0050954",
- "UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0010313",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0077348",
- "GO:0040007",
- "BFO:0000001",
- "HP:0000252",
- "UBERON:0011159",
- "UPHENO:0012274",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0002104",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
+ "UPHENO:0075902",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
+ "HP:0100760",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
+ "UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
"UPHENO:0046505",
- "UPHENO:0002746",
- "UPHENO:0004625",
- "UPHENO:0002948",
- "HP:0000028",
- "UPHENO:0002988",
- "UPHENO:0077418",
- "HP:0000365",
- "UBERON:0034923",
- "UPHENO:0086172",
- "UBERON:0000479",
- "UPHENO:0002833",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0000079",
"UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0001015",
- "UPHENO:0085344",
- "UPHENO:0069684",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0001873",
- "UPHENO:0011572",
- "CL:0000255",
- "HP:0001871",
- "HP:0000271",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UBERON:0000383",
- "HP:0001939",
- "GO:0043473",
- "HP:0010987",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000019",
- "CL:0002092",
- "UBERON:0002514",
- "UBERON:0001434",
- "UPHENO:0002944",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0081581",
- "HP:0000924",
- "UBERON:0013701",
- "UPHENO:0053644",
- "UPHENO:0002828",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
+ "UPHENO:0002926",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
+ "GO:0048729",
+ "GO:0019953",
+ "UPHENO:0018390",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
+ "UPHENO:0002976",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
+ "UPHENO:0003049",
"UBERON:0004921",
- "HP:0012145",
- "HP:0002692",
- "UPHENO:0080126",
- "UPHENO:0002754",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0000062",
- "HP:0000035",
- "UPHENO:0041075",
- "UPHENO:0026108",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
+ "UBERON:0010323",
"UBERON:0002102",
"HP:0000277",
- "UPHENO:0076703",
- "UBERON:0013765",
- "UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0005008",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002548",
- "HP:0000086",
- "HP:0000153",
- "HP:0006501",
- "UPHENO:0046479",
- "UPHENO:0080087",
- "UPHENO:0002926",
- "UPHENO:0080165",
- "UBERON:0003462",
- "UBERON:0003278",
- "UBERON:0003457",
- "HP:0002977",
- "UBERON:0008907",
- "UPHENO:0002553",
- "UPHENO:0068941",
+ "UPHENO:0087006",
+ "GO:0003008",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
"UPHENO:0049874",
- "UBERON:0010741",
- "UBERON:0002471",
- "UPHENO:0087924",
- "UPHENO:0003005",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
+ "UPHENO:0046405",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
"HP:0100542",
- "UPHENO:0053612",
- "UBERON:0004756",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
- "UPHENO:0069047",
- "HP:0005922",
- "UPHENO:0079872",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0046445",
- "UBERON:0013702",
- "UPHENO:0069046",
- "HP:0009824",
- "UBERON:0004288",
- "HP:0000929",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0004523",
- "UPHENO:0046455",
- "UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
+ "UBERON:0000045",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
"UPHENO:0069030",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UBERON:0001710",
- "UBERON:5002544",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0054957",
- "UBERON:0002495",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0076739",
- "UPHENO:0002733",
- "HP:0005773",
- "UPHENO:0046484",
- "UPHENO:0087349",
- "UBERON:0003460",
- "UPHENO:0002719",
- "UBERON:0007272",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0015021",
- "HP:0003026",
- "UPHENO:0002659",
- "HP:0040068",
- "UPHENO:0069292",
- "UBERON:0004765",
- "UPHENO:0005106",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
"RO:0002577",
- "UBERON:0011249",
- "UBERON:0012475",
- "UBERON:0005156",
- "UBERON:0010712",
- "UPHENO:0081314",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0046465",
- "UBERON:0003606",
- "HP:0001574",
- "UPHENO:0049587",
- "UBERON:0015001",
- "HP:0002715",
- "UPHENO:0002969",
- "HP:0001172",
- "UBERON:0008962",
- "UPHENO:0046472",
- "UPHENO:0046540",
- "UPHENO:0068838",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0003514",
- "UBERON:0000991",
- "UPHENO:0003095",
- "UPHENO:0076718",
- "UBERON:0012141",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0002861",
- "UBERON:0015061",
- "UPHENO:0068912",
- "UPHENO:0046538",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0046403",
- "UPHENO:0075890",
- "UPHENO:0068921",
- "UPHENO:0046405",
- "GO:0008150",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "HP:0045060",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UBERON:0001008",
- "HP:0000077",
- "HP:0032251",
- "HP:0011314",
- "HP:0006496",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "GO:0003008",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0076800",
- "UPHENO:0003227",
- "HP:0002984",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0003607",
- "UBERON:0001423",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0010364",
- "UBERON:0000916",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0012440",
- "HP:0002973",
- "UBERON:0004456",
- "UPHENO:0068932",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0053647",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
"UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0003056",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0003085",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "HP:0010938",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
"UBERON:0015212",
- "HP:0000078",
- "UPHENO:0002685",
- "UPHENO:0005025",
- "HP:0000811",
- "UPHENO:0049775",
- "UPHENO:0000541",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "HP:0010461",
- "UPHENO:0002642",
- "HP:0001507",
- "HP:0012243",
- "UPHENO:0002971",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
"UBERON:0010538",
- "UPHENO:0053566",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
+ "UBERON:0000062",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
+ "HP:0000079",
+ "UBERON:0012358",
+ "UPHENO:0003432",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
+ "UPHENO:0076703",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
"UPHENO:0041821",
- "HP:0000032",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0012733",
- "UBERON:0002544",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "CL:0000763",
- "UPHENO:0003069",
- "HP:0000347",
- "HP:0011927",
- "UPHENO:0087427",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0081786",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
"UPHENO:0086595",
- "UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UBERON:0001460",
- "UBERON:0019221",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0076803",
- "HP:0030791",
- "UPHENO:0003094",
- "HP:0010935",
- "UBERON:0001474",
- "UPHENO:0002803",
- "HP:0000598",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UBERON:0000004",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0002632",
- "UBERON:0000489",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002803",
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518",
],
"has_phenotype_closure_label": [
- "Vitiligo",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
+ "Hypopigmented skin patches",
+ "serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "decreased number of cell",
+ "nucleate cell",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
+ "Abnormal immune system morphology",
+ "number of hematopoietic cell phenotype",
+ "decreased number of anatomical structure",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
+ "metabolic process",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
+ "Abnormal erythrocyte morphology",
+ "erythroid lineage cell morphology phenotype",
+ "blood cell phenotype",
+ "Anemia of inadequate production",
+ "blood cell",
+ "erythrocyte differentiation",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormal cerebral morphology",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
+ "cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
+ "Scoliosis",
+ "Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "immune system phenotype",
+ "cellular developmental process",
+ "Recurrent urinary tract infections",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
+ "absent anatomical entity in the semen",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
+ "absent gamete",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
+ "male reproductive organ physiology phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "localised gonad",
+ "male urethral meatus",
+ "urethra phenotype",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
+ "urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
+ "Abnormal ureter morphology",
+ "Hydroureter",
+ "excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
+ "reproductive structure physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
+ "incomplete closing of the ectoderm-derived structure",
+ "incomplete closing of the neural crest-derived structure",
+ "incomplete closing of the multi-tissue structure",
+ "incomplete closing of the secondary palate",
+ "increased height of the anatomical entity",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
+ "increased height of the secondary palate",
+ "cerebrospinal fluid",
+ "cerebrospinal fluid phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
+ "increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
+ "increased length of the anatomical structure",
+ "zone of skin",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "anatomical line phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "non-material anatomical boundary phenotype",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
+ "asymmetry of face phenotype",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "dentary",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
+ "jaw skeleton morphology phenotype",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception of mechanical stimulus phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
+ "olfactory system",
+ "chemosensory system",
+ "shape anatomical entity",
+ "naris atresia",
+ "naris",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
+ "cornea phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "incomplete closing of the organ",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
+ "decreased sensory perception of sound",
+ "asymmetrically curved anatomical entity",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
+ "Strabismus",
+ "decreased qualitatively sensory perception of light stimulus",
+ "skeleton of limb phenotype",
+ "sensory perception",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
+ "opaque lens of camera-type eye",
+ "lens of camera-type eye morphology phenotype",
+ "anatomical entity height phenotype",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
+ "transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
+ "protruding eyeball of camera-type eye",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
+ "palpebral fissure",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
+ "cranial nerve related reflex",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
+ "Nystagmus",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
+ "camera-type eye",
+ "Abnormality of the uterus",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
+ "internal female genitalia",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
+ "bicornuate uterus",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
+ "hypothalamus-pituitary axis",
+ "manual digit 1 morphology phenotype",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "manual digit 1",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
+ "phalanx of manus",
+ "nervous system process",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
+ "gland phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
+ "multi organ part structure phenotype",
+ "gland",
+ "decreased developmental process",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organismal process phenotype",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Growth delay",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
+ "umbilicus morphology phenotype",
+ "tissue phenotype",
+ "herniated abdominal wall",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
+ "Hernia of the abdominal wall",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
+ "amniotic fluid",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
+ "organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
+ "organism substance",
+ "late embryo phenotype",
+ "Abnormality of the amniotic fluid",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
+ "late embryo",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
+ "incomplete closing of the interatrial septum",
+ "cardiac septum morphology phenotype",
+ "Abnormal atrial septum morphology",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
+ "Conotruncal defect",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "orbital region phenotype",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the myocardium",
+ "heart layer morphology phenotype",
+ "heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
+ "organ part physiology phenotype",
+ "decreased functionality of the organ part",
+ "myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
+ "mesoderm-derived structure physiology phenotype",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
+ "incomplete closing of the thoracic segment blood vessel",
+ "conceptus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
+ "incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
+ "anatomical entity morphology in the heart phenotype",
+ "uterus morphology phenotype",
+ "valve",
+ "anatomical structure",
+ "heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
+ "left cardiac chamber phenotype",
+ "Abnormality of the immune system",
+ "circulatory organ",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
+ "thoracic cavity blood vessel phenotype",
+ "great vessel of heart",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
+ "longitudinal arch of pes",
+ "flat longitudinal arch of pes",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
+ "fused pedal digit and anatomical entity",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
+ "Decreased multicellular organism mass",
+ "anatomical entity mass phenotype",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
+ "Growth abnormality",
+ "organ subunit",
+ "forebrain",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
+ "Abnormality of the ocular adnexa",
+ "tetrapod frontal bone morphology phenotype",
+ "limb bone",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
+ "increased pigmentation",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
+ "dermatocranium",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
+ "cranium",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
+ "anus",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
+ "olfactory organ phenotype",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
+ "increased size of the material anatomical entity",
"Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
"brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "increased size of the ectoderm-derived structure",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
+ "increased length of the skin of head",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
+ "epithelial tube",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
+ "tracheobronchial tree",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
+ "Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
+ "intromittent organ",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
"regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
+ "primary subdivision of skull phenotype",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
"decreased biological_process",
- "sensory perception",
- "Abnormality of the ear",
- "nervous system process",
- "decreased sensory perception",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
+ "femur",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
+ "decreased size of the multicellular anatomical structure",
"Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
- "camera-type eye",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "deviation of manual digit 5 towards the middle",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
"decreased size of the ectoderm-derived structure",
- "multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
- "orbital region phenotype",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
+ "decreased length of long bone",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "pes bone phenotype",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
+ "ulna hypoplasia",
+ "abdomen element physiology phenotype",
"system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ear phenotype",
- "increased pigmentation",
- "Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
- "olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
- "Macule",
- "anatomical point",
- "increased size of the material anatomical entity",
- "pigmentation phenotype",
- "increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
"decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
+ "subdivision of skeleton",
"decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
- "negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
"Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
"axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Clinodactyly of the 5th finger",
"endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
"lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
- "anucleate cell",
- "dentary",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
- "Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
- "Chromosome breakage",
- "Abnormal platelet count",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
"musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
- "integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
- "decreased size of the anatomical structure",
- "bone of lower jaw",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
- "growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
- "localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
+ "multicellular organism",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
+ "abdomen element",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
+ "All",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
+ "manus phenotype",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
"Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
- "arm bone phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
- "hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
+ "external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "homeostatic process",
+ "zone of skin morphology phenotype",
+ "autopod bone",
"musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
- "camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
- "Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
+ "biological_process phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
"manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
+ "eyelid",
+ "sloped anatomical entity",
+ "decreased size of the forelimb bone",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
+ "Abnormality of skin pigmentation",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
"multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
+ "skin of body",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
+ "skin of body phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "developing anatomical structure",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
+ "arterial system",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
+ "abdominal segment element phenotype",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
+ "Syndactyly",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
+ "digit 5 plus metapodial segment",
+ "multicellular organism phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
+ "subdivision of trunk",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
"anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
- "digit 1 or 5 phenotype",
- "dermatocranium phenotype",
- "localised multicellular anatomical structure",
- "platelet",
- "primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
- "limb segment",
- "decreased height of the multicellular organism",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
"Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
+ "shape digit",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
+ "Lower extremity joint dislocation",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
+ "localised testis",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "leukocyte",
+ "Finger syndactyly",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal thumb morphology",
"compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
- "forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
+ "Abnormality of the testis size",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
+ "Abnormality of the skin",
+ "nervous system",
+ "secretory cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
"Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
"abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "pectoral appendage skeleton",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
"forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
"anatomical entity morphology phenotype",
- "forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
- "absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
+ "integument",
+ "localised material anatomical entity",
+ "decreased length of endochondral bone",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
+ "tube closure",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
"Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
- "digestive system element",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
"pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
- "arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
+ "arm bone phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
"decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
+ "Abnormality of movement",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
"renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
+ "deviation of manual digit 5",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
+ "incomplete closing of the anatomical structure",
+ "musculature phenotype",
+ "forelimb zeugopod bone",
+ "opening of the anatomical entity",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
+ "renal system phenotype",
+ "multicellular anatomical structure phenotype",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
+ "intromittent organ phenotype",
"limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
+ "anatomical structure mass phenotype",
+ "appendicular skeleton",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
+ "parasympathetic nervous system",
+ "Abnormality of the hand",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
+ "Abnormal shape of the frontal region",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
+ "tunica fibrosa of eyeball",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
+ "central nervous system gray matter layer phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
+ "Sloping forehead",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
+ "anatomical entity physiology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
+ "tube phenotype",
+ "forelimb skeleton",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
+ "hemopoiesis",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
+ "abdominal segment element",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
+ "limb",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
+ "trunk phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
+ "Decreased fertility in males",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
+ "anatomical conduit phenotype",
+ "Abnormal foot morphology",
+ "digestive system element",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
"craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
"Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
- "renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
"reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
- "aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
- "integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
- "Growth delay",
- "biological_process",
- "entity",
+ "mesoderm-derived structure phenotype",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
"subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
"growth",
- "regulation of gene expression phenotype",
- "increased size of the olfactory organ",
- "delayed biological_process",
- "delayed growth",
- "abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
+ "aplasia or hypoplasia of skull",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
+ "organ",
+ "pedal digit bone",
+ "autopod endochondral element",
+ "trunk region element",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
+ "mesoderm-derived structure",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
+ "skeletal joint dislocation",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
+ "nervous system cell part layer",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal enteric nervous system morphology",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
+ "Abnormality of the forehead",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
+ "homeostatic process phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
+ "neural tube",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
+ "embryo phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
+ "decreased size of the anatomical structure",
+ "Abnormal nasal morphology",
+ "Abnormality of the cardiovascular system",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
+ "alimentary part of gastrointestinal system",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
+ "pes bone",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
"Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
- "localised abdomen element",
- "abdominal segment element phenotype",
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
+ "Abnormal skull morphology",
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype",
],
- "has_phenotype_count": 20,
+ "has_phenotype_count": 106,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi anemia complementation group O",
"full_name": None,
"deprecated": None,
- "description": None,
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
"HP:0004322",
- "HP:0003126",
- "HP:0001324",
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023",
],
"has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
"Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia",
],
"has_phenotype_closure": [
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
+ "UBERON:0000481",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0002548",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
"UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0000002",
"UPHENO:0080352",
"UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "GO:0008150",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
+ "GO:0005623",
+ "UPHENO:0050040",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UPHENO:0049757",
+ "GO:0010629",
+ "UPHENO:0002411",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
+ "UBERON:0010314",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
+ "UBERON:0001442",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
+ "UPHENO:0003415",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
+ "UPHENO:0086635",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0002813",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
"UPHENO:0068971",
+ "UPHENO:0068838",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
+ "GO:0009890",
+ "UPHENO:0046741",
+ "RO:0002577",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
"UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
+ "UBERON:0010538",
+ "UPHENO:0080079",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
+ "HP:0040012",
+ "UPHENO:0046397",
+ "UPHENO:0001001",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
+ "UPHENO:0046445",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
"UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
- "CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:33575",
- "UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
+ "UPHENO:0084834",
+ "UPHENO:0046426",
+ "HP:0011314",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UBERON:0003103",
+ "UPHENO:0069030",
+ "HP:0011017",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
+ "UPHENO:0049620",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0050784",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
"UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
"HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
+ "HP:0002818",
+ "UPHENO:0074335",
"BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
- "HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
"GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
- "HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
- "UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
"UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
"UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0049868",
+ "UPHENO:0012312",
+ "UBERON:0013702",
+ "UPHENO:0005214",
+ "UBERON:0034923",
"UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
+ "UPHENO:0002926",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
"UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
+ "UPHENO:0001303",
"UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
- "UPHENO:0048707",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
"UBERON:0000489",
- "UPHENO:0068110",
- "HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UBERON:0001062",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
+ "UPHENO:0002526",
"UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964",
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
+ "HP:0040064",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
+ "UPHENO:0002963",
],
"has_phenotype_closure_label": [
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
"muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "negative regulation of biological process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
"muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
+ "ectoderm-derived structure",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "male reproductive organ phenotype",
+ "anatomical structure physiology phenotype",
+ "male reproductive organ",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
+ "anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
+ "Renal insufficiency",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
"Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
"decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
"renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
"abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "viscus",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
"abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
"lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "musculoskeletal system",
+ "long bone",
+ "skeleton",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
+ "organism subdivision phenotype",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "decreased length of digit 1 or 5",
+ "appendicular skeletal system",
+ "Abnormality of the musculature of the upper limbs",
+ "endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "Abnormal cellular phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
+ "decreased length of multicellular anatomical structure",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
"All",
- "Abnormal urine protein level",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
+ "growth",
"organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
+ "multicellular organism morphology phenotype",
+ "forelimb zeugopod morphology phenotype",
"material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
"homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
"Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
+ "trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
+ "material anatomical entity phenotype",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
"multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "disconnected anatomical group",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
+ "subdivision of trunk phenotype",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
+ "anatomical entity",
+ "compound organ",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
+ "organ",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
+ "multicellular anatomical structure",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
"size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "renal system",
"Abnormal skeletal morphology",
- "ossification",
- "carbohydrate",
- "skeletal system",
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
+ "decreased height of the multicellular organism",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 15,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group P",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
+ "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
+ "HP:0001876",
+ "HP:0000347",
+ "HP:0009778",
+ "HP:0001510",
+ "HP:0000414",
+ "HP:0000957",
"HP:0001903",
+ "HP:0012745",
+ "HP:0000085",
+ "HP:0003221",
"HP:0004322",
+ "HP:0000365",
"HP:0000252",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0000125",
+ "HP:0009777",
+ "HP:0000581",
+ "HP:0002860",
+ "HP:0001045",
],
"has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
+ "Pancytopenia",
+ "Micrognathia",
+ "Short thumb",
+ "Growth delay",
+ "Bulbous nose",
+ "Cafe-au-lait spot",
"Anemia",
+ "Short palpebral fissure",
+ "Horseshoe kidney",
+ "Chromosomal breakage induced by crosslinking agents",
"Short stature",
+ "Hearing impairment",
"Microcephaly",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Pelvic kidney",
+ "Absent thumb",
+ "Blepharophimosis",
+ "Squamous cell carcinoma",
+ "Vitiligo",
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
+ "UPHENO:3000003",
+ "HP:0012733",
+ "HP:0008069",
+ "HP:0002664",
+ "HP:0011793",
+ "HP:0000581",
+ "UPHENO:0011825",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0068941",
+ "UPHENO:0009209",
+ "GO:0031049",
+ "UPHENO:0026010",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0009163",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "HP:0000414",
+ "UPHENO:0011531",
+ "UPHENO:0025507",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0008523",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "HP:0009777",
+ "UPHENO:0053588",
+ "UBERON:0001007",
+ "UPHENO:0053601",
+ "HP:0000125",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0053610",
+ "UPHENO:0053633",
+ "HP:0000086",
+ "UBERON:0003101",
+ "UPHENO:0053644",
+ "HP:0012243",
+ "UPHENO:0002868",
+ "UPHENO:0002523",
+ "UBERON:0000079",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "HP:0010461",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0003055",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UPHENO:0008548",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "UPHENO:0002832",
+ "HP:0003026",
+ "UPHENO:0005016",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "HP:0006503",
+ "UPHENO:0086589",
+ "UPHENO:0046460",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "HP:0002973",
+ "UPHENO:0046465",
+ "UBERON:0002199",
+ "HP:0009824",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0068838",
+ "UPHENO:0081314",
+ "UBERON:0002386",
+ "UPHENO:0076718",
+ "UBERON:0000479",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0004173",
+ "HP:0002818",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UBERON:0010703",
+ "UPHENO:0046405",
+ "HP:0011314",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "UPHENO:0069030",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "UPHENO:0068839",
+ "UPHENO:0026146",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "UPHENO:0004595",
+ "UPHENO:0069064",
+ "HP:0009380",
+ "UPHENO:0002715",
+ "HP:0007364",
+ "UPHENO:0002866",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "UBERON:0000481",
+ "HP:0000707",
+ "UPHENO:0004521",
+ "UPHENO:0081788",
"UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
+ "UPHENO:0004621",
+ "HP:0000811",
+ "HP:0012639",
+ "UBERON:0000955",
+ "UBERON:0001017",
+ "HP:0000240",
+ "UBERON:0012141",
+ "UPHENO:0046403",
+ "UBERON:0001890",
+ "UPHENO:0080187",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "GO:0050789",
+ "UPHENO:0053632",
+ "UPHENO:0076754",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0052161",
+ "GO:0050954",
+ "UPHENO:0046479",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0052178",
+ "UBERON:0003135",
+ "UPHENO:0082875",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UPHENO:0046753",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005596",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0005513",
+ "UPHENO:0075159",
+ "UPHENO:0080351",
+ "UPHENO:0081424",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "HP:0003220",
+ "HP:0200007",
+ "HP:0002860",
+ "UPHENO:0002352",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0009020",
+ "GO:0009987",
+ "UPHENO:0081313",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "UBERON:0003607",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UPHENO:0002812",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "UBERON:0008907",
+ "UPHENO:0080114",
+ "HP:0000957",
+ "GO:0048523",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UBERON:0005177",
+ "UBERON:0001008",
+ "HP:0002060",
+ "HP:0100542",
+ "UBERON:0000489",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0003088",
+ "UBERON:0000383",
+ "UPHENO:0087427",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UBERON:0010741",
+ "GO:0065007",
+ "UPHENO:0076800",
+ "HP:0010935",
+ "UPHENO:0011536",
+ "HP:0031704",
+ "UPHENO:0075902",
+ "HP:0012210",
+ "UPHENO:0002642",
+ "UPHENO:0003065",
+ "UPHENO:0041821",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "UBERON:0035639",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UPHENO:0046487",
+ "UPHENO:0086635",
+ "UPHENO:0046755",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003410",
+ "UPHENO:0076941",
+ "UPHENO:0049699",
+ "UPHENO:0075198",
+ "UBERON:0005156",
+ "UBERON:0000970",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UBERON:0034921",
+ "UPHENO:0069562",
+ "UPHENO:0001001",
+ "HP:0000492",
+ "HP:0012745",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "UBERON:0006983",
+ "UBERON:0004088",
+ "UPHENO:0050008",
+ "UBERON:0001711",
+ "UPHENO:0026506",
+ "UBERON:0004710",
+ "HP:0002984",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0005433",
+ "UBERON:0001819",
+ "UBERON:0000019",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UPHENO:0003085",
+ "UPHENO:0075878",
+ "UPHENO:0052231",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "UPHENO:0002643",
+ "UPHENO:0009382",
+ "GO:0003008",
+ "UPHENO:0080010",
+ "HP:0001034",
+ "UPHENO:0005092",
+ "UPHENO:0002635",
+ "UPHENO:0076739",
+ "UPHENO:0053643",
+ "UPHENO:0003811",
+ "UPHENO:0074575",
+ "CL:0000232",
+ "GO:0043473",
+ "UPHENO:0004064",
+ "UPHENO:0002751",
+ "UPHENO:0069254",
+ "HP:0011355",
+ "CL:0000081",
+ "UBERON:0002416",
+ "HP:0000953",
+ "UPHENO:0041226",
+ "UPHENO:0046396",
+ "UPHENO:0074584",
+ "UPHENO:0002632",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "UPHENO:0002940",
+ "UBERON:0001032",
+ "UPHENO:0002559",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UPHENO:0001360",
+ "UPHENO:0050065",
+ "HP:0001167",
+ "BFO:0000141",
+ "UBERON:0000466",
+ "HP:0000002",
+ "UPHENO:0002907",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "UPHENO:0087430",
+ "HP:0000436",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UPHENO:0002945",
+ "UBERON:0002268",
+ "UPHENO:0084727",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0001303",
+ "UBERON:0004768",
+ "HP:0000118",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "UPHENO:0088168",
+ "UBERON:0012128",
+ "UPHENO:0002903",
+ "UPHENO:0001025",
+ "HP:0010938",
+ "UPHENO:0005106",
+ "UPHENO:0001912",
+ "UPHENO:0001135",
+ "UPHENO:0081204",
+ "UBERON:0034929",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0049587",
+ "UPHENO:0003001",
+ "UPHENO:0002597",
+ "UPHENO:0002727",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
"UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UBERON:0002405",
+ "UPHENO:0002722",
+ "HP:0001507",
+ "UPHENO:0046455",
+ "UPHENO:0052165",
+ "UPHENO:0069292",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "UPHENO:0076803",
+ "UPHENO:0046594",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0080325",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0001279",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "UBERON:0015061",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0069684",
+ "UBERON:0002398",
+ "HP:0000951",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "UBERON:0000990",
"UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0002389",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UPHENO:0002837",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0046392",
+ "UPHENO:0002651",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0002736",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0003095",
+ "UPHENO:0068971",
+ "UPHENO:0002782",
+ "HP:0040068",
+ "UBERON:0000020",
+ "UBERON:0002097",
+ "HP:0040064",
+ "UPHENO:0002005",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0012354",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0002962",
+ "UBERON:0002513",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "HP:0000364",
+ "RO:0002577",
+ "UBERON:0010740",
+ "GO:0009890",
+ "UPHENO:0046741",
+ "UPHENO:0046445",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UPHENO:0081423",
+ "UBERON:0010538",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "UPHENO:0069125",
+ "CL:0000000",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UBERON:0001423",
+ "UBERON:0007914",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UBERON:0007272",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0068914",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "UBERON:0007811",
+ "HP:0045060",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UBERON:0010758",
+ "UPHENO:0075997",
+ "HP:0000315",
+ "UPHENO:0002944",
+ "HP:0000366",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0011297",
+ "UBERON:0034923",
+ "UBERON:0004742",
+ "UPHENO:0002733",
+ "HP:0008050",
+ "UPHENO:0046397",
+ "UBERON:0015212",
+ "HP:0006496",
+ "HP:0005927",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "UBERON:0003606",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UBERON:5002389",
+ "UPHENO:0012440",
+ "UPHENO:0002586",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0046483",
+ "UBERON:0000153",
+ "UPHENO:0069163",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0001000",
+ "CL:0000763",
+ "UPHENO:0068921",
+ "UBERON:0000025",
+ "UPHENO:0004909",
+ "UPHENO:0002600",
+ "UPHENO:0002761",
+ "UPHENO:0088186",
+ "UBERON:0013765",
+ "UPHENO:0003056",
+ "UPHENO:0080087",
+ "UPHENO:0002942",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "UPHENO:0086595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UBERON:0012139",
+ "UBERON:0003462",
"HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "HP:0040070",
+ "UPHENO:0003025",
+ "UPHENO:0005518",
+ "UBERON:0001444",
+ "UPHENO:0069194",
+ "UBERON:0002104",
+ "UBERON:0004288",
+ "UBERON:0001440",
+ "UPHENO:0053612",
+ "UPHENO:0002963",
+ "HP:0000028",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UPHENO:0002746",
+ "UPHENO:0011498",
+ "UPHENO:0076761",
+ "HP:0005922",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0002553",
"UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
+ "UPHENO:0002554",
+ "UPHENO:0069328",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UBERON:0000467",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UPHENO:0002910",
+ "UPHENO:0002928",
+ "UPHENO:0084715",
+ "UPHENO:0046411",
+ "UBERON:0011158",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0005881",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "UPHENO:0002682",
+ "UBERON:0012475",
+ "UBERON:0011137",
+ "UPHENO:0002828",
+ "UBERON:0002495",
+ "UBERON:0001555",
+ "UBERON:0010000",
+ "UPHENO:0086956",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0001134",
+ "UPHENO:0005058",
"UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
+ "HP:0009115",
"UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
+ "UPHENO:0087349",
+ "UPHENO:0025587",
+ "UPHENO:0001217",
+ "HP:0011821",
+ "UBERON:0000004",
+ "HP:0000924",
+ "UPHENO:0052160",
"HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
- "UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0080351",
+ "UBERON:0010314",
+ "HP:0006265",
+ "UBERON:0013701",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "UPHENO:0002838",
"CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
- "UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
- "UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
- "HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
- "BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
- "UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
"UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
+ "CL:0000255",
+ "UBERON:0000473",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UPHENO:0002772",
+ "UPHENO:0084457",
+ "UBERON:0002113",
+ "UBERON:0011156",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0002764",
+ "GO:0010629",
+ "UBERON:0000465",
+ "HP:0000271",
"UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
+ "UPHENO:0012274",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UBERON:0002514",
+ "UPHENO:0002818",
+ "HP:0005105",
+ "UPHENO:0002694",
+ "UPHENO:0081091",
"UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
+ "CL:0000219",
+ "UPHENO:0068932",
+ "UPHENO:0004802",
+ "UPHENO:0087924",
+ "UBERON:0007842",
+ "HP:0002977",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "UPHENO:0005008",
+ "UPHENO:0088162",
+ "UPHENO:0002550",
+ "NCBITaxon:6072",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0000347",
+ "HP:0011927",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UPHENO:0002593",
+ "HP:0006501",
+ "HP:0001045",
+ "UPHENO:0005097",
+ "HP:0009116",
+ "UPHENO:0002526",
+ "UBERON:0011595",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "HP:0000234",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0006058",
+ "HP:0000085",
+ "UPHENO:0054957",
+ "HP:0012145",
+ "BFO:0000003",
+ "UBERON:0010313",
+ "UBERON:0001434",
+ "UPHENO:0002548",
+ "UPHENO:0069119",
+ "HP:0030791",
+ "UPHENO:0083646",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UBERON:0010708",
+ "UBERON:0000061",
+ "CL:0000233",
+ "HP:0040012",
+ "UPHENO:0003432",
+ "UPHENO:0025509",
+ "GO:0050877",
+ "HP:0001903",
+ "UBERON:0000475",
+ "UBERON:0002371",
+ "UPHENO:0005517",
+ "UPHENO:0005104",
+ "UBERON:0011216",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0012360",
+ "UPHENO:0002531",
+ "HP:0009601",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002880",
+ "UBERON:0003457",
+ "UPHENO:0004625",
+ "UPHENO:0002926",
+ "UPHENO:0003069",
+ "UPHENO:0076727",
+ "UBERON:0008962",
+ "HP:0030669",
+ "UPHENO:0002668",
+ "UBERON:0001708",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "GO:0010605",
+ "CL:0002092",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "HP:0011121",
+ "UBERON:0010912",
+ "UPHENO:0086633",
+ "UPHENO:0002861",
+ "HP:0000001",
+ "HP:0001172",
"UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
- "CL:0000763",
- "UPHENO:0081547",
- "HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
"CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
- "NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
- "UPHENO:0080010",
- "HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
+ "UPHENO:0002754",
+ "UPHENO:0075890",
+ "UBERON:0007827",
+ "UPHENO:0002909",
+ "UPHENO:0087950",
+ "HP:0000252",
+ "UBERON:0004456",
+ "UPHENO:0002595",
"HP:0040195",
- "UPHENO:0002816",
+ "HP:0009815",
"UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
- "UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
- "UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
- "UPHENO:0005092",
- "UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
- "UPHENO:0050007",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
+ "UBERON:0001684",
+ "BFO:0000004",
+ "HP:0009122",
"UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
- "HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
+ "UPHENO:0003004",
"GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
+ "UPHENO:0004494",
+ "UPHENO:0025585",
+ "CL:0000225",
+ "UPHENO:0003227",
+ "UPHENO:0053566",
+ "BFO:0000002",
+ "UPHENO:0052159",
+ "UPHENO:0005214",
+ "UPHENO:0076692",
+ "UPHENO:0053647",
+ "HP:0009381",
+ "UPHENO:0002536",
+ "UPHENO:0050063",
+ "UBERON:0001062",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "UBERON:0004375",
"GO:0042592",
- "GO:0008152",
- "CHEBI:51143",
+ "UBERON:0004381",
+ "UPHENO:0012308",
+ "UPHENO:0002648",
+ "UBERON:0000033",
"UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
- "HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
- "GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
- "UPHENO:0078606",
- "GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
- "UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
- "UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
- "UPHENO:0050778",
- "UPHENO:0086172",
- "GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
- "UBERON:0000153",
- "UPHENO:0002536",
- "GO:0009890",
- "HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
- "HP:0040012",
- "UPHENO:0049620",
- "UPHENO:0075804",
- "CL:0000232",
- "GO:0040007",
- "GO:0048519",
- "UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
- "UPHENO:0050784",
- "GO:0010629",
- "UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
- "UPHENO:0088162",
- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002",
+ "UPHENO:0002568",
+ "UPHENO:0046471",
+ "UPHENO:0002988",
+ "UPHENO:0080352",
+ "HP:0005561",
+ "UPHENO:0005512",
+ "UBERON:0001474",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
+ "autopodial extension phenotype",
+ "Neoplasm by anatomical site",
+ "neoplasm phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent anatomical entity in the forelimb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "jaw region",
+ "Finger aplasia",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "absent multicellular anatomical structure",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "localised trunk region element",
+ "aplasia or hypoplasia of anatomical entity",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "localised abdomen element",
+ "reproductive organ",
+ "localised anatomical entity",
+ "localised male reproductive organ",
"Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
+ "location of anatomical entity phenotype",
+ "reproductive system phenotype",
+ "localised testis",
+ "external genitalia phenotype",
+ "Abnormal reproductive system morphology",
+ "localised anatomical structure",
+ "Abnormal external genitalia",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "Abnormality of the male genitalia",
+ "aplasia or hypoplasia of radius bone",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "long bone morphology phenotype",
+ "jaw skeleton",
+ "decreased size of the endochondral element",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "zeugopod",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "limb long bone morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "male reproductive system",
+ "decreased size of the arm bone",
+ "anatomical conduit",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "decreased length of arm bone",
+ "regulation of metabolic process",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "Forearm undergrowth",
+ "decreased length of anatomical entity",
+ "radius bone hypoplasia",
+ "decreased length of long bone",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "forelimb zeugopod",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "decreased length of bone of pectoral complex",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "zeugopod phenotype",
+ "forelimb bone phenotype",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
+ "decreased size of the organ",
+ "radius bone",
+ "arm bone phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
"telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
+ "Abnormality of the nervous system",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Pelvic kidney",
+ "upper urinary tract",
+ "male organism",
"multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
+ "Abnormal cerebral morphology",
+ "decreased length of forelimb bone",
+ "forebrain",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "Abnormality of skull size",
+ "Eumetazoa",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "brain",
+ "Abnormal upper limb bone morphology",
"regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
"central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
"telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
+ "localised multicellular anatomical structure",
+ "Abnormal cellular phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "regional part of nervous system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "digit phenotype",
+ "system process phenotype",
+ "Growth abnormality",
+ "decreased qualitatively nervous system process",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Hearing abnormality",
+ "nervous system process",
+ "nervous system process phenotype",
+ "testis phenotype",
+ "multicellular organismal process phenotype",
+ "multicellular anatomical structure",
+ "sense organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "main body axis",
+ "sensory perception of sound",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "digit",
+ "increased size of the anatomical structure",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "size of skull phenotype",
+ "primary subdivision of skull",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "ear",
+ "decreased qualitatively system process",
+ "gonad phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "radius bone phenotype",
+ "primary subdivision of skull phenotype",
+ "regional part of nervous system",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "sensory perception of sound phenotype",
+ "ear phenotype",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "skeleton",
+ "Short stature",
+ "subdivision of skeletal system",
+ "Abnormality of body height",
+ "neural crest-derived structure",
+ "anatomical point phenotype",
+ "decreased height of the multicellular organism",
+ "localised lateral structure",
+ "absent material anatomical entity in the limb",
+ "multicellular organism height phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "negative regulation of cellular process phenotype",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process",
+ "decreased length of limb bone",
+ "negative regulation of biological process",
+ "anucleate cell",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
+ "Abnormal testis morphology",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "localised reproductive structure",
+ "homeostatic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "eyelid",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of cellular process",
"biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
+ "decreased length of mesoderm-derived structure",
+ "trunk phenotype",
+ "dermal skeleton",
+ "limb long bone",
+ "decreased length of digit 1 or 5",
+ "Abnormality of the upper urinary tract",
+ "Microcephaly",
+ "biological_process",
+ "Abnormality of the kidney",
+ "increased pigmentation",
+ "sensory perception phenotype",
+ "abdominal segment of trunk",
+ "genitourinary system",
+ "3-D shape anatomical entity",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "male organism phenotype",
+ "Chromosome breakage",
+ "genitourinary system phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "subdivision of trunk",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal renal morphology",
+ "renal system",
+ "renal system morphology phenotype",
+ "decreased length of manual digit",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "decreased system process",
+ "bone of jaw",
+ "abdominal segment element",
+ "compound organ phenotype",
+ "trunk region element phenotype",
+ "abdomen element phenotype",
+ "decreased length of ectoderm-derived structure",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "orifice phenotype",
+ "central nervous system morphology phenotype",
+ "ocular adnexa phenotype",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "Abnormality of the orbital region",
+ "camera-type eye",
+ "eyelid phenotype",
+ "decreased sensory perception of sound",
+ "multi organ part structure phenotype",
+ "decreased length of orifice",
+ "Ectopic kidney",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "decreased length of palpebral fissure",
+ "forelimb skeleton phenotype",
+ "eye",
+ "decreased biological_process",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "immaterial anatomical entity",
+ "decreased size of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "growth",
+ "external nose phenotype",
+ "reproductive structure phenotype",
+ "skeletal element",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "Abnormal size of the palpebral fissures",
+ "localised compound organ",
+ "arm bone",
+ "Abnormal ocular adnexa morphology",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "decreased size of the orifice",
+ "Anemia",
+ "erythroid lineage cell morphology phenotype",
+ "absent autopodial extension",
+ "decreased length of digit 1",
+ "erythrocyte morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal forearm morphology",
"anatomical entity morphology phenotype",
+ "integument",
+ "Abnormal long bone morphology",
+ "increased biological_process in skin of body",
+ "Metazoa",
+ "Blepharophimosis",
+ "increased qualitatively biological_process",
+ "nervous system",
+ "Abnormality of the skin",
+ "localised cavitated compound organ",
+ "Cafe-au-lait spot",
+ "decreased size of the mesoderm-derived structure",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "absent anatomical structure in the forelimb",
+ "pigmentation phenotype",
+ "biological_process rate phenotype",
+ "sensory system",
+ "decreased length of manual digit 1",
+ "orifice",
+ "Abnormality of the face",
+ "increased size of the sense organ",
+ "Abnormal erythrocyte morphology",
+ "external nose morphology phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Bulbous nose",
+ "bone of craniocervical region",
+ "increased size of the olfactory organ",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "increased size of the organ",
+ "increased volume of anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "anatomical point",
+ "head phenotype",
+ "absent material anatomical entity in the forelimb",
+ "cellular organisms",
+ "nose phenotype",
+ "increased size of the nose",
+ "Micrognathia",
+ "renal system phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "increased size of the organism subdivision",
+ "phenotypic effect",
+ "entire sense organ system",
+ "negative regulation of biosynthetic process",
+ "nose",
+ "decreased size of the limb bone",
+ "limb bone phenotype",
+ "olfactory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal nasal tip morphology",
+ "external soft tissue zone",
+ "organ phenotype",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "pectoral appendage skeleton phenotype",
+ "manual digit phenotype",
+ "sense organ",
+ "arm",
+ "Abnormal limb bone morphology",
+ "decreased length of skeletal element",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "increased volume of nose",
"brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
+ "biological_process phenotype",
+ "decreased size of the forelimb bone",
+ "process",
+ "segment of manus",
+ "Vitiligo",
+ "Growth delay",
+ "Neoplasm",
"delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
+ "decreased size of the limb endochondral element",
+ "membrane bone phenotype",
+ "decreased length of anatomical conduit",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "telencephalon phenotype",
+ "digit 1 or 5",
+ "subdivision of organism along appendicular axis",
"Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal localization of kidney",
+ "Aplasia/hypoplasia of the extremities",
"oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
+ "bone of appendage girdle complex phenotype",
+ "multi-tissue structure",
+ "tube phenotype",
+ "forelimb skeleton",
+ "segment of autopod",
+ "Abnormal nasal morphology",
"programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- ],
- "has_phenotype_count": 8,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0012565",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
- "full_name": None,
- "deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
- "xref": ["DOID:0111094", "GARD:15500", "MEDGEN:372133", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002984",
- "HP:0002885",
- "HP:0001631",
- "HP:0009778",
- "HP:0000125",
- "HP:0002667",
- "HP:0009777",
- "HP:0000568",
- "HP:0004808",
- "HP:0001518",
- "HP:0001915",
- "HP:0000470",
- "HP:0003221",
- "HP:0000252",
- "HP:0003006",
- "HP:0008897",
- "HP:0000953",
- "HP:0000316",
- "HP:0000957",
- "HP:0001629",
- "HP:0000085",
- "HP:0000086",
- "HP:0000122",
- "HP:0002023",
- "HP:0000286",
- ],
- "has_phenotype_label": [
- "Hypoplasia of the radius",
- "Medulloblastoma",
- "Atrial septal defect",
- "Short thumb",
- "Pelvic kidney",
- "Nephroblastoma",
- "Absent thumb",
- "Microphthalmia",
- "Acute myeloid leukemia",
- "Small for gestational age",
- "Aplastic anemia",
- "Short neck",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Neuroblastoma",
- "Postnatal growth retardation",
- "Hyperpigmentation of the skin",
- "Hypertelorism",
- "Cafe-au-lait spot",
- "Ventricular septal defect",
+ "digit 1",
+ "nose tip",
+ "Abnormal external nose morphology",
+ "manual digit plus metapodial segment",
+ "root",
+ "endochondral element",
+ "decreased size of the manual digit",
+ "manual digit morphology in the manus phenotype",
+ "limb morphology phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "Abnormality of the hand",
+ "trunk region element",
+ "autopod region morphology phenotype",
"Horseshoe kidney",
- "Ectopic kidney",
- "Unilateral renal agenesis",
- "Anal atresia",
- "Epicanthus",
- ],
- "has_phenotype_closure": [
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0075878",
- "UPHENO:0072255",
- "UBERON:0001711",
- "UPHENO:0005319",
- "UPHENO:0072414",
- "UBERON:0034921",
- "UPHENO:0072415",
- "UBERON:0013766",
- "UBERON:0001084",
- "UPHENO:0001134",
- "UPHENO:0003021",
- "UPHENO:0076761",
- "UBERON:0001457",
- "UBERON:0012180",
- "UPHENO:0072402",
- "UPHENO:0001360",
- "HP:0025033",
- "UPHENO:0002839",
- "UBERON:0004111",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "UPHENO:0063599",
- "UPHENO:0074230",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0011739",
- "UPHENO:0026227",
- "UPHENO:0026600",
- "UPHENO:0011931",
- "UPHENO:0025661",
- "UPHENO:0011533",
- "UPHENO:0027014",
- "UPHENO:0009011",
- "UPHENO:0026980",
- "UPHENO:0026630",
- "HP:0000104",
- "HP:0000122",
- "UPHENO:0002812",
- "UPHENO:0025187",
- "UPHENO:0025211",
- "UPHENO:0026507",
- "UPHENO:0008545",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "UPHENO:0041226",
- "UPHENO:0041821",
- "UPHENO:0080300",
- "UPHENO:0008827",
- "HP:0001713",
- "UPHENO:0033604",
- "UPHENO:0074245",
- "HP:0001629",
- "HP:0010438",
- "UPHENO:0003828",
- "UBERON:0002094",
- "HP:0001034",
- "HP:0000957",
- "HP:0011355",
- "UBERON:0010222",
- "HP:0000316",
- "UPHENO:0001072",
- "UPHENO:0002887",
- "UPHENO:0072185",
- "UPHENO:0072200",
- "UPHENO:0002864",
- "UPHENO:0001304",
- "UPHENO:0002962",
- "UBERON:0000466",
- "UPHENO:0018424",
- "UPHENO:0072195",
- "UBERON:0000015",
- "UPHENO:0003811",
- "HP:0000286",
- "UPHENO:0074584",
- "HP:0002023",
- "UPHENO:0050008",
- "UBERON:0002097",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "UPHENO:0080377",
- "UPHENO:0000543",
- "HP:0001510",
- "HP:0008897",
- "HP:0004376",
- "HP:0030065",
- "UPHENO:0011770",
- "NCBITaxon:6072",
- "UBERON:0002082",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "UPHENO:0072345",
- "UPHENO:0086866",
- "HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0000955",
- "UPHENO:0072264",
- "UBERON:0002616",
- "UPHENO:0076805",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0010323",
- "HP:0030061",
- "UBERON:0000481",
- "HP:0030669",
- "HP:0002060",
- "UPHENO:0025631",
- "UPHENO:0004802",
- "UBERON:0001890",
- "GO:0060255",
- "UPHENO:0011559",
- "GO:0009889",
- "GO:0031323",
- "GO:0009892",
- "UPHENO:0050126",
- "UPHENO:0049757",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "UPHENO:0050007",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UBERON:0002416",
- "HP:0040012",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "GO:0009890",
- "UBERON:0034944",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "UBERON:0002199",
- "GO:0031327",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
- "UPHENO:0050778",
- "GO:0031049",
- "GO:0050789",
- "UPHENO:0002654",
- "UPHENO:0001025",
- "UBERON:0006072",
- "UBERON:0002412",
- "UPHENO:0002769",
- "UPHENO:0002616",
- "UPHENO:0002674",
- "UBERON:0008001",
- "UBERON:0015007",
- "HP:0030063",
- "UBERON:0004247",
- "UBERON:0010913",
- "HP:0009121",
- "UBERON:0000974",
- "UBERON:0001137",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "HP:0025668",
- "UBERON:0002090",
- "UBERON:0001130",
- "HP:0003319",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0004621",
- "UBERON:0006077",
- "UPHENO:0003038",
- "UPHENO:0046571",
- "UPHENO:0003092",
- "UPHENO:0002646",
- "UPHENO:0002813",
- "UPHENO:0004047",
- "UBERON:0005434",
- "UPHENO:0008593",
- "UBERON:0005174",
- "UPHENO:0026308",
- "UBERON:0000479",
- "HP:0001873",
- "UPHENO:0063794",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "HP:0001915",
- "UPHENO:0077391",
- "HP:0020047",
- "CL:0000764",
- "HP:0001876",
- "CL:0000232",
- "CL:0000233",
- "CL:0000081",
- "UPHENO:0085344",
- "UPHENO:0077418",
- "UPHENO:0008816",
- "CL:0000225",
- "UBERON:1000021",
- "UPHENO:0085302",
- "UPHENO:0063722",
- "HP:0011873",
- "HP:0012145",
- "UPHENO:0010799",
- "HP:0002977",
- "UPHENO:0002553",
+ "Abnormality of skin pigmentation",
+ "decreased length of bone of free limb or fin",
+ "nose morphology phenotype",
+ "decreased qualitatively sensory perception",
+ "appendicular skeleton phenotype",
+ "autopodial skeleton",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "nose tip morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "decreased length of autopodial extension",
+ "skin of body",
+ "manus",
+ "All",
+ "skeleton of manus",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "Abnormality of the ocular adnexa",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
+ "decreased length of multicellular anatomical structure",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "mesoderm-derived structure phenotype",
+ "bone of jaw phenotype",
+ "reproductive system",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "paired limb/fin skeleton phenotype",
+ "Abnormality of the nose",
+ "absent manual digit",
+ "facial bone phenotype",
+ "manual digitopodium region",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "organism subdivision phenotype",
+ "dermatocranium phenotype",
+ "appendage",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "U-shaped anatomical entity",
+ "upper limb segment phenotype",
+ "shape anatomical entity",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "external nose",
+ "appendage phenotype",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "Abnormal finger morphology",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "limb phenotype",
+ "Short finger",
+ "sensory perception",
+ "acropodium region",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "regulation of gene expression",
+ "pigmentation",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "skeleton of limb",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb phenotype",
+ "Abnormality of chromosome stability",
+ "Abnormality of the palpebral fissures",
+ "immaterial anatomical entity phenotype",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "regulation of biological process",
+ "motile cell",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "ectoderm-derived structure phenotype",
+ "sensory system phenotype",
+ "decreased size of the long bone",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "external genitalia",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "reproductive structure",
+ "subdivision of head",
+ "size of anatomical entity phenotype",
+ "cranial skeletal system phenotype",
+ "decreased size of the anatomical conduit",
+ "facial bone hypoplasia",
+ "bone of pectoral complex morphology phenotype",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "Hypoplasia of the radius",
+ "localised gonad",
+ "bone of lower jaw",
+ "tissue",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "face",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "palpebral fissure phenotype",
+ "postcranial axial skeleton",
+ "limb bone",
+ "dermal bone phenotype",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "U-shaped kidney",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "neural crest-derived structure phenotype",
+ "dermal skeletal element",
+ "bone cell",
+ "anatomical entity length phenotype",
+ "trunk",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "craniofacial/craniocervical phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "decreased length of endochondral bone",
+ "decreased size of the anatomical structure",
+ "taxon specific phenotype",
+ "skull",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "dentary",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Neoplasm of the skin",
+ "skeletal system phenotype",
+ "subdivision of skeletal system phenotype",
+ "skeleton of lower jaw",
+ "paired limb/fin",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "growth phenotype",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "head",
+ "anatomical system",
+ "bone marrow",
+ "digitopodium region",
+ "localised material anatomical entity",
+ "mandible hypoplasia",
+ "Abnormality of the genitourinary system",
+ "anatomical conduit phenotype",
+ "facial skeleton",
+ "anatomical entity hypoplasia in face",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "long bone",
+ "localised reproductive organ",
+ "head bone",
+ "skull morphology phenotype",
+ "entity",
+ "eye phenotype",
+ "postcranial axial skeletal system",
+ "Abnormal axial skeleton morphology",
+ "bone marrow cell",
+ "digestive tract",
+ "immaterial entity",
+ "Abnormal male external genitalia morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "head morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "musculature",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "bone element hypoplasia in face",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "visual system",
+ "forelimb zeugopod morphology phenotype",
+ "anatomical entity height phenotype",
+ "subdivision of digestive tract phenotype",
+ "integumental system phenotype",
+ "ocular adnexa",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "limb long bone phenotype",
+ "lower jaw region",
+ "excretory system",
+ "regulation of macromolecule metabolic process phenotype",
+ "dermatocranium",
+ "digestive system element",
+ "organ part",
+ "Abnormal mandible morphology",
+ "platelet",
+ "dermal skeletal element phenotype",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity",
+ "jaw skeleton morphology phenotype",
+ "external male genitalia phenotype",
+ "forelimb long bone",
+ "Short thumb",
+ "Abnormality of the ear",
+ "pectoral appendage",
+ "membrane bone",
+ "primary subdivision of cranial skeletal system phenotype",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "mandible morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "musculoskeletal system phenotype",
+ "skull phenotype",
+ "absent anatomical entity",
+ "cell",
+ "ear physiology phenotype",
+ "mandible",
+ "manual digit",
+ "Squamous cell carcinoma",
+ "Cryptorchidism",
+ "limb endochondral element",
+ "shape kidney",
+ "aplasia or hypoplasia of skeleton",
+ "tube",
+ "Abnormality of blood and blood-forming tissues",
+ "radius bone morphology phenotype",
+ "face phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure",
+ "facial skeleton morphology phenotype",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "nucleate cell",
+ "anatomical entity hypoplasia",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "forelimb zeugopod bone phenotype",
+ "kidney",
+ "Aplasia/Hypoplasia of the mandible",
+ "Abnormal nervous system morphology",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "visual system phenotype",
+ "aplasia or hypoplasia of mandible",
+ "digit plus metapodial segment",
+ "immune system",
+ "anatomical entity phenotype",
+ "endochondral element phenotype",
+ "dentary phenotype",
+ "decreased size of the bone of free limb or fin",
+ "olfactory organ phenotype",
+ "Abnormal brain morphology",
+ "autopod region",
+ "increased pigmentation in skin of body",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "increased size of the material anatomical entity",
+ "craniocervical region phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "dermal bone",
+ "erythroid lineage cell",
+ "head bone morphology phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "anatomical structure",
+ "sense organ phenotype",
+ "bone element",
+ "mesoderm-derived structure",
+ "facial bone",
+ "anatomical system phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "testis",
+ "absent material anatomical entity in the multicellular organism",
+ "hemolymphoid system",
+ "erythrocyte",
+ "Upper limb undergrowth",
+ "hematopoietic cell",
+ "musculoskeletal system",
+ "paired limb/fin segment",
+ "musculature phenotype",
+ "regulation of cellular process phenotype",
+ "blood cell",
+ "myeloid cell",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "absent material anatomical entity",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "material entity",
+ "regional part of brain phenotype",
+ "organ",
+ "anatomical entity",
+ "craniocervical region morphology phenotype",
+ "continuant",
+ "secretory cell",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "leukocyte",
+ "concave 3-D shape anatomical entity",
+ "intramembranous bone",
+ "vestibulo-auditory system phenotype",
+ "appendicular skeletal system",
+ "phenotype",
+ ],
+ "has_phenotype_count": 20,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001942",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0003155",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083",
+ ],
+ "has_phenotype_label": [
+ "Metabolic acidosis",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency",
+ ],
+ "has_phenotype_closure": [
+ "HP:0000083",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
"UPHENO:0049874",
- "UBERON:0015410",
- "CL:0000457",
- "UPHENO:0015277",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0002548",
- "HP:0000086",
- "HP:0000707",
- "HP:0100886",
- "UPHENO:0076791",
- "UBERON:0000915",
- "HP:0012639",
- "CL:0002031",
- "UPHENO:0004469",
- "GO:0010556",
- "UPHENO:0003827",
- "UPHENO:0003027",
- "HP:0100836",
- "UPHENO:0053580",
- "UBERON:0010707",
- "UPHENO:0001147",
- "UPHENO:0086857",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0075804",
- "HP:0000119",
- "HP:0030067",
- "UPHENO:0012440",
- "UPHENO:0069062",
- "UPHENO:0033565",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "HP:0009821",
- "UBERON:0010000",
+ "UPHENO:0081424",
+ "CHEBI:35605",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "CHEBI:33608",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UPHENO:0046286",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:18133",
+ "CHEBI:35381",
+ "CHEBI:16646",
+ "CHEBI:78616",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
"UPHENO:0002964",
- "UBERON:0005451",
- "UPHENO:0046483",
- "UPHENO:0001570",
- "UPHENO:0002983",
- "UPHENO:0069194",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UBERON:0000062",
- "UPHENO:0002643",
- "GO:0008152",
- "UPHENO:9002003",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
- "UPHENO:0003065",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0002530",
- "HP:0002984",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0008548",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "HP:0009115",
- "UBERON:0000465",
- "UPHENO:0072359",
- "UPHENO:0002927",
+ "HP:0011842",
+ "HP:0000924",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
"UBERON:0002204",
- "UPHENO:0027017",
- "HP:0100547",
- "UPHENO:0053643",
- "HP:0002664",
- "UPHENO:0002910",
- "UPHENO:0005214",
+ "UBERON:0004765",
+ "UPHENO:0002559",
+ "UPHENO:0076692",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
+ "CHEBI:33839",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
+ "UPHENO:0003432",
+ "UPHENO:0081544",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
+ "HP:0032943",
+ "CHEBI:60911",
+ "HP:0003109",
+ "UPHENO:0051686",
+ "HP:0003110",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0051709",
+ "UPHENO:0068110",
+ "UBERON:0000025",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
+ "BFO:0000001",
"UBERON:0001008",
- "HP:0000077",
- "HP:0011121",
- "UPHENO:0003410",
- "UPHENO:0069327",
- "UPHENO:0025776",
- "UPHENO:0004521",
- "UPHENO:0002656",
- "UPHENO:0069125",
- "UBERON:0001245",
- "HP:0045060",
- "UBERON:0001434",
- "UBERON:0015212",
- "UBERON:0004381",
+ "UPHENO:0000543",
+ "UPHENO:0003413",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
"UBERON:0005173",
- "CL:0001035",
- "UPHENO:0015324",
- "UPHENO:0046750",
- "HP:0000271",
- "HP:0040068",
- "UPHENO:0002659",
- "HP:0002973",
- "CL:0011115",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
"UBERON:0000383",
- "GO:0043473",
+ "UPHENO:0002346",
+ "HP:0000079",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
+ "UBERON:0002100",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
+ "UPHENO:0000541",
+ "UPHENO:0002909",
+ "CHEBI:24833",
+ "UBERON:0004111",
+ "UPHENO:0084654",
+ "UPHENO:0066921",
+ "HP:0011042",
+ "HP:0032180",
+ "UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
+ "GO:0042592",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UPHENO:0004459",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
+ "UPHENO:0034351",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "CHEBI:36357",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
+ "UPHENO:0002832",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
+ "UBERON:0000174",
+ "UPHENO:0002386",
+ "UPHENO:0069327",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
+ "UPHENO:0002963",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
"HP:0001939",
- "HP:0010987",
- "UPHENO:0012308",
- "UBERON:0001062",
- "UPHENO:0002525",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046455",
- "HP:0006501",
- "HP:0000925",
- "UBERON:0010740",
- "UPHENO:0008825",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0046538",
- "UPHENO:0002593",
- "UPHENO:0086956",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
+ "BFO:0000002",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
"UPHENO:0002949",
- "UPHENO:0076740",
- "UBERON:0001423",
- "UBERON:0002101",
- "UPHENO:0002866",
- "HP:0011793",
- "UBERON:0011137",
- "UBERON:0004535",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "GO:0008150",
- "UPHENO:0076703",
+ "UBERON:0000465",
+ "UPHENO:0001003",
"UBERON:0003103",
- "UPHENO:0084448",
- "UBERON:0002470",
- "UPHENO:0046479",
- "UPHENO:0080079",
- "HP:0005120",
- "UPHENO:0046445",
- "UPHENO:0046552",
- "UPHENO:0068912",
- "UBERON:0015061",
- "CL:0011026",
- "UPHENO:0002650",
- "UBERON:0010741",
- "UPHENO:0072263",
- "UBERON:0011582",
- "UBERON:5002544",
- "UBERON:0004151",
- "UPHENO:0075944",
- "UPHENO:0086644",
- "GO:0010468",
- "UBERON:0010758",
- "UPHENO:0050063",
- "UPHENO:0003074",
- "UPHENO:0087472",
- "UPHENO:0002568",
- "UBERON:0034925",
- "HP:0002011",
- "HP:0001909",
- "UBERON:0008962",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0033560",
- "UBERON:0007100",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UBERON:0008785",
- "UPHENO:0041465",
- "HP:0000315",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0012141",
- "UPHENO:0003049",
- "UPHENO:0003020",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0015281",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "UPHENO:0002536",
- "UPHENO:0076727",
- "UPHENO:0002554",
- "UPHENO:0054970",
- "UBERON:0001440",
- "HP:0011844",
- "UBERON:0001032",
- "HP:0025354",
- "UPHENO:0002750",
- "UPHENO:0046540",
- "UPHENO:0003004",
- "UBERON:0002081",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "UPHENO:0068932",
- "UBERON:0004456",
- "UBERON:0003607",
- "UPHENO:0063596",
- "UPHENO:0009020",
- "UPHENO:0081581",
- "UBERON:0002471",
- "HP:0100542",
- "UPHENO:0053612",
- "UBERON:0010703",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0003815",
- "UBERON:0004765",
- "RO:0002577",
- "UPHENO:0002746",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "HP:0025031",
- "HP:0002667",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0006496",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "UBERON:0000467",
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904",
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
+ "organic molecule",
+ "muscle organ",
+ "increased level of organic acid in urine",
+ "oxoacid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
+ "urine glucose level phenotype",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
+ "Abnormal urinary organic compound level",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
+ "polypeptide",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
+ "protein polypeptide chain",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
+ "Metabolic acidosis",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
+ "abdominal segment element phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
+ "decreased level of phosphate in blood",
+ "nephron epithelium phenotype",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "trunk",
+ "epithelial tube",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
+ "main body axis",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
+ "abdomen element",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "Acidosis",
+ "nephron epithelium",
+ "Abnormal blood phosphate concentration",
+ "renal system",
+ "phosphate",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "lateral structure",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
+ "Abnormality of the musculoskeletal system",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
+ "skeletal element",
+ "increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
+ "anatomical system physiology phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
+ "skeletal element phenotype",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "anatomical system",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "monoatomic entity",
+ "body proper",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "bodily fluid",
+ "phosphoric acid derivative",
+ "racemate",
+ "blood phosphate level phenotype",
+ "blood monoatomic ion level phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "haemolymphatic fluid",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
+ "biological_process phenotype",
+ "Elevated circulating alkaline phosphatase concentration",
+ "compound organ",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
+ "blood phenotype",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
+ "phenotype",
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity",
+ ],
+ "has_phenotype_count": 16,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322",
+ "HP:0000252",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature",
+ "Microcephaly",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0004704",
"UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0069047",
- "BFO:0000040",
- "UPHENO:0086633",
- "UPHENO:0072355",
- "UPHENO:0011825",
- "UPHENO:0068838",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0069161",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "UPHENO:0087349",
- "UPHENO:0074227",
- "UPHENO:0001001",
- "UBERON:0002386",
- "UPHENO:0001584",
- "UPHENO:0003812",
- "UPHENO:0011817",
- "GO:0050794",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "HP:0009601",
- "UPHENO:3000004",
- "HP:0001671",
- "UPHENO:0086700",
- "HP:0000492",
- "HP:0002817",
- "UPHENO:0003799",
- "UBERON:0004121",
- "HP:0100006",
- "UPHENO:0087501",
- "UPHENO:0002945",
- "UPHENO:0046392",
- "UPHENO:0002861",
- "UBERON:0011584",
- "HP:0005561",
- "UBERON:0004120",
- "UBERON:0000026",
- "UPHENO:0076718",
+ "UPHENO:0004523",
+ "UPHENO:0076799",
"HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0003095",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0007272",
- "CL:0000151",
- "HP:0009778",
- "UBERON:0010712",
- "UBERON:0000061",
- "UPHENO:0069163",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0000467",
- "UPHENO:0033559",
- "HP:0008678",
- "UBERON:0015021",
- "HP:0003026",
- "UBERON:0003466",
- "UPHENO:0069292",
- "CL:0000839",
- "UPHENO:0069064",
+ "UBERON:0011676",
+ "UPHENO:0081566",
+ "HP:0100547",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "UBERON:0011138",
+ "UBERON:0000475",
+ "NCBITaxon:2759",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "HP:0000924",
+ "UPHENO:0076805",
+ "UBERON:0010314",
+ "UPHENO:0004521",
+ "UPHENO:0002844",
+ "UPHENO:0002736",
+ "UBERON:0000153",
+ "UPHENO:0087907",
"UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UPHENO:0086854",
- "UPHENO:0054374",
- "UPHENO:0082794",
- "UPHENO:0002594",
- "HP:0009815",
- "HP:0007400",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:0001369",
- "HP:0009824",
- "HP:0000929",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0002371",
- "HP:0001627",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UBERON:0011249",
- "UBERON:0000014",
- "PATO:0000001",
- "UPHENO:0046403",
- "UPHENO:0079876",
- "UBERON:0012475",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0002754",
+ "UBERON:0001015",
"UBERON:0000075",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0002413",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0072194",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "HP:0004375",
- "UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0046465",
- "UBERON:0003606",
- "HP:0001574",
- "UPHENO:0049587",
- "OBI:0100026",
- "UPHENO:0002963",
- "HP:0003006",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "HP:0000464",
- "UPHENO:0069236",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UPHENO:0002934",
- "UPHENO:3000007",
- "UPHENO:0046460",
- "UPHENO:0069523",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0077348",
+ "UPHENO:0002764",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "UPHENO:0086589",
+ "UBERON:0002090",
+ "UPHENO:0003025",
+ "UBERON:0001893",
+ "UBERON:0000073",
+ "UPHENO:0002902",
+ "UBERON:0034925",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UPHENO:0076703",
+ "NCBITaxon:33154",
+ "UPHENO:0069254",
"GO:0040007",
- "BFO:0000001",
- "HP:0009726",
+ "UPHENO:0080351",
+ "UBERON:0004288",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UBERON:0000383",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0003432",
+ "UPHENO:0088162",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
+ "UPHENO:0088170",
+ "UBERON:0000955",
+ "CL:0000764",
+ "UBERON:0011137",
+ "UPHENO:0049743",
+ "UBERON:0002616",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0075159",
+ "HP:0040012",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "UBERON:0001890",
+ "GO:0065007",
+ "CHEBI:36963",
+ "UPHENO:0050025",
+ "HP:0001903",
+ "GO:0010605",
+ "HP:0000707",
+ "UPHENO:0049757",
+ "GO:0005623",
+ "UPHENO:0050065",
+ "CHEBI:36962",
+ "UPHENO:0050040",
+ "GO:0031326",
+ "UPHENO:0049775",
+ "UPHENO:0002526",
+ "GO:0031052",
+ "GO:0031049",
+ "GO:0010629",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:0002976",
+ "GO:0050794",
+ "HP:0001874",
+ "BFO:0000004",
+ "UPHENO:0078606",
+ "UPHENO:0049642",
"NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0046472",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0053588",
- "UPHENO:0002785",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "GO:0031323",
+ "GO:0048519",
+ "HP:0000240",
+ "BFO:0000015",
+ "UPHENO:0048751",
+ "GO:0009890",
+ "NCBITaxon:33208",
+ "UPHENO:0089764",
+ "CHEBI:15841",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "HP:0002060",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UPHENO:0063794",
+ "CHEBI:33304",
+ "HP:0002011",
+ "HP:0011017",
+ "CHEBI:33302",
"HP:0000152",
- "UPHENO:0003514",
- "UBERON:0010708",
- "UPHENO:0081091",
- "UBERON:0015001",
- "UPHENO:0009209",
- "HP:0002885",
- "UPHENO:0004831",
- "UPHENO:0041629",
- "HP:0001631",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0015308",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UBERON:0010314",
- "UBERON:0015228",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0086855",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
- "UPHENO:0033607",
- "UPHENO:0003086",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0076739",
- "UPHENO:0010795",
- "HP:0005773",
- "UPHENO:0002733",
+ "HP:0000252",
+ "GO:0042592",
+ "CHEBI:24431",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "CHEBI:16541",
+ "UPHENO:0076702",
+ "HP:0011873",
+ "UPHENO:0002532",
+ "UPHENO:0077391",
+ "UPHENO:0046378",
+ "PR:000003809",
+ "HP:0012443",
+ "HP:0003221",
+ "UPHENO:0089759",
"UBERON:0013701",
- "UBERON:0009569",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "BFO:0000015",
- "UBERON:0002085",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0004827",
- "UBERON:0000064",
- "UPHENO:0033590",
- "UPHENO:0004507",
- "UPHENO:0076776",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076810",
- "HP:0011927",
- "UPHENO:0072332",
- "UPHENO:0087427",
- "HP:0006265",
- "UBERON:0005178",
- "UBERON:0003037",
- "UBERON:0001463",
- "CL:0000835",
- "HP:0001872",
- "UBERON:0002099",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0069684",
- "HP:0030060",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0004476",
- "CL:0000458",
- "UPHENO:0084761",
- "UBERON:0004451",
- "UPHENO:3000000",
- "CL:0008001",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "UPHENO:0069605",
- "UPHENO:0053561",
- "UPHENO:0003082",
- "UPHENO:0033572",
- "UPHENO:0087907",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0088166",
- "UBERON:0012477",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
- "HP:0012733",
- "UBERON:0002544",
- "UPHENO:0010850",
- "UPHENO:0080114",
- "UBERON:0002389",
- "UPHENO:0009021",
- "HP:0011297",
- "UPHENO:0072293",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0002909",
- "UPHENO:0087307",
- "UBERON:0001712",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069674",
- "UPHENO:0053619",
- "UBERON:0002417",
- "HP:0010935",
- "UPHENO:0053632",
- "HP:0000470",
- "CL:0000988",
- "UBERON:0001474",
- "UPHENO:0004386",
- "UPHENO:0002803",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0046505",
- "UBERON:0002104",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0003093",
+ "UPHENO:0050435",
+ "HP:0045056",
+ "CHEBI:37622",
+ "UBERON:0000179",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "UPHENO:0086019",
+ "BFO:0000003",
+ "CL:0000232",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0086176",
+ "UPHENO:0048707",
+ "PR:000000001",
+ "UPHENO:0051612",
+ "CHEBI:33839",
+ "UBERON:0000062",
+ "HP:0032180",
+ "UBERON:0000178",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "UPHENO:0004505",
+ "UPHENO:0051804",
+ "CL:0001035",
+ "HP:0012145",
+ "CHEBI:32988",
+ "UPHENO:0085302",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "HP:0002977",
+ "GO:0009987",
+ "HP:0005561",
+ "UPHENO:0005092",
"HP:0000118",
- "UPHENO:0018390",
- "UPHENO:0025585",
- "UBERON:0002398",
- "UPHENO:0053601",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0007811",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0086589",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UBERON:0011143",
- "UBERON:0002113",
- "UPHENO:0050065",
- "UPHENO:0075655",
- "HP:0011794",
- "HP:0011792",
- "HP:0010786",
- "HP:0007379",
- "UPHENO:0008668",
- "HP:0002898",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:3000003",
- "UBERON:0006058",
- "UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "HP:0000079",
- "UPHENO:0081451",
+ "UPHENO:0076286",
+ "UBERON:0001474",
+ "CL:0000225",
+ "HP:0010876",
+ "UPHENO:0003004",
+ "UBERON:0000479",
+ "CHEBI:33582",
+ "PR:000018263",
+ "HP:0032251",
+ "HP:0011875",
+ "PR:000064867",
+ "UBERON:0013702",
+ "HP:0001872",
+ "UPHENO:0002963",
+ "CL:0000766",
+ "UPHENO:0002536",
"UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "CL:0000763",
- "UPHENO:0026640",
- "UPHENO:0041075",
- "UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0026643",
- "UPHENO:0004494",
- "HP:0000951",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0011994",
- "UBERON:0005177",
- "UBERON:0001444",
- "UBERON:0000970",
- "HP:0008056",
- "UBERON:0010230",
- "UPHENO:0005097",
- "HP:0000234",
- "UBERON:0000033",
- "UPHENO:0080209",
- "UPHENO:0087123",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0002693",
- "UPHENO:0004757",
- "UPHENO:0075219",
- "UBERON:0010363",
- "HP:0000568",
- "UPHENO:0002976",
- "UBERON:0004122",
- "CL:0002191",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0086863",
- "UPHENO:0002764",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001456",
- "HP:0012372",
- "HP:0000478",
- "UBERON:0000916",
- "UPHENO:0002844",
- "UPHENO:0001231",
- "UPHENO:0002928",
- "UBERON:0001555",
- "UBERON:0000020",
- "UBERON:0000047",
- "CL:0002092",
- "UBERON:0000019",
- "UPHENO:0087058",
"CL:0000000",
- "UBERON:0000948",
- "HP:0004377",
- "UPHENO:0082761",
- "HP:0009826",
- "HP:0002488",
- "HP:0004808",
+ "UPHENO:0001001",
+ "HP:0009121",
+ "UBERON:0002405",
+ "UPHENO:0085330",
+ "UBERON:0004120",
+ "UPHENO:0049904",
+ "HP:0001510",
+ "HP:0002715",
+ "UBERON:0000033",
+ "UPHENO:0002568",
+ "UPHENO:0011498",
+ "CHEBI:23367",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UPHENO:0004459",
+ "UPHENO:0063787",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "HP:0005528",
+ "UPHENO:0002948",
+ "UBERON:0001016",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "CHEBI:16670",
+ "CL:0000738",
"CL:0000219",
- "HP:0100887",
- "CL:0002242",
- "UPHENO:0011572",
+ "UPHENO:0085344",
+ "UBERON:0007811",
+ "HP:0033127",
+ "BFO:0000040",
+ "CL:0000763",
+ "UPHENO:0046284",
+ "UPHENO:0077418",
+ "HP:0001877",
+ "CL:0000775",
+ "UPHENO:0069062",
+ "CL:0000081",
+ "CL:0000151",
+ "GO:0010556",
+ "HP:0000929",
+ "UPHENO:0077348",
+ "HP:0001875",
+ "UBERON:0006314",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "UBERON:0002390",
+ "UPHENO:0088166",
+ "HP:0000234",
+ "UPHENO:0002530",
+ "UBERON:0001062",
+ "UPHENO:0077826",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0081547",
+ "UBERON:0002371",
+ "HP:0010974",
+ "UBERON:0000465",
+ "UPHENO:0000543",
"CL:0000255",
+ "UBERON:0005944",
+ "UPHENO:0077822",
+ "UPHENO:0001003",
+ "HP:0001871",
+ "HP:0032309",
+ "CL:0000458",
+ "UPHENO:0001002",
"UBERON:0002193",
- "UBERON:0002390",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0002948",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0077399",
+ "UPHENO:3000000",
+ "UBERON:0010000",
+ "CL:0000233",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "UBERON:0004121",
+ "UPHENO:0050784",
+ "UBERON:0015203",
+ "UPHENO:0080079",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "HP:0000001",
+ "UPHENO:0049868",
+ "UPHENO:0080200",
+ "GO:0019222",
+ "UPHENO:0085354",
+ "UPHENO:0004503",
+ "UBERON:0011216",
+ "CL:0002242",
+ "CL:0000988",
+ "PR:000050567",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0010987",
+ "HP:0006254",
+ "UPHENO:0002554",
+ "UPHENO:0011531",
+ "UPHENO:0085356",
+ "CHEBI:36357",
+ "NCBITaxon:131567",
"UBERON:0034923",
+ "UPHENO:0076692",
+ "CHEBI:35352",
+ "UBERON:0000467",
+ "CL:0000094",
"UPHENO:0086172",
- "HP:0001871",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002969",
- "HP:0001172",
- "HP:0002715",
- "UPHENO:0010808",
- "HP:0011314",
- "HP:0032251",
- "HP:0004323",
- "HP:0001518",
- "UBERON:0002091",
- "UPHENO:0054304",
- "GO:0031326",
- "BFO:0000003",
+ "CL:0000457",
+ "UPHENO:0051763",
+ "HP:0001873",
+ "GO:0048523",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "CL:0000329",
+ "HP:0011893",
+ "UBERON:0010323",
+ "UPHENO:0080010",
+ "HP:0001881",
+ "CHEBI:33256",
+ "UPHENO:0077373",
+ "CHEBI:51143",
+ "UBERON:0004765",
+ "UPHENO:0011536",
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
- "Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "brain phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "Morphological central nervous system abnormality",
"Aplasia/Hypoplasia involving the central nervous system",
+ "central nervous system morphology phenotype",
+ "head",
+ "axial skeleton plus cranial skeleton",
+ "postcranial axial skeleton",
+ "musculoskeletal system phenotype",
+ "Abnormal cerebral morphology",
+ "musculature",
+ "subdivision of skeletal system",
+ "multi-tissue structure",
"Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "nervous system morphology phenotype",
+ "Abnormal skull morphology",
+ "size of skull phenotype",
+ "Opisthokonta",
"Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
- "regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "skeletal system morphology phenotype",
+ "organ phenotype",
+ "telencephalon phenotype",
+ "anatomical collection",
+ "root",
+ "skull morphology phenotype",
+ "musculature of body phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "brain morphology phenotype",
+ "main body axis",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
"Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
- "Chromosome breakage",
- "Abnormal platelet count",
- "bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
- "blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
- "tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
+ "brain",
+ "ectoderm-derived structure phenotype",
+ "central nervous system",
+ "Abnormality of head or neck",
+ "cranial skeletal system",
"ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
+ "musculature phenotype",
+ "telencephalon morphology phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "craniocervical region phenotype",
+ "body proper",
+ "craniocervical region",
+ "Eukaryota",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormality of the nervous system",
+ "head phenotype",
+ "Microcephaly",
+ "aplasia or hypoplasia of anatomical entity",
+ "organ system subdivision phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "decreased height of the multicellular organism",
+ "forebrain phenotype",
+ "decreased size of the anatomical structure",
+ "delayed biological_process",
+ "organism subdivision",
+ "growth phenotype",
"Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
"decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
- "mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
+ "Growth abnormality",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "musculature of body",
+ "negative regulation of cellular process phenotype",
+ "regional part of brain",
+ "negative regulation of biological process phenotype",
+ "head morphology phenotype",
+ "negative regulation of gene expression phenotype",
+ "negative regulation of biological process",
"Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
+ "negative regulation of gene expression",
+ "nervous system",
+ "biological regulation",
+ "process",
+ "regulation of cellular process phenotype",
+ "leukocyte morphology phenotype",
+ "regulation of biological process",
"subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
- "programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
- "skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
- "skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "anatomical system",
- "forelimb endochondral element",
- "endochondral element",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of gene expression",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "peptide",
+ "Abnormal cellular physiology",
+ "erythrocyte",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "organooxygen compound",
+ "organic molecular entity",
+ "negative regulation of metabolic process",
+ "role bodily fluid level phenotype",
+ "polypeptide",
+ "regulation of metabolic process",
+ "bodily fluid phenotype",
+ "role blood level phenotype",
+ "Growth delay",
+ "amino acid chain",
+ "skull",
+ "regulation of cellular biosynthetic process phenotype",
+ "anterior region of body",
+ "homeostatic process",
+ "erythroid lineage cell morphology phenotype",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "nervous system phenotype",
+ "brain phenotype",
+ "chemical entity",
+ "central nervous system phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "bodily fluid",
+ "protein-containing molecular entity",
+ "polyatomic entity",
+ "granulocyte",
+ "negative regulation of metabolic process phenotype",
+ "increased level of chemical entity",
+ "carbon group molecular entity",
+ "bone cell",
"number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "metabolic process",
+ "material entity",
+ "Abnormal circulating protein concentration",
+ "organochalcogen compound",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal cellular immune system morphology",
+ "carboxamide",
+ "multicellular organism",
+ "oxygen molecular entity",
+ "Abnormal skeletal morphology",
+ "Abnormal circulating metabolite concentration",
+ "organism substance phenotype",
+ "axial skeletal system",
+ "phenotypic effect",
+ "amide",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "nitrogen molecular entity level phenotype",
+ "skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "organism substance",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "pnictogen molecular entity",
+ "negative regulation of biosynthetic process",
+ "alpha-fetoprotein",
+ "Abnormality of metabolism/homeostasis",
+ "blood phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "blood organic amino compound level phenotype",
+ "organonitrogen compound",
+ "blood alpha-fetoprotein level phenotype",
"anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
- "central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "protein polypeptide chain",
+ "erythroid lineage cell",
+ "haemolymphatic fluid phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of metabolic process phenotype",
+ "bone marrow cell",
+ "heteroorganic entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "alpha-fetoprotein level phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "homeostatic process phenotype",
+ "bone element",
"musculoskeletal system",
- "limb segment",
+ "bone marrow",
+ "organ system subdivision",
+ "Abnormal platelet morphology",
+ "immune system morphology phenotype",
"organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
- "nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
+ "tissue",
+ "Phenotypic abnormality",
+ "Abnormality of blood and blood-forming tissues",
+ "telencephalon",
+ "regulation of cellular process",
+ "platelet phenotype",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "immune system",
+ "anatomical entity morphology phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "obsolete protein-containing material entity",
+ "cellular process",
+ "Abnormal immune system morphology",
+ "decreased number of leukocyte",
+ "multi-tissue structure phenotype",
+ "decreased number of neutrophil",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "oxygen accumulating cell",
+ "Abnormality of the immune system",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
"regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
+ "decreased number of cell",
+ "biological_process phenotype",
+ "myeloid leukocyte",
+ "hemolymphoid system",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "haemolymphatic fluid",
+ "cranial skeletal system phenotype",
+ "size of anatomical entity phenotype",
+ "blood",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "platelet",
+ "Neutropenia",
+ "cell phenotype",
+ "neutrophil",
+ "continuant",
+ "Abnormality of thrombocytes",
+ "organism subdivision phenotype",
+ "All",
+ "blood protein polypeptide chain level phenotype",
+ "secretory cell",
+ "macromolecule",
+ "biogenic amine secreting cell",
+ "multicellular anatomical structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "forebrain morphology phenotype",
+ "number of cell phenotype",
+ "anucleate cell",
+ "Abnormality of neutrophils",
+ "cellular organisms",
+ "molecular entity",
+ "multicellular organism height phenotype",
+ "Abnormal myeloid leukocyte morphology",
+ "Abnormal neutrophil count",
+ "main group molecular entity",
+ "postcranial axial skeletal system",
+ "nitrogen molecular entity",
+ "Abnormal axial skeleton morphology",
+ "anatomical system",
+ "Abnormal leukocyte count",
+ "anatomical entity height phenotype",
+ "decreased number of anatomical entity",
+ "aplasia or hypoplasia of telencephalon",
+ "material anatomical entity",
+ "regulation of gene expression phenotype",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of anatomical structure",
+ "blood cell",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased number of platelet",
+ "anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "skeletal system",
+ "decreased number of hematopoietic cell",
+ "Abnormal platelet count",
+ "blood chemical entity level phenotype",
+ "hematopoietic system",
+ "skeletal system phenotype",
+ "regulation of biosynthetic process",
+ "Abnormal granulocyte morphology",
+ "hematopoietic cell",
+ "regional part of nervous system phenotype",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "programmed DNA elimination",
+ "entity",
+ "motile cell",
+ "granulocyte morphology phenotype",
+ "Chromosome breakage",
+ "disconnected anatomical group",
+ "regulation of biological process phenotype",
+ "number of myeloid cell phenotype",
+ "non-connected functional system",
+ "regulation of macromolecule metabolic process",
+ "number of platelet phenotype",
+ "negative regulation of cellular process",
+ "primary amide",
+ "Abnormal bone marrow cell morphology",
+ "subdivision of organism along main body axis phenotype",
+ "myeloid leukocyte phenotype",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "Abnormal leukocyte morphology",
+ "neutrophil phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "eukaryotic cell",
+ "Thrombocytopenia",
+ "immune system phenotype",
+ "nucleate cell",
+ "Abnormal granulocyte count",
+ "protein",
+ "decreased number of granulocyte",
+ "size of multicellular organism phenotype",
+ "erythrocyte morphology phenotype",
+ "obsolete cell",
+ "decreased number of material anatomical entity",
+ "multicellular organism chemical entity level phenotype",
+ "cell",
+ "phenotype",
+ "leukocyte",
+ "organic amino compound",
+ "taxon specific phenotype",
+ "Bone marrow hypocellularity",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "occurrent",
+ "increased level of alpha-fetoprotein",
+ "blood cell phenotype",
+ ],
+ "has_phenotype_count": 8,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0003974",
+ "HP:0002984",
+ "HP:0001510",
+ "HP:0001643",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835",
+ "HP:0000086",
+ "HP:0000252",
+ ],
+ "has_phenotype_label": [
+ "Absent radius",
+ "Hypoplasia of the radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Absent thumb",
+ "Chromosome breakage",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid",
+ "Ectopic kidney",
+ "Microcephaly",
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0004704",
+ "HP:0002977",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "HP:0040195",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0000929",
+ "HP:0000252",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0011137",
+ "NCBITaxon:33208",
+ "NCBITaxon:2759",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0002736",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0000955",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0005944",
+ "UBERON:0002090",
+ "UBERON:0000073",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UBERON:0004121",
+ "NCBITaxon:33154",
+ "UPHENO:0003004",
+ "UPHENO:0053643",
+ "UBERON:0001008",
+ "HP:0100542",
+ "UPHENO:0053601",
+ "UPHENO:0053580",
+ "UBERON:0000489",
+ "UBERON:0005173",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "HP:0000079",
+ "UPHENO:0003093",
+ "UBERON:0005172",
+ "HP:0012443",
+ "UPHENO:0053619",
+ "UPHENO:0053612",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "HP:0010935",
+ "HP:0000086",
+ "UPHENO:0002642",
+ "HP:0004231",
+ "UPHENO:0026144",
+ "UPHENO:0087496",
+ "UPHENO:0053588",
+ "UPHENO:0002858",
+ "UPHENO:0002619",
+ "UPHENO:0079870",
+ "UBERON:0000982",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UPHENO:0008744",
+ "UPHENO:0025811",
+ "UPHENO:0003010",
+ "UPHENO:0000543",
+ "UPHENO:0002973",
+ "UPHENO:0009335",
+ "UPHENO:0002961",
+ "UPHENO:0002723",
+ "UPHENO:0002673",
+ "UPHENO:0009330",
+ "UBERON:0010959",
+ "HP:0003019",
+ "HP:0006502",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0009288",
+ "UBERON:0004461",
+ "UBERON:0003656",
+ "UPHENO:0003094",
+ "UBERON:0015078",
+ "UPHENO:0002733",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0026045",
+ "UPHENO:0002835",
+ "HP:0001367",
+ "UPHENO:0002613",
+ "UPHENO:0004312",
+ "UBERON:0015023",
+ "UBERON:0010546",
+ "UPHENO:0084458",
+ "UPHENO:0081515",
+ "UPHENO:0050126",
+ "HP:0009823",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "UPHENO:0002638",
+ "HP:0003026",
+ "UPHENO:0002832",
+ "UBERON:0009880",
+ "HP:0009658",
+ "UPHENO:0033560",
+ "UPHENO:0002881",
+ "UPHENO:0002548",
+ "UPHENO:0026127",
+ "UPHENO:0075195",
+ "UPHENO:0026076",
+ "UPHENO:0025520",
+ "UPHENO:0009303",
+ "UBERON:0003645",
+ "UBERON:0004302",
+ "UBERON:0009877",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UPHENO:0046397",
+ "UBERON:0001480",
+ "UPHENO:0009363",
+ "UPHENO:0080160",
+ "GO:0050794",
+ "UPHENO:0009400",
+ "UPHENO:0027061",
+ "HP:0005914",
+ "UPHENO:0025230",
+ "UBERON:0014892",
+ "UPHENO:0080168",
+ "UPHENO:0026715",
+ "UBERON:0004249",
+ "UPHENO:0002845",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UPHENO:0026717",
+ "HP:0005918",
+ "UPHENO:0026330",
+ "UPHENO:0076702",
+ "HP:0009834",
+ "UBERON:0012151",
+ "UPHENO:0081455",
+ "HP:0009825",
+ "UPHENO:0025118",
+ "UBERON:0003821",
+ "UBERON:0015043",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0080164",
+ "UBERON:0013581",
+ "UPHENO:0002632",
+ "UPHENO:0081521",
+ "UPHENO:0003698",
+ "UPHENO:0009310",
+ "UPHENO:0084447",
+ "UPHENO:0002601",
+ "UBERON:0018254",
+ "UPHENO:0087369",
+ "UPHENO:0002759",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0005206",
+ "UPHENO:0081700",
+ "HP:0009767",
+ "UPHENO:0002910",
+ "HP:0000152",
+ "UPHENO:0003697",
+ "UBERON:0001577",
+ "UBERON:0003620",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0076710",
+ "UPHENO:0004492",
+ "UPHENO:0002905",
+ "UPHENO:0003081",
+ "HP:0000234",
+ "HP:0030680",
+ "UPHENO:0009338",
+ "UPHENO:0002928",
+ "HP:0010628",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0001191",
+ "GO:0065007",
+ "UPHENO:0025452",
+ "HP:0010827",
+ "UPHENO:0080173",
+ "HP:0011805",
+ "UPHENO:0002386",
+ "UBERON:0013700",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UBERON:0000010",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UPHENO:0078730",
+ "HP:0010242",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "UPHENO:0002612",
+ "HP:0030962",
+ "GO:0010468",
+ "HP:0006824",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "UPHENO:0002897",
+ "UPHENO:0003047",
+ "UPHENO:0002764",
+ "UBERON:0004473",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0068838",
+ "UBERON:0001456",
+ "UPHENO:0008668",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UPHENO:0002385",
+ "UPHENO:0002562",
+ "UBERON:0000033",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "UBERON:0015025",
+ "HP:0030319",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UPHENO:0002643",
+ "UPHENO:0025342",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0008743",
+ "UPHENO:0025456",
+ "UPHENO:0086172",
+ "UPHENO:0033602",
+ "GO:0060255",
+ "UPHENO:0003066",
+ "GO:0009892",
+ "UBERON:0002234",
+ "HP:0011017",
+ "UPHENO:0026756",
+ "UPHENO:0080083",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0002570",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "UPHENO:0009383",
+ "UPHENO:0049757",
+ "UBERON:0000465",
+ "HP:0000271",
+ "GO:0010629",
+ "UPHENO:0025103",
+ "UPHENO:0049904",
+ "UPHENO:0027058",
+ "GO:0019222",
+ "UPHENO:0026181",
+ "UPHENO:0026314",
+ "HP:0009659",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0007364",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "HP:0009601",
+ "UBERON:0001890",
+ "UPHENO:0046403",
+ "UBERON:0012141",
+ "UBERON:0001647",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "UPHENO:0002782",
+ "UPHENO:0069030",
+ "UPHENO:0002708",
+ "UBERON:0019221",
+ "HP:0010048",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UPHENO:0012274",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UPHENO:0087006",
+ "UBERON:0019231",
+ "UBERON:5102389",
+ "UBERON:5002544",
+ "UPHENO:0009382",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0005985",
+ "UBERON:0002398",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0025556",
+ "UPHENO:0076805",
+ "UPHENO:0009326",
+ "UBERON:0002513",
+ "UPHENO:0002908",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0011695",
+ "UBERON:5006048",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0000467",
+ "UPHENO:0026650",
+ "UPHENO:0009430",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001172",
+ "HP:0009777",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UBERON:0000055",
+ "UBERON:0003103",
+ "HP:0025015",
+ "UPHENO:0002704",
+ "UPHENO:0087309",
+ "GO:0009889",
+ "UPHENO:0084761",
+ "UPHENO:0002869",
+ "HP:0011603",
+ "UBERON:0018674",
+ "UPHENO:0005116",
+ "UBERON:0001637",
+ "UBERON:0005440",
+ "UBERON:0034923",
+ "UPHENO:0076810",
+ "UPHENO:0001002",
+ "UPHENO:0002898",
+ "HP:0002597",
+ "UPHENO:0003031",
+ "UBERON:0003607",
+ "UBERON:0012357",
+ "UPHENO:0002954",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "UPHENO:0018390",
+ "UPHENO:0033603",
+ "UPHENO:0002640",
+ "UPHENO:0002576",
+ "UPHENO:0002754",
+ "UPHENO:0033593",
+ "UPHENO:0026806",
+ "UPHENO:0026073",
+ "UPHENO:0068921",
+ "UPHENO:0015277",
+ "UBERON:0010740",
+ "UPHENO:0033573",
+ "UPHENO:0080126",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UBERON:0014395",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "UBERON:0013702",
+ "UPHENO:0011533",
+ "UPHENO:0002950",
+ "UBERON:0017750",
+ "UPHENO:0025587",
+ "UBERON:0012150",
+ "UPHENO:0033590",
+ "UBERON:0010314",
+ "HP:0040070",
+ "UBERON:0002376",
+ "UPHENO:0003025",
+ "UPHENO:0002634",
+ "HP:0002818",
+ "UPHENO:0033580",
+ "UPHENO:0002696",
+ "UPHENO:0075655",
+ "UPHENO:0033568",
+ "UPHENO:0087186",
+ "UPHENO:0025651",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003084",
+ "UBERON:0004537",
+ "UPHENO:0002963",
+ "UBERON:0011779",
+ "UBERON:0003509",
+ "UPHENO:0002917",
+ "UPHENO:0002320",
+ "UBERON:0000075",
+ "UBERON:0013768",
+ "UPHENO:0025782",
+ "UBERON:0004535",
+ "UPHENO:0025547",
+ "UBERON:0003498",
+ "UPHENO:0046531",
+ "UPHENO:0003086",
+ "UPHENO:0026163",
+ "UBERON:0006048",
+ "UBERON:0007798",
+ "UPHENO:9002003",
+ "UPHENO:0086633",
+ "UPHENO:0033598",
+ "UPHENO:0033579",
+ "HP:0012210",
+ "HP:0011804",
+ "UBERON:0004573",
+ "UPHENO:0025593",
+ "UBERON:0004453",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0003019",
+ "UBERON:0009569",
+ "UBERON:0004288",
+ "UPHENO:0004507",
+ "UPHENO:0025166",
+ "UPHENO:0002738",
+ "UBERON:0015001",
+ "UPHENO:0003050",
+ "UBERON:0004111",
+ "UPHENO:0049587",
+ "UPHENO:0002938",
+ "UBERON:0000948",
+ "UPHENO:0002844",
+ "UPHENO:0087334",
+ "UPHENO:0000541",
+ "UPHENO:0004345",
+ "UPHENO:0049874",
+ "UBERON:0015024",
+ "UPHENO:0068932",
+ "UPHENO:0069328",
+ "UPHENO:0009291",
+ "HP:0009810",
+ "UPHENO:0046552",
+ "UPHENO:0009302",
+ "UPHENO:0009304",
+ "UPHENO:0026312",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0001507",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0002804",
+ "UPHENO:0069194",
+ "HP:0009824",
+ "NCBITaxon:131567",
+ "UPHENO:0002637",
+ "UPHENO:0026970",
+ "UBERON:0015061",
+ "UPHENO:0033584",
+ "HP:0003011",
+ "UPHENO:0025135",
+ "UPHENO:0068971",
+ "UPHENO:0026095",
+ "UPHENO:0003415",
+ "UPHENO:0004405",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UPHENO:0002554",
+ "HP:0010035",
+ "UBERON:0000153",
+ "UPHENO:0069163",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0004710",
+ "HP:0002984",
+ "UPHENO:0003022",
+ "UPHENO:0086635",
+ "UPHENO:0069292",
+ "GO:0008150",
+ "UBERON:0004716",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005178",
+ "UPHENO:0003088",
+ "UBERON:0001981",
+ "UPHENO:0046405",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0046396",
+ "GO:0031052",
+ "HP:0001324",
+ "UPHENO:0069327",
+ "UPHENO:0025546",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UBERON:0003606",
+ "UPHENO:0046505",
+ "UPHENO:0003065",
+ "UBERON:0001427",
+ "UBERON:0013630",
+ "UPHENO:0009399",
+ "UPHENO:0049868",
+ "UPHENO:0002719",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0026813",
+ "UPHENO:0015331",
+ "UPHENO:0025647",
+ "UPHENO:0026146",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "UPHENO:0004827",
+ "UPHENO:0069064",
+ "UPHENO:0076767",
+ "UPHENO:0081511",
+ "UBERON:0015410",
+ "UBERON:0004765",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0025441",
+ "UBERON:0002049",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0006716",
+ "UPHENO:0025585",
+ "UPHENO:0009386",
+ "UPHENO:0046483",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0081524",
+ "UPHENO:0005134",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UPHENO:0015308",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "UPHENO:0087018",
+ "HP:0002817",
+ "UPHENO:0009010",
+ "UPHENO:0008475",
+ "UPHENO:0075944",
+ "UPHENO:0009337",
+ "HP:0000001",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UBERON:0002374",
+ "UBERON:0015228",
+ "UPHENO:0015324",
+ "UPHENO:0026317",
+ "UPHENO:0002593",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0026098",
+ "UPHENO:0002916",
+ "UBERON:0001423",
+ "UPHENO:0026273",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0002902",
+ "UBERON:0011584",
+ "UPHENO:0001001",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0006876",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0025883",
+ "UPHENO:0002648",
+ "BFO:0000001",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "HP:0005916",
+ "UPHENO:0002945",
+ "UPHENO:0025176",
+ "HP:0001939",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0008709",
+ "UBERON:0001009",
+ "UPHENO:0080555",
+ "UBERON:0000915",
+ "UPHENO:0012312",
+ "UPHENO:0026640",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0015049",
+ "UBERON:0001033",
+ "HP:0002973",
+ "UBERON:0010543",
+ "UPHENO:0004142",
+ "UPHENO:0081451",
+ "UPHENO:0025961",
+ "UPHENO:0046554",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "HP:0009115",
+ "UPHENO:0002590",
+ "UPHENO:0002526",
+ "HP:0001643",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0080187",
+ "UPHENO:0011573",
+ "UBERON:0000026",
+ "UPHENO:0027014",
+ "UPHENO:0025845",
+ "UPHENO:0009391",
+ "UBERON:0012140",
+ "UBERON:0011249",
+ "UBERON:0001785",
+ "UPHENO:0076754",
+ "UPHENO:0086589",
+ "UPHENO:0046460",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0002781",
+ "UPHENO:0009367",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0053566",
+ "HP:0000301",
+ "UPHENO:0002751",
+ "HP:0006501",
+ "UPHENO:0003227",
+ "UBERON:0010708",
+ "UPHENO:0015281",
+ "UPHENO:0025508",
+ "UPHENO:0046455",
+ "UPHENO:0002659",
+ "UPHENO:0002752",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0009295",
+ "UPHENO:0079876",
+ "UBERON:0002075",
+ "HP:0011314",
+ "UBERON:0010741",
+ "UPHENO:0076729",
+ "UBERON:0010363",
+ "UPHENO:0003012",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "UPHENO:0025652",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0076755",
+ "UPHENO:0011498",
+ "UPHENO:0002568",
+ "UPHENO:0002433",
+ "HP:0006496",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0026097",
+ "UBERON:0003834",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0026808",
+ "HP:0009822",
+ "UPHENO:0025607",
+ "UPHENO:0033599",
+ "UBERON:0003221",
+ "UBERON:0001474",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "HP:0000924",
+ "UBERON:0009878",
+ "HP:0009851",
+ "UBERON:0002495",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "UPHENO:0026972",
+ "HP:0010009",
+ "UPHENO:0025788",
+ "UPHENO:0008865",
+ "UPHENO:0080325",
+ "HP:0009802",
+ "UPHENO:0002652",
+ "RO:0002577",
+ "UPHENO:0026183",
+ "UPHENO:0011492",
+ "UBERON:0013701",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0003799",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UPHENO:0027017",
+ "HP:0009815",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026329",
+ "UPHENO:0009115",
+ "HP:0011297",
+ "UPHENO:0033609",
+ "UPHENO:0087501",
+ "UPHENO:0026811",
+ "UPHENO:0009163",
+ "BFO:0000002",
+ "UPHENO:0002896",
+ "UPHENO:0025852",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0002899",
+ "UPHENO:0025882",
+ "UBERON:0006058",
+ "HP:0005922",
+ "UPHENO:0011563",
+ "UPHENO:0025527",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "BFO:0000003",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0046445",
+ "UPHENO:0050063",
+ "UBERON:0001434",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "GO:0042592",
+ "UBERON:0004381",
+ "HP:0033353",
+ "UPHENO:0003005",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0025645",
+ "UPHENO:0003082",
+ "UPHENO:0003413",
+ "HP:0003953",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0086797",
+ "UPHENO:0008703",
+ "UPHENO:0076718",
+ "UPHENO:0012308",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0002011",
+ "HP:0000119",
+ "UPHENO:0004173",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0009366",
+ "UPHENO:0046392",
+ "UBERON:0000477",
+ "UPHENO:0076703",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0004145",
+ "UBERON:0004708",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UBERON:0004572",
+ "UBERON:0010000",
+ "UPHENO:0011531",
+ "UPHENO:0025544",
+ "UPHENO:0050007",
+ "UBERON:0008785",
+ "HP:0003974",
+ "UPHENO:0004457",
+ "UBERON:0002428",
+ "UBERON:0007272",
+ "UPHENO:0005092",
+ "UBERON:0010538",
+ "UBERON:0002386",
+ "UPHENO:0003069",
+ "UPHENO:0002641",
+ "UPHENO:0002586",
+ "UBERON:0004571",
+ "UBERON:0003466",
+ "UPHENO:0025553",
+ "HP:0011835",
+ "UBERON:0001062",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UPHENO:0079872",
+ "GO:0031049",
+ "UPHENO:0026010",
+ "UBERON:0008229",
+ "UBERON:0012475",
+ "UBERON:0001436",
+ "UPHENO:0002926",
+ "UPHENO:0080191",
+ "UPHENO:0002731",
+ "HP:0006265",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0002559",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0033581",
+ "UPHENO:0011568",
+ "UPHENO:0025509",
+ "UBERON:0000475",
+ "UPHENO:0002668",
+ "HP:0012799",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UPHENO:0069125",
+ "UBERON:0011216",
+ "UPHENO:0011572",
+ "UBERON:0034713",
+ "UBERON:0010758",
+ "UPHENO:0009209",
+ "UPHENO:0005214",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0002983",
+ "UBERON:0010688",
+ "UPHENO:0002604",
+ "UPHENO:0068839",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "UPHENO:0002880",
+ "UBERON:0004452",
+ "UPHENO:0046465",
+ "UBERON:0003513",
+ "UPHENO:0003432",
+ "UPHENO:0025808",
+ "UBERON:0010544",
+ "UPHENO:0004595",
+ "UBERON:0001435",
+ "UPHENO:0002717",
+ "UPHENO:0002949",
+ "UPHENO:0002967",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002756",
+ "HP:0010026",
+ "UPHENO:0076776",
+ "UPHENO:0009356",
+ "UPHENO:0081204",
+ "UPHENO:0025497",
+ "UPHENO:0076765",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0046479",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "GO:0040007",
+ "UPHENO:0025855",
+ "HP:0001510",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0002816",
+ "UBERON:0015042",
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "regional part of nervous system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "axial skeleton plus cranial skeleton",
"postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
+ "aplasia or hypoplasia of telencephalon",
"multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "Abnormal cerebral morphology",
+ "multi-tissue structure",
+ "cellular organisms",
+ "nervous system morphology phenotype",
+ "size of skull phenotype",
+ "Opisthokonta",
+ "Abnormality of skull size",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "root",
+ "skull morphology phenotype",
+ "regional part of brain phenotype",
+ "brain morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Eumetazoa",
+ "head morphology phenotype",
+ "cranial skeletal system",
+ "axial skeletal system",
+ "ectoderm-derived structure",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
"forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
+ "localised trunk region element",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdominal segment of trunk",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "upper urinary tract",
+ "kidney morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "Abnormality of the genitourinary system",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "Ectopic kidney",
+ "renal system phenotype",
+ "renal system",
+ "excretory system",
+ "Abnormal 1st metacarpal morphology",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "localised kidney",
+ "Aplasia involving bones of the upper limbs",
+ "abdominal segment element",
+ "localised abdomen element",
+ "abdomen element phenotype",
+ "carpal bone phenotype",
+ "absent forelimb endochondral element in the forelimb",
+ "absent carpus endochondral element",
+ "absent carpus endochondral element in the limb",
+ "absent manus bone in the metacarpus region",
+ "limb",
+ "proximal carpal bone",
"decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
- "trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
- "pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
+ "forelimb",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "absent mesopodium bone in the limb",
+ "proximal carpal endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "articulation",
+ "carpal region phenotype",
+ "mesopodial skeleton",
+ "localised cavitated compound organ",
+ "radiale phenotype",
+ "carpal region",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "Abnormality of the musculoskeletal system",
+ "skeletal joint phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "carpal bone morphology phenotype",
+ "Abnormality of the cardiovascular system",
+ "carpal skeleton",
+ "proximal carpal bone phenotype",
+ "manus bone",
+ "absent proximal carpal endochondral element",
+ "skeletal joint",
+ "proximal mesopodial bone",
+ "mesopodium bone",
+ "paired limb/fin phenotype",
"decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
+ "renal/urinary system phenotype",
+ "Abnormal muscle physiology",
+ "proximal carpal endochondral element",
+ "proximal mesopodial endochondral element phenotype",
+ "Abnormal joint morphology",
+ "Absent scaphoid",
+ "skeletal muscle organ, vertebrate",
"aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
+ "vasculature phenotype",
+ "Aplasia of the 1st metacarpal",
+ "metacarpal bone phenotype",
+ "cavitated compound organ",
+ "mesopodium region phenotype",
+ "absent forelimb long bone in the metacarpus region",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "absent anatomical structure in the metacarpus region",
+ "absent forelimb endochondral element in the metacarpus region",
+ "Abnormality of the wrist",
+ "metacarpal bone morphology phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "metapodium region",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "absent autopod bone in the limb",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "carpal bone",
+ "absent bone of free limb or fin in the metacarpus region",
+ "brain",
+ "absent manus bone",
+ "phalanx phenotype",
+ "absent autopod endochondral element in the limb",
+ "Partial absence of thumb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "Aplasia of metacarpal bones",
+ "phalanx endochondral element",
+ "ectoderm-derived structure phenotype",
+ "metapodial skeleton",
+ "acropodial skeleton",
"limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
+ "absent limb bone in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "manual digit bone",
+ "metacarpus region",
+ "autopod endochondral element",
"forelimb bone",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
- "anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
- "skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
- "bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
+ "metacarpus skeleton",
+ "metacarpus skeleton phenotype",
+ "mesopodial skeleton phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "nerve",
+ "aplastic manual digit 1 phalanx",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "multi organ part structure phenotype",
+ "aplastic phalanx of manus",
+ "absent autopod bone",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "absent metapodium bone",
+ "artery morphology phenotype",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "manual digit 1 phalanx phenotype",
+ "aplastic carpal bone",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "absent manual digit metacarpus endochondral element",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "digitopodium bone",
+ "autopodial extension",
+ "radiale",
+ "manual digit 1 phalanx endochondral element",
+ "digit 1 or 5 phenotype",
+ "metacarpal bone",
+ "phalanx of manus phenotype",
+ "forebrain",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "subdivision of head",
+ "cell phenotype",
+ "metapodial skeleton phenotype",
+ "Abnormality of facial musculature",
+ "Abnormality of the nervous system",
+ "decreased size of the bone of pectoral complex",
+ "absent endochondral bone in the metacarpus region",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "cranial muscle phenotype",
+ "aplasia or hypoplasia of proximal phalanx of manus",
+ "craniocervical muscle",
+ "absent forelimb bone in the metacarpus region",
+ "phalanx of manus",
+ "nerve of head region",
+ "anatomical structure physiology phenotype",
+ "Weakness of facial musculature",
+ "Muscle weakness",
+ "anatomical system",
+ "head",
+ "nervous system",
+ "metacarpal bone of digit 1 morphology phenotype",
"organism subdivision phenotype",
+ "skeletal musculature phenotype",
+ "nervous system physiology phenotype",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "absent forelimb bone",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
+ "carpal skeleton phenotype",
+ "facial nerve",
+ "axial musculature",
+ "manus bone phenotype",
+ "localised anatomical entity",
+ "craniocervical muscle phenotype",
+ "Abnormality of limb bone",
+ "muscle organ physiology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "cranial or facial muscle",
"manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
- "thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
+ "skeletal musculature",
+ "muscle organ morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "absent carpal bone in the limb",
+ "cranial or facial muscle phenotype",
"pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
+ "skeletal musculature of head",
+ "phalanx morphology phenotype",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "decreased muscle organ strength",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "genitourinary system",
+ "Abnormality of facial soft tissue",
+ "incomplete closing of the anatomical structure",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "forelimb morphology phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "absent radiale",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "absent manual digitopodium bone",
+ "regulation of metabolic process phenotype",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Unilateral facial palsy",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
"subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "skeletal system phenotype",
+ "absent metacarpal bone",
"thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "decreased length of digit 1",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Abnormal morphology of the radius",
+ "vessel",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "absent proximal carpal bone",
+ "regulation of gene expression phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "Abnormality of metabolism/homeostasis",
+ "absent bone of pectoral complex",
+ "cranial muscle",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "absent carpal bone",
+ "paralysed anatomical entity",
"manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "manual digit 1 morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "Finger aplasia",
+ "peripheral nervous system phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
+ "autopod bone phenotype",
+ "manual digit 1",
+ "All",
"skeleton of manus",
- "limb endochondral element phenotype",
+ "Abnormality of head or neck",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Facial palsy",
+ "manual digitopodium region",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent organism subdivision",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "metacarpal bone of digit 1",
+ "individual digit of digitopodial skeleton",
+ "skeleton of manual digitopodium",
+ "short bone phenotype",
+ "autopod region phenotype",
+ "manus phenotype",
+ "manual digit bone phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the ductus arteriosus",
+ "digit phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Abnormal hand morphology",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "digit plus metapodial segment",
+ "autopod region",
+ "aplastic manual digit 1",
+ "absent manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "systemic arterial system",
+ "telencephalon morphology phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "negative regulation of metabolic process",
+ "arm bone",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the thoracic segment blood vessel",
+ "absent metapodium bone in the metacarpus region",
+ "localised organ",
+ "structure with developmental contribution from neural crest phenotype",
+ "manus morphology phenotype",
+ "opening of the anatomical entity",
+ "arterial blood vessel phenotype",
+ "primary circulatory organ phenotype",
+ "trunk",
+ "craniocervical region phenotype",
+ "absent bone element in the metacarpus region",
+ "blood vessel morphology phenotype",
+ "manual digitopodium bone phenotype",
+ "thoracic segment of trunk",
+ "vascular system morphology phenotype",
+ "mesopodium region",
+ "absent radius endochondral element in the forelimb",
+ "incomplete closing of the coronary vessel",
+ "manual digit 1 or 5",
+ "organ physiology phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "metapodium bone phenotype",
+ "manual digit plus metapodial segment",
+ "conceptus",
+ "incomplete closing of the multicellular anatomical structure",
+ "absent material anatomical entity in the metacarpus region",
+ "forelimb zeugopod phenotype",
+ "trunk blood vessel phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "autopodial extension phenotype",
+ "Abnormal cardiovascular system morphology",
+ "thoracic segment blood vessel",
+ "ductus arteriosus",
+ "decreased length of anatomical structure",
+ "material anatomical entity",
+ "blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "musculature phenotype",
+ "coronary vessel",
+ "outflow tract",
+ "decreased length of forelimb zeugopod bone",
+ "heart",
+ "decreased length of forelimb endochondral element",
+ "incomplete closing of the artery",
+ "Abnormal vascular morphology",
+ "manual digit",
+ "viscus phenotype",
+ "anatomical entity length phenotype",
+ "incomplete closing of the anatomical conduit",
+ "regulation of macromolecule metabolic process phenotype",
+ "trunk phenotype",
+ "vasculature of trunk",
+ "radius bone morphology phenotype",
+ "absent proximal mesopodial endochondral element",
+ "absent anatomical structure in the forelimb",
+ "trunk blood vessel",
+ "skeletal element",
+ "arterial blood vessel",
+ "Abnormality of the upper limb",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "heart phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical cluster phenotype",
+ "Abnormal seventh cranial physiology",
+ "systemic artery phenotype",
+ "vascular system",
+ "paired limb/fin skeleton",
+ "viscus",
+ "absent long bone in the metacarpus region",
+ "compound organ phenotype",
+ "great vessel of heart morphology phenotype",
+ "circulatory system",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormal forebrain morphology",
+ "body proper",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "vessel phenotype",
+ "decreased length of limb endochondral element",
+ "vasculature of organ",
+ "biological_process phenotype",
+ "autopod bone",
+ "Abnormal forearm bone morphology",
+ "anatomical conduit",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "circulatory system phenotype",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "musculature",
+ "incomplete closing of the systemic artery",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "incomplete closing of the material anatomical entity",
+ "central nervous system",
"digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
+ "Eukaryota",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "absent skeletal element in the forelimb",
"autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
+ "trunk region element",
+ "anatomical cluster",
+ "Abnormal finger phalanx morphology",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "carpus endochondral element",
+ "absent digitopodium bone",
+ "regulation of cellular process phenotype",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "growth",
+ "aplastic metacarpal bone of digit 1",
+ "segment of manus",
+ "Growth delay",
+ "decreased size of the limb endochondral element",
+ "Growth abnormality",
+ "limb endochondral element",
+ "Abnormal blood vessel morphology",
+ "limb bone phenotype",
+ "decreased size of the limb bone",
+ "Aplasia involving bones of the extremities",
+ "subdivision of trunk",
+ "cardiovascular system phenotype",
+ "proximal mesopodial endochondral element",
+ "short bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of carpal bone",
+ "absent limb endochondral element in the forelimb",
+ "multi cell part structure phenotype",
+ "decreased size of the arm bone",
+ "incomplete closing of the trunk blood vessel",
+ "decreased size of the bone of free limb or fin",
+ "vasculature of organ phenotype",
+ "anterior region of body",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormality of the vasculature",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "decreased length of endochondral bone",
+ "upper urinary tract phenotype",
+ "ductus arteriosus morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "decreased length of skeletal element",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "skeleton of digitopodium",
+ "anatomical system physiology phenotype",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "heart vasculature",
+ "decreased size of the multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "size of anatomical entity phenotype",
+ "Short long bone",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
"decreased size of the organ",
+ "regulation of biological process",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "absent autopod endochondral element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "neuron projection bundle phenotype",
+ "anatomical conduit phenotype",
+ "Aplasia/Hypoplasia of fingers",
"radius bone phenotype",
- "abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
- "genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "limb segment",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "process",
+ "decreased size of the forelimb bone",
+ "organism subdivision",
+ "pectoral appendage",
+ "absent endochondral element in the metacarpus region",
+ "Abnormal limb bone morphology",
+ "arm",
+ "cranial nerve phenotype",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "blood vasculature",
+ "incomplete closing of the heart blood vessel",
+ "face phenotype",
+ "Hypoplasia of the radius",
+ "absent multicellular anatomical structure in the limb",
+ "anatomical structure",
+ "coronary vessel morphology phenotype",
+ "circulatory organ",
+ "heart blood vessel",
+ "delayed biological_process",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
"cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
+ "articular system",
+ "absent short bone in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia of the extremities",
+ "skeleton of manual acropodium",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "artery phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormal carpal morphology",
+ "appendicular skeleton phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "manual digit phalanx endochondral element phenotype",
+ "Phenotypic abnormality",
+ "absent anatomical entity in the metacarpus region",
+ "bone of pectoral complex morphology phenotype",
+ "proximal mesopodial bone phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
"number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
- "kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
- "Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
+ "Patent ductus arteriosus",
+ "heart morphology phenotype",
+ "metapodium bone",
+ "decreased length of arm bone",
+ "zeugopod",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "cranial nerve",
+ "bone element",
+ "forelimb zeugopod morphology phenotype",
"material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
+ "regulation of macromolecule biosynthetic process",
+ "great vessel of heart",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "phalanx endochondral element phenotype",
+ "skeletal system",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "primary circulatory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "manual digit digitopodial skeleton",
+ "thoracic cavity element",
+ "blood vessel phenotype",
+ "absent organ",
+ "absent limb endochondral element in the limb",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "digitopodium bone phenotype",
+ "absent forelimb long bone",
+ "decreased length of forelimb bone",
+ "absent short bone",
+ "Abnormal proximal phalanx morphology of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "forelimb phenotype",
+ "absent bone element in the forelimb",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "kidney phenotype",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "absent mesopodium bone",
+ "multicellular organism phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "absent autopodial extension",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "arm bone phenotype",
+ "cardiovascular system morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "thoracic cavity element phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "absent material anatomical entity",
+ "absent skeletal element in the limb",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "absent anatomical entity",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "central nervous system phenotype",
+ "mesopodium bone phenotype",
+ "limb long bone",
+ "anatomical entity morphology phenotype",
+ "absent organ in the metacarpus region",
+ "craniocervical region musculature",
+ "manual digit metacarpus endochondral element",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
+ "system",
+ "absent bone of free limb or fin in the limb",
+ "outflow tract phenotype",
+ "limb phenotype",
+ "aplasia or hypoplasia of metacarpal bone",
+ "number of anatomical enitites of type bone element phenotype",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormal long bone morphology",
+ "Abnormal metacarpal morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "absent bone of appendage girdle complex in the limb",
+ "Aplasia/hypoplasia involving the skeleton",
+ "nervous system phenotype",
+ "forelimb endochondral element",
+ "absent manual digitopodium bone in the metacarpus region",
+ "homeostatic process phenotype",
+ "absent material anatomical entity in the limb",
+ "thoracic segment organ",
+ "continuant",
+ "agenesis of anatomical entity",
+ "absent bone element",
+ "vasculature",
+ "limb morphology phenotype",
+ "phenotypic effect",
+ "embryonic cardiovascular system",
+ "absent organ in the forelimb",
+ "limb bone",
+ "anatomical entity morphology in the pectoral complex phenotype",
"number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
"growth phenotype",
+ "forelimb zeugopod bone phenotype",
+ "manual digit 1 metacarpus endochondral element",
+ "absent radius endochondral element",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "arm phenotype",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "occurrent",
+ "absent digitopodium bone in the metacarpus region",
+ "absent anatomical entity in the skeletal system",
+ "metapodium bone 1",
+ "absent autopod bone in the metacarpus region",
+ "artery",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "absent bone of free limb or fin",
+ "absent endochondral bone",
+ "gustatory system",
+ "Abnormal skeletal muscle morphology",
+ "radius bone hypoplasia",
+ "decreased length of anatomical entity",
+ "absent bone of pectoral complex in the metacarpus region",
+ "paired limb/fin skeleton phenotype",
+ "forelimb zeugopod",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent bone of pectoral complex in the limb",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of upper limb joint",
+ "absent limb bone",
+ "absent bone of pectoral complex in the forelimb",
+ "absent manus bone in the limb",
+ "long bone",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "absent endochondral element in the forelimb",
+ "anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "arterial system",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "Carpal bone aplasia",
+ "upper limb segment phenotype",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "forelimb bone phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "entity",
+ "radius endochondral element",
+ "paired limb/fin segment phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "incomplete closing of the anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "anatomical structure phenotype",
+ "endochondral element",
+ "appendage phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "skeleton phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "Abnormal skeletal morphology",
+ "absent limb long bone in the metacarpus region",
+ "Absent radius",
+ "anatomical entity phenotype",
+ "appendicular skeletal system",
+ "carpus endochondral element phenotype",
+ "radius bone",
+ "localised compound organ",
+ "absent arm bone in the forelimb",
+ "organ",
+ "pectoral appendage phenotype",
+ "Abnormal nervous system morphology",
+ "incomplete closing of the mesoderm-derived structure",
+ "skull",
+ "taxon specific phenotype",
+ "aplasia or hypoplasia of phalanx of manus",
+ "absent forelimb zeugopod bone",
+ "musculature of face",
+ "facial nerve phenotype",
+ "decreased size of the endochondral element",
+ "Abnormality of the musculature",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "musculoskeletal system",
+ "forelimb long bone",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "musculoskeletal system phenotype",
+ "muscle structure",
+ "anatomical entity morphology in the heart phenotype",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "Abnormal forearm morphology",
+ "decreased size of the skeletal element",
+ "forelimb skeleton phenotype",
+ "skeleton of limb phenotype",
+ "Metazoa",
+ "absent proximal mesopodial bone",
+ "anatomical collection",
+ "absent skeletal element in the metacarpus region",
+ "systemic artery morphology phenotype",
+ "absent endochondral element in the limb",
+ "Aplasia involving forearm bones",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent forelimb bone in the forelimb",
+ "main body axis",
+ "peripheral nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "mesoderm-derived structure",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "segment of autopod",
+ "forelimb skeleton",
+ "limb long bone phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "decreased anatomical entity strength",
+ "vasculature of trunk phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "decreased length of bone of free limb or fin",
+ "decreased length of long bone",
+ "endochondral element phenotype",
+ "subdivision of skeletal system phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "gustatory system phenotype",
+ "absent limb long bone in the forelimb",
+ "metapodium bone 1 phenotype",
+ "anatomical system phenotype",
+ "absent forelimb endochondral element",
+ "Aplasia of the phalanges of the hand",
+ "absent multicellular anatomical structure",
],
- "has_phenotype_count": 25,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py
index 12ce9e156..2b0dc11d1 100644
--- a/backend/tests/fixtures/autocomplete_response.py
+++ b/backend/tests/fixtures/autocomplete_response.py
@@ -21,7 +21,7 @@ def autocomplete_response():
},
},
"response": {
- "num_found": 328,
+ "num_found": 335,
"start": 0,
"docs": [
{
@@ -86,13 +86,13 @@ def autocomplete_response():
"HP:0012210",
"HP:0000081",
"HP:0000085",
- "HP:0003251",
"HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
"HP:0003214",
"HP:0003213",
+ "HP:0003251",
],
"has_phenotype_label": [
"Neutropenia",
@@ -122,1949 +122,1924 @@ def autocomplete_response():
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
- "Male infertility",
"Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
"Prolonged G2 phase of cell cycle",
"Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Male infertility",
],
"has_phenotype_count": 34,
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
+ "HP:0000144",
+ "HP:0000789",
"UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
"UPHENO:0049720",
+ "UPHENO:0049588",
"GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
"HP:0011018",
- "GO:0022403",
"GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
"UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
+ "UPHENO:0049671",
"UPHENO:0002240",
+ "HP:0000598",
+ "UPHENO:0052970",
"UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
+ "HP:0000364",
+ "UPHENO:0052161",
"HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
"UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
"UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
"HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
"UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
"HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "HP:0100542",
"UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
+ "HP:0000085",
"HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
+ "UPHENO:0002386",
"UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
"UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
"UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
+ "UPHENO:0002381",
"UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
"UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0000953",
"HP:0002597",
"UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0011818",
+ "HP:0011354",
"UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
"UPHENO:0004827",
- "MPATH:603",
+ "UPHENO:0002634",
+ "UBERON:0004535",
+ "UBERON:0000948",
+ "UPHENO:9002003",
"UPHENO:0003086",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
"HP:0004377",
- "MPATH:119",
- "UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
"UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
"UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
+ "HP:0012759",
+ "UPHENO:0080079",
"UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
"UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
+ "CL:0000558",
+ "HP:0000152",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
"UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002269",
"UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
"UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "UBERON:0000479",
+ "HP:0002011",
+ "UPHENO:0075220",
"UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "HP:0003251",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UBERON:0012141",
"UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0001893",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
"UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
+ "UPHENO:0049775",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
"UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
"UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "HP:0003251",
- "GO:0008150",
- "UPHENO:0002378",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
"UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
"UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
"UPHENO:0004757",
- "UPHENO:0080352",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
"UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
"UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
+ "UPHENO:0046741",
"UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UPHENO:0025545",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UPHENO:0025135",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:0011533",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "UPHENO:0025546",
- "UPHENO:0025509",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UBERON:0008785",
- "GO:0006139",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "HP:0002011",
- "UPHENO:0011492",
- "UPHENO:0025808",
- "HP:0006503",
- "UPHENO:0002782",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0001003",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
"UPHENO:0026239",
- "UPHENO:0003055",
- "UBERON:0002113",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0002642",
- "UBERON:0005451",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0076703",
"UBERON:0001444",
- "UBERON:0005177",
- "HP:0001911",
- "UPHENO:0027017",
- "UBERON:0002204",
- "UBERON:0000465",
- "HP:0009115",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "UPHENO:0008593",
- "UBERON:0012475",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UPHENO:0026486",
- "UPHENO:0026600",
- "UBERON:0005173",
- "UBERON:0004381",
- "UBERON:0013701",
- "UBERON:0015061",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0027014",
- "UPHENO:0074575",
- "HP:0011842",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0087427",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UBERON:0011143",
- "UPHENO:0009011",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "HP:0003953",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "UPHENO:0025187",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
"HP:0001155",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025661",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0001001",
- "UPHENO:0026507",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UPHENO:0008827",
- "UBERON:0010740",
- "UPHENO:0002750",
- "CL:0000457",
- "UPHENO:0008825",
- "UBERON:5102544",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UPHENO:0002378",
"UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UBERON:0012354",
+ "UPHENO:0026600",
"UPHENO:0026010",
- "UBERON:0010708",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UBERON:0015212",
- "HP:0000078",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "UBERON:0002097",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002926",
- "UPHENO:0009163",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
"HP:0000980",
- "UPHENO:0026309",
- "UPHENO:0026146",
- "UPHENO:0026504",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "HP:0001875",
- "UBERON:0001423",
- "UBERON:0011216",
- "UBERON:0003466",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0026095",
- "HP:0000104",
- "UBERON:0007272",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UPHENO:0009341",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0085302",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
"CL:0000329",
- "HP:0000001",
- "UBERON:0002193",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UBERON:0001434",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0011572",
- "CL:0000255",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0077391",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "UPHENO:0079876",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "HP:0025354",
+ "UPHENO:0012312",
"HP:0011844",
- "UPHENO:0009356",
- "HP:0020047",
- "UBERON:0000467",
- "UBERON:0007100",
- "UBERON:0000468",
- "GO:0050954",
- "UPHENO:0002816",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UBERON:0010741",
- "UPHENO:0025508",
- "HP:0000144",
- "UPHENO:3000004",
- "HP:0009601",
- "GO:0043170",
- "CL:0000219",
- "HP:0000815",
- "UPHENO:0063794",
- "UPHENO:0077399",
- "HP:0000028",
- "UBERON:0005172",
- "UBERON:0015203",
- "UBERON:0000475",
- "HP:0001627",
- "UBERON:0002371",
- "UPHENO:0011498",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002403",
- "UBERON:0003135",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0003094",
- "UBERON:0010000",
- "UPHENO:0002803",
- "UBERON:0001474",
- "CL:0000232",
- "UBERON:0002075",
- "UPHENO:0002738",
- "HP:0100887",
- "CL:0002242",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UBERON:5002389",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0086700",
- "UPHENO:0009366",
- "UBERON:0002389",
- "UPHENO:0002536",
- "UPHENO:0025211",
- "UPHENO:0025811",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0086019",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0012308",
- "CL:0000988",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0000015",
- "CL:0000094",
- "HP:0003213",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0009382",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "GO:0040007",
- "BFO:0000001",
- "UPHENO:0077348",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0031049",
- "HP:0009822",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UPHENO:0026980",
- "UBERON:0015204",
- "UBERON:0000061",
- "UPHENO:0081511",
- "PATO:0000001",
- "HP:0000978",
- "UPHENO:0008865",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0086176",
- "HP:0001874",
- "UPHENO:0076805",
- "UPHENO:0025883",
- "CL:0000775",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0002948",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "HP:0001896",
- "HP:0009823",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0077418",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0026308",
- "UBERON:0000479",
- "HP:0011314",
- "HP:0004323",
- "HP:0032251",
- "HP:0001017",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0002568",
- "UPHENO:0053601",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
"UBERON:0002398",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UBERON:0002513",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
"UBERON:0001015",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0000924",
- "UPHENO:0009344",
- "HP:0033127",
- "HP:0000240",
- "UPHENO:0005058",
- "UBERON:0004176",
- "HP:0000951",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
"UPHENO:0005025",
- "UPHENO:0086016",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0004064",
- "UBERON:0000062",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
"HP:0000035",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0088162",
- "UPHENO:0008545",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0015024",
- "UPHENO:0053559",
- "HP:0001871",
+ "HP:0007364",
+ "HP:0009380",
+ "UBERON:0000061",
"HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "UPHENO:0052231",
+ "CL:0000233",
+ "UBERON:0000075",
+ "CL:0001035",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UBERON:0002199",
+ "UBERON:0001423",
+ "UPHENO:0049757",
"CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0088170",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0010935",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "UPHENO:0002526",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
+ "HP:0005561",
+ "UBERON:0001062",
+ "UPHENO:0002685",
"UBERON:0004765",
- "RO:0002577",
"UBERON:0010712",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "HP:0002817",
- "HP:0001872",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UBERON:0003101",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
+ "UPHENO:0003050",
+ "UBERON:0015001",
"UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0008604",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "UPHENO:0002751",
- "CL:0000233",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002945",
+ "UPHENO:0076799",
"UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
"UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "HP:0000118",
"UBERON:0002529",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
"UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
"UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0084448",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "HP:0011873",
- "UPHENO:0053572",
- "UPHENO:0008816",
- "CL:0000225",
- "UPHENO:0026808",
- "HP:0001876",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "GO:0003008",
- "HP:0025461",
- "UPHENO:0025855",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
"HP:0002818",
- "HP:0011875",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0086173",
- "UBERON:0000079",
- "HP:0001873",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
+ "RO:0002577",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "HP:0012041",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UBERON:0002113",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
"HP:0009778",
- "CL:0000151",
- "UPHENO:0053647",
- "UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002940",
- "UPHENO:0003056",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "UPHENO:0053580",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
"UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0002685",
- "HP:0000811",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0002523",
- "HP:0012243",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0041821",
- "HP:0000032",
- "UBERON:0019231",
- "UBERON:0006048",
+ "UPHENO:0002750",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UBERON:0010912",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "HP:0001903",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0000473",
+ "UPHENO:0079872",
"UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "UPHENO:0009129",
- "CL:0000763",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
+ "UPHENO:0004507",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
"UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0009391",
- "UBERON:0002417",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668",
- ],
- "has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
+ "UBERON:0000481",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "MPATH:603",
+ "UPHENO:0025845",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0011582",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "HP:0000978",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0000543",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "HP:0009943",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
+ "HP:0032251",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "HP:0012210",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003811",
+ "UPHENO:0086176",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0080377",
+ "UPHENO:0085371",
+ "HP:0011893",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002632",
+ "UPHENO:0004064",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0003227",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0004710",
+ "UPHENO:0075944",
+ "HP:0001871",
+ "UPHENO:0025211",
+ "UPHENO:0077391",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0010708",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0063722",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0002526",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "CL:0000255",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0086633",
+ "UPHENO:0025585",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0009129",
+ "UPHENO:0011498",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "CL:0000094",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UBERON:0002193",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "UPHENO:0009163",
+ "HP:0009115",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "UBERON:0011216",
+ "MPATH:105",
+ "CL:0000988",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0010987",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0011531",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0026507",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0076692",
+ "UPHENO:0025497",
+ "UBERON:0000467",
+ "HP:0001881",
+ ],
+ "has_phenotype_closure_label": [
+ "Infertility",
+ "Decreased fertility in males",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
"cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
"decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Hearing abnormality",
"Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
"decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
"Abnormal eye physiology",
"structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
"Growth delay",
- "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
"decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
+ "localised trunk region element",
"localised cavitated compound organ",
"localised lateral structure",
+ "Ectopic kidney",
"localised compound organ",
- "Male infertility",
- "Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
"U-shaped anatomical entity",
"3-D shape anatomical entity",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
+ "Abnormal localization of kidney",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
"decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
"Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
"Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
+ "Localized skin lesion",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
"Cafe-au-lait spot",
"Hypermelanotic macule",
- "Hyperpigmentation of the skin",
- "increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Anemia",
+ "material anatomical entity",
+ "superficial fascia",
+ "Abnormality of the eye",
"pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "biological_process rate phenotype",
"primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "heart",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "multicellular organism phenotype",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
+ "biological_process phenotype",
"autopod bone",
- "manual digit 1 digitopodial skeleton",
+ "acropodial skeleton",
"manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
+ "Duplication of bones involving the upper extremities",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
"phalanx of manus",
- "phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
"cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
+ "decreased functionality of the gonad",
"Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
"forebrain",
- "telencephalon",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
"Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
"central nervous system",
- "axial skeleton plus cranial skeleton",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
"postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
+ "cranial skeletal system",
"Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
"negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
"negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
"process",
+ "skin of body morphology phenotype",
"Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "growth phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
"decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
+ "anatomical structure physiology phenotype",
"orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
"craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
"Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
"absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
- "nervous system phenotype",
- "limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
- "decreased size of the anatomical entity in the pectoral complex",
- "myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
"subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "lateral structure phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
+ "reproductive organ phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
"digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
"decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
"Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
"negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
"segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
- "decreased number of anatomical entity",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
"absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
"digit 1 or 5 phenotype",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
"decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
"Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
+ "biological_process",
"Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "Abnormal reproductive system morphology",
"Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
- "number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "localised multicellular anatomical structure",
+ "aplasia or hypoplasia of radius bone",
+ "vasculature phenotype",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cardiovascular system",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
"Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
+ "erythrocyte",
+ "absent bone of pectoral complex in the limb",
+ "tissue",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
"skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
+ "pectoral complex",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
"absent multicellular anatomical structure in the limb",
+ "delayed biological_process",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
"musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
"absent bone of appendage girdle complex",
- "oxygen accumulating cell",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "musculoskeletal system phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
"number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
"paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
+ "radius endochondral element",
+ "circulatory system phenotype",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
"bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
"absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
"forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
"anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
"decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
"non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
"appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
"long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "multicellular organism mass phenotype",
+ "endochondral element",
"skeleton phenotype",
+ "material entity",
"anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent mesoderm-derived structure in the multicellular organism",
- "anucleate cell",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "Male infertility",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "lateral structure phenotype",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
"pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "Abnormality of head or neck",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
+ "number of cell phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "Duplication of thumb phalanx",
+ "Short thumb",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
+ "forelimb long bone",
+ "thoracic cavity element",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
+ "Abnormal leukocyte count",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "cardiovascular system morphology phenotype",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
"localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "absent lateral structure",
+ "cellular organisms",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
+ "compound organ",
+ "Eukaryota",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
"Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
+ "excretory system",
+ "renal system morphology phenotype",
+ "eye phenotype",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
+ "upper limb segment phenotype",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "heart plus pericardium",
+ "absent anatomical entity",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "circulatory organ phenotype",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "skin of body phenotype",
+ "absent abdominal segment element in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal skin morphology",
+ "regional part of nervous system",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "integumental system phenotype",
+ "limb phenotype",
+ "circulatory disorder",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "immune system",
+ "decreased number of leukocyte",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "arm bone",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "root",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "Renal hypoplasia/aplasia",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Pallor",
+ "continuant",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organ phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "paired limb/fin segment",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "abdominal segment of trunk",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "entity",
+ "decreased number of anatomical entity",
+ "abdomen element phenotype",
+ "mesoderm-derived structure",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "Abnormal neutrophil count",
+ "Decreased fertility",
+ "anatomical entity",
+ "absent autopodial extension",
+ "integumental system",
+ "regulation of biological process",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "renal system",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "granulocyte morphology phenotype",
+ "Abnormality of the genitourinary system",
+ "paired limb/fin skeleton phenotype",
+ "regulation of gene expression",
+ "Generalized abnormality of skin",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "neutrophil phenotype",
+ "Cryptorchidism",
+ "nervous system physiology phenotype",
+ "vascular system",
+ "nucleate cell",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormal bleeding",
+ "cell",
+ "appendicular skeletal system",
+ "anatomical system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
],
},
{
@@ -2098,21 +2073,17 @@ def autocomplete_response():
"HP:0001510",
"HP:0001511",
"HP:0009777",
- "HP:0000568",
"HP:0009892",
"HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
"HP:0011968",
"HP:0001321",
- "HP:0000431",
"HP:0000175",
"HP:0000054",
"HP:0002575",
- "HP:0005528",
"HP:0000238",
"HP:0000437",
"HP:0000316",
@@ -2121,10 +2092,14 @@ def autocomplete_response():
"HP:0001903",
"HP:0000957",
"HP:0000122",
- "HP:0000089",
"HP:0002023",
"HP:0002188",
"HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
+ "HP:0000089",
],
"has_phenotype_label": [
"Bilateral talipes equinovarus",
@@ -2136,21 +2111,17 @@ def autocomplete_response():
"Growth delay",
"Intrauterine growth retardation",
"Absent thumb",
- "Microphthalmia",
"Anotia",
"Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
"Feeding difficulties",
"Cerebellar hypoplasia",
- "Wide nasal bridge",
"Cleft palate",
"Micropenis",
"Tracheoesophageal fistula",
- "Bone marrow hypocellularity",
"Hydrocephalus",
"Depressed nasal tip",
"Hypertelorism",
@@ -2159,15299 +2130,14911 @@ def autocomplete_response():
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
- "Renal hypoplasia",
"Anal atresia",
"Delayed CNS myelination",
"Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
+ "Renal hypoplasia",
],
"has_phenotype_count": 36,
"has_phenotype_closure": [
- "UBERON:0035639",
- "HP:0000582",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
"HP:0030669",
- "UBERON:0001711",
- "UBERON:0034921",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
"HP:0008050",
- "UPHENO:0002643",
- "UPHENO:0003085",
- "GO:0007399",
- "GO:0032291",
- "GO:0042552",
- "GO:0022008",
- "GO:0021782",
- "GO:0008366",
- "GO:0048468",
- "UPHENO:0050734",
- "GO:0048731",
- "UPHENO:0000554",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
+ "GO:0007272",
+ "UPHENO:0000553",
+ "UPHENO:0050121",
+ "GO:0022010",
"UPHENO:0000555",
- "GO:0048709",
- "GO:0042063",
- "GO:0014003",
- "UPHENO:0051450",
- "UPHENO:0050406",
- "UPHENO:0000558",
"HP:0002188",
- "GO:0009987",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
"UPHENO:0050379",
- "GO:0007272",
- "GO:0048869",
- "UPHENO:0000552",
- "UPHENO:0050121",
- "UPHENO:0063596",
"UBERON:0000161",
- "UPHENO:0086644",
- "HP:0004378",
- "UPHENO:0074227",
- "UPHENO:0063581",
+ "UPHENO:0063596",
"HP:0034915",
- "HP:0002023",
- "UBERON:0001245",
- "HP:0000089",
- "UBERON:0011143",
- "UPHENO:0076779",
- "HP:0000079",
- "UPHENO:0011770",
- "UPHENO:0026600",
- "UPHENO:0011931",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
"HP:0008678",
- "UPHENO:0087427",
- "HP:0012447",
- "UPHENO:0026308",
- "UPHENO:0026980",
- "HP:0000104",
- "HP:0032039",
- "UBERON:0000489",
+ "UBERON:0001008",
+ "UPHENO:0009011",
"UPHENO:0011559",
"UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
"UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
"HP:0000077",
"UPHENO:0002803",
- "UPHENO:0008827",
- "UPHENO:0000553",
- "UBERON:0000916",
+ "UPHENO:3000004",
"UBERON:8450002",
- "UPHENO:0003094",
+ "UBERON:0011143",
+ "UPHENO:0075902",
"UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0009129",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "HP:0001034",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
"UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000492",
- "UPHENO:0002812",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
"HP:0000953",
- "UPHENO:0076739",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
"UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "HP:0001000",
- "HP:0005927",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0008736",
- "CL:0000763",
- "UBERON:0001442",
- "UBERON:0012140",
- "UBERON:0002544",
- "HP:0012733",
- "UBERON:0006048",
- "HP:0011400",
- "UPHENO:0009382",
- "UPHENO:0052778",
- "HP:0000238",
- "UPHENO:0005647",
- "UPHENO:0004476",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UBERON:0001691",
- "UBERON:0012139",
- "UPHENO:0002585",
- "HP:0001510",
- "UPHENO:0049775",
- "UPHENO:0011825",
- "UPHENO:0052855",
- "UPHENO:0002269",
- "UBERON:0008340",
- "UPHENO:0086700",
- "UPHENO:0002385",
- "UBERON:0010363",
- "HP:0000568",
- "GO:0009790",
- "UPHENO:0004956",
- "UPHENO:0005433",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
"UPHENO:3000007",
- "UPHENO:0002934",
- "NBO:0000604",
- "HP:0000707",
- "UPHENO:0025666",
- "HP:0025766",
- "GO:0008150",
- "UBERON:5002389",
- "HP:0000708",
- "HP:0000752",
- "HP:0012639",
- "HP:0025461",
- "HP:0025732",
- "UPHENO:0002648",
- "HP:0007018",
- "UBERON:0002028",
- "GO:0050877",
- "UBERON:0011138",
- "UPHENO:0081320",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "HP:0000465",
- "UBERON:0004921",
- "UPHENO:0002828",
- "UPHENO:0003074",
- "UPHENO:0050063",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0025497",
- "HP:0002973",
- "UPHENO:0025961",
- "UPHENO:0002983",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
"UPHENO:0001570",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0026073",
- "GO:0031323",
- "UPHENO:0025547",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0080281",
- "UPHENO:0076800",
- "UPHENO:0002751",
- "UPHENO:0076720",
- "HP:0009825",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0002880",
- "UPHENO:0002969",
- "HP:0002715",
- "BFO:0000003",
- "UPHENO:0008430",
- "UBERON:0005881",
- "UPHENO:0080171",
- "UPHENO:0076718",
- "UPHENO:0076786",
- "UPHENO:0025136",
- "UPHENO:0003514",
- "HP:0000152",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "HP:0025780",
- "UBERON:0000978",
- "HP:0002817",
- "HP:0008551",
- "UPHENO:0002905",
- "UPHENO:0008475",
- "UPHENO:0009399",
- "UPHENO:0053456",
- "UPHENO:0069236",
- "GO:0030154",
- "UBERON:0008962",
- "UPHENO:0011817",
- "UBERON:0015001",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "HP:0001574",
- "UPHENO:0002267",
- "UPHENO:0081784",
- "UBERON:0003606",
- "UPHENO:0081451",
- "UPHENO:0003227",
- "UPHENO:0056333",
- "UPHENO:3000004",
- "UPHENO:0026312",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
+ "UPHENO:0002754",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
"UBERON:0000167",
- "UPHENO:0002632",
- "HP:0011297",
- "UPHENO:0052178",
- "HP:0000812",
- "UBERON:0010712",
- "UBERON:0011249",
- "UBERON:0001440",
- "UPHENO:0054970",
- "UPHENO:0025845",
- "UBERON:0034925",
- "UPHENO:0002659",
- "GO:0050789",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0001008",
- "HP:0010460",
- "UBERON:0002428",
- "UPHENO:0025587",
- "UPHENO:0004523",
- "UPHENO:0080158",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
"UBERON:0001716",
- "UPHENO:0002719",
- "UPHENO:0002870",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
+ "UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
"UPHENO:0087349",
- "UPHENO:0025661",
- "HP:0001511",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
"GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0025507",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0002546",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0001584",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0014240",
- "UBERON:0015061",
- "UBERON:0001558",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UPHENO:0026628",
- "UBERON:0003975",
- "HP:0040070",
- "UPHENO:0009337",
- "UPHENO:0002600",
- "UPHENO:0008865",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "UPHENO:0009341",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UBERON:0002413",
- "HP:0012252",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0026506",
- "GO:0048856",
- "UBERON:0004708",
- "UPHENO:0009366",
- "UPHENO:0011749",
- "UPHENO:0025509",
- "UPHENO:0079872",
- "UPHENO:0076727",
- "UPHENO:0026344",
- "HP:0005922",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UPHENO:0004459",
- "UBERON:0007914",
- "UPHENO:0026082",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
"UBERON:0000474",
- "HP:0000277",
- "UBERON:0010708",
- "UBERON:0002091",
- "UBERON:0000026",
- "HP:0005561",
- "UPHENO:0075877",
- "UPHENO:0025852",
- "UPHENO:0041080",
- "UPHENO:0079876",
- "UPHENO:0025808",
- "UPHENO:0005029",
- "HP:0008684",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "PATO:0000001",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0080087",
- "UPHENO:0087806",
- "UPHENO:0002901",
- "UPHENO:0004418",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0003082",
- "UPHENO:0033572",
- "UBERON:0004111",
- "UPHENO:0087006",
- "UBERON:0001032",
- "UBERON:0003134",
- "UPHENO:0002818",
- "HP:0006496",
- "HP:0000925",
- "HP:0011844",
- "HP:0000357",
- "UBERON:0010364",
- "UPHENO:0008825",
- "UPHENO:0087278",
- "HP:5201015",
- "UPHENO:0018414",
- "HP:0008518",
- "UPHENO:0005170",
- "UPHENO:0002785",
- "UPHENO:0026146",
- "UPHENO:0075998",
- "UBERON:0013701",
- "UBERON:0011676",
- "HP:0000130",
- "HP:0005105",
- "UPHENO:0002868",
- "UPHENO:0001072",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
"UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0002948",
- "UBERON:0000475",
- "UPHENO:0081099",
- "HP:0003953",
- "UPHENO:0014320",
- "UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0005008",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0063580",
- "UBERON:0000020",
- "UPHENO:0087433",
- "UPHENO:0002763",
- "HP:0000118",
- "UBERON:0001690",
- "UPHENO:0002838",
- "HP:0000377",
- "UBERON:0010314",
- "UPHENO:0011557",
- "UPHENO:0011492",
- "HP:0002011",
- "HP:0030791",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UBERON:0000974",
- "UPHENO:0002750",
- "UPHENO:0025187",
- "UPHENO:0076752",
- "UPHENO:0025135",
- "UPHENO:0081783",
- "UPHENO:0014971",
- "UBERON:0003690",
- "HP:0000369",
- "HP:0006501",
- "UPHENO:0050034",
- "UPHENO:0011498",
- "UPHENO:0011538",
- "BFO:0000020",
- "UPHENO:0004595",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
"UBERON:0002101",
- "HP:0040072",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0009305",
- "UPHENO:0008640",
- "UBERON:0000033",
- "HP:0003974",
- "UPHENO:0009181",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "HP:0000122",
- "HP:0000929",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0079826",
- "UBERON:0008001",
- "UPHENO:0002650",
- "UPHENO:0004909",
- "UPHENO:0005022",
- "UBERON:0005181",
- "UPHENO:0002531",
- "UBERON:0000467",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "HP:0002977",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "NBO:0000011",
- "UPHENO:0026630",
- "UPHENO:0076754",
"UBERON:0004122",
- "HP:0034261",
- "UPHENO:0086932",
- "UPHENO:0080382",
- "GO:0050794",
- "UBERON:0001444",
- "HP:0005656",
- "UBERON:0005177",
- "UPHENO:0002987",
- "UBERON:0004765",
- "UPHENO:0006147",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0019231",
- "UPHENO:0081575",
- "UBERON:0003466",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0009344",
- "UPHENO:0003411",
- "HP:0001172",
- "UPHENO:0011572",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0011158",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UBERON:0011159",
- "BFO:0000001",
- "UBERON:0002398",
- "UPHENO:0002568",
- "HP:0002692",
- "UPHENO:0000556",
- "UPHENO:0002731",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
"UBERON:0003828",
- "UPHENO:0056237",
- "HP:0002814",
- "UPHENO:0068971",
- "HP:0000736",
- "UBERON:0000004",
- "UPHENO:0002942",
- "UBERON:0003457",
- "UPHENO:0001001",
- "UBERON:0002090",
- "UBERON:0003113",
- "UPHENO:0063579",
- "UPHENO:0026486",
- "UPHENO:0005424",
- "UBERON:0010538",
- "UPHENO:0002971",
- "GO:0007417",
- "NBO:0000308",
- "UBERON:0007196",
- "UPHENO:0002772",
- "UPHENO:0026808",
- "UBERON:0002199",
- "UPHENO:0002761",
- "UBERON:0008785",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
"UPHENO:0080196",
- "UPHENO:0003460",
- "UPHENO:0086172",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
"HP:0000001",
- "CL:0000329",
- "UPHENO:0008743",
- "UPHENO:0003020",
- "UPHENO:0002593",
- "RO:0002577",
- "UBERON:0010709",
- "UBERON:0005174",
- "UPHENO:0004494",
- "UPHENO:0025739",
- "UPHENO:0025811",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
"UPHENO:0026984",
- "UBERON:0000153",
- "UBERON:0002102",
- "UPHENO:0000543",
+ "UPHENO:0002715",
+ "UBERON:0004247",
"HP:0009380",
- "UPHENO:0002536",
- "UPHENO:0086595",
- "UPHENO:0081786",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "HP:0006503",
- "UPHENO:0026227",
- "UPHENO:0002782",
- "HP:0001760",
- "UPHENO:0002976",
- "UPHENO:0041203",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "HP:0001507",
- "UPHENO:0063565",
- "UPHENO:0086589",
- "BFO:0000040",
- "UBERON:0000072",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "HP:0002813",
- "HP:0010938",
- "UPHENO:0025776",
- "BFO:0000015",
- "UPHENO:0087907",
- "HP:0000163",
- "UPHENO:0049622",
- "UBERON:0002495",
- "UPHENO:0008523",
- "HP:0005607",
- "UPHENO:0069266",
- "UPHENO:0002736",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0025243",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "HP:0009121",
- "UPHENO:0026507",
- "UPHENO:0025553",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UBERON:0010313",
- "UPHENO:0074245",
- "UPHENO:0002957",
- "HP:0009822",
- "GO:0031049",
- "GO:0032502",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
+ "UPHENO:0075948",
"UPHENO:0002833",
- "UPHENO:0063559",
- "UPHENO:0041226",
- "UPHENO:0081210",
- "UPHENO:0080325",
- "HP:0000734",
- "HP:0007400",
- "UBERON:0000154",
- "UPHENO:0088186",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UBERON:0011584",
- "UPHENO:0003095",
- "HP:0011842",
- "UPHENO:0008668",
- "UPHENO:0025817",
- "HP:0100543",
- "UPHENO:0002550",
- "UPHENO:0080187",
- "UPHENO:0009011",
- "NCBITaxon:33208",
- "UPHENO:0008487",
- "HP:0009118",
- "UPHENO:0008593",
- "UBERON:0004710",
- "UPHENO:0002732",
- "UPHENO:0003412",
- "BFO:0000004",
- "UBERON:0000075",
- "UPHENO:0009209",
- "UBERON:0003462",
- "UPHENO:0080165",
- "UPHENO:0009163",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
"HP:0002795",
- "UPHENO:0002926",
- "UPHENO:0026010",
- "UPHENO:0002725",
- "HP:0100887",
- "UPHENO:0080300",
- "UPHENO:0084763",
- "UPHENO:0002963",
- "HP:0001883",
- "UBERON:0002100",
- "UPHENO:0005986",
- "UPHENO:0075890",
- "HP:0000356",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0015203",
- "UBERON:0002514",
- "UBERON:0000019",
- "CL:0002092",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UBERON:0004120",
- "UPHENO:0025166",
- "UPHENO:0087472",
- "HP:0000598",
- "HP:0012448",
- "UPHENO:0004173",
- "GO:0010001",
- "NBO:0000455",
- "UPHENO:0003413",
- "UPHENO:0050372",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0003070",
- "UBERON:0003463",
- "HP:0000234",
- "UBERON:0007272",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
"UPHENO:0080099",
- "UPHENO:0087510",
- "UBERON:0001684",
- "UBERON:0002105",
- "UPHENO:0002928",
- "HP:0011821",
- "HP:0010935",
- "UPHENO:0041041",
- "UPHENO:0005092",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0063639",
- "HP:0009116",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0042592",
- "UPHENO:0081141",
- "HP:0009122",
- "UBERON:0007811",
- "UBERON:0012360",
- "UBERON:0005451",
- "UBERON:0001555",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
"HP:0025668",
- "UPHENO:0084457",
- "UBERON:0006717",
- "UPHENO:0002910",
- "UBERON:0000165",
- "UPHENO:0080110",
- "HP:0025031",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
"UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0050106",
- "UPHENO:0082875",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0011533",
- "NBO:0000607",
- "UPHENO:0026074",
- "GO:0060255",
- "UPHENO:0026095",
- "UBERON:0000064",
- "UBERON:0000117",
- "GO:0031326",
- "UPHENO:0080010",
- "UBERON:0001270",
- "UPHENO:0063558",
- "UBERON:0011137",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
"UBERON:0001463",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "HP:0001263",
- "HP:0000036",
- "UPHENO:0002746",
- "UPHENO:0026514",
- "UPHENO:0003029",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0011563",
- "HP:0009823",
- "UPHENO:0002994",
- "UPHENO:0081091",
- "UPHENO:3000000",
- "UBERON:0001456",
- "HP:0012433",
- "UBERON:0002355",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0076703",
- "UPHENO:0002988",
- "HP:0031816",
- "UPHENO:0003811",
- "UPHENO:0081788",
- "HP:0040064",
- "UPHENO:0003004",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
"UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0074231",
- "UPHENO:0004704",
- "UPHENO:0002694",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0009295",
- "UPHENO:0005230",
- "UPHENO:0002721",
- "UPHENO:0081566",
- "HP:5200263",
- "UBERON:0004709",
- "UPHENO:0027017",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002927",
- "UBERON:0011156",
- "HP:0002031",
- "HP:0000347",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002559",
- "GO:0007610",
- "UPHENO:0026098",
- "UPHENO:0088168",
- "UBERON:0000062",
- "HP:0033127",
- "UBERON:0007842",
- "HP:0000119",
- "HP:0011446",
- "UPHENO:0088116",
- "HP:0009892",
- "BFO:0000141",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0002896",
- "UBERON:0001043",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UPHENO:0008709",
- "HP:0012638",
- "UPHENO:0026239",
- "GO:0050890",
- "UPHENO:0086633",
- "HP:0001762",
- "UBERON:5006048",
- "UBERON:0012477",
- "HP:0000437",
"UPHENO:0009146",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0008548",
- "HP:0009777",
- "UBERON:0005156",
- "UBERON:0004456",
- "UPHENO:0005058",
- "UPHENO:0025215",
- "UPHENO:0063599",
- "UBERON:0004176",
- "UPHENO:0063577",
- "UBERON:0005172",
- "UBERON:0005358",
- "HP:0000951",
- "UPHENO:0004788",
- "HP:0000315",
- "UPHENO:0076785",
- "UBERON:0004923",
- "UBERON:0006800",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0068914",
- "UPHENO:0004757",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UPHENO:0069161",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
+ "CL:0000000",
"UBERON:0003278",
- "UBERON:0004088",
- "UPHENO:0018426",
- "HP:0011282",
- "UBERON:0000970",
- "UPHENO:0080209",
- "HP:0008056",
- "HP:0012372",
- "UBERON:0015007",
- "HP:0001317",
- "HP:0000478",
- "UBERON:0005179",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
+ "UPHENO:0008548",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
"UPHENO:0005573",
- "HP:0010461",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
"UPHENO:0003410",
- "UBERON:0000047",
- "UPHENO:0056149",
- "UPHENO:0069064",
- "GO:0010468",
- "UPHENO:0069523",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "UPHENO:0081095",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "UPHENO:0008545",
- "UPHENO:0050068",
- "UPHENO:0025777",
- "HP:0008771",
- "UPHENO:0002532",
- "UPHENO:0025570",
- "UPHENO:0080111",
- "UBERON:0001015",
- "UPHENO:0025234",
- "UBERON:0003100",
- "UPHENO:0074232",
- "UPHENO:0025855",
- "HP:0008772",
- "UPHENO:0025708",
- "HP:0000464",
- "UPHENO:0026706",
- "UPHENO:0005104",
- "UPHENO:0081585",
- "UPHENO:0026023",
- "UPHENO:0026280",
- "UPHENO:0003101",
- "UPHENO:0025882",
- "UBERON:0012128",
- "HP:0004590",
+ "HP:5200263",
+ "HP:0000202",
+ "UPHENO:0002910",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
+ "GO:0008150",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
+ "HP:0025031",
"HP:5200241",
- "UPHENO:0008604",
- "UBERON:0006075",
- "UBERON:0005473",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002813",
- "HP:0000422",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UPHENO:0003027",
- "UPHENO:0003092",
- "UBERON:0004908",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
"UPHENO:0005106",
- "UPHENO:0003038",
- "UBERON:0005173",
- "UPHENO:0075804",
- "UBERON:0006077",
- "UPHENO:0003093",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0063563",
- "UPHENO:0041458",
- "UBERON:0009569",
- "UPHENO:0003812",
- "UPHENO:0011739",
- "UBERON:0004247",
- "UBERON:0000025",
- "UPHENO:0081328",
- "HP:0011017",
- "UPHENO:0002616",
- "UPHENO:0025955",
+ "HP:0000130",
+ "UPHENO:0081511",
"UPHENO:0002755",
- "UPHENO:0003002",
- "HP:0008517",
- "UPHENO:0075902",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0002654",
- "UPHENO:0076761",
- "HP:0005107",
- "UPHENO:0074237",
- "HP:0000008",
- "HP:0011968",
- "UPHENO:0087974",
- "UBERON:0000993",
- "UPHENO:0056250",
- "UBERON:0003133",
- "BFO:0000002",
- "UBERON:0004089",
- "UPHENO:0025631",
- "UPHENO:0009391",
- "UPHENO:0002448",
- "HP:0000151",
- "UBERON:0000464",
- "UBERON:0000990",
- "UPHENO:0027020",
- "UBERON:0008907",
- "UPHENO:0001304",
- "UBERON:0005944",
- "UBERON:0000995",
- "UPHENO:0049743",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
"UBERON:0004175",
- "UBERON:0005409",
- "UPHENO:0003952",
- "UBERON:0003103",
- "UPHENO:0087547",
- "GO:0022010",
- "HP:0000309",
- "UPHENO:0076766",
- "UPHENO:0026152",
- "UPHENO:0011847",
- "UPHENO:0074229",
- "UPHENO:0003053",
- "UPHENO:0009115",
+ "UBERON:0001440",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
"UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
"UPHENO:0025195",
- "UPHENO:0002977",
- "UPHENO:0008850",
- "UPHENO:0009031",
- "UPHENO:0025401",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0026529",
- "GO:0048523",
- "UPHENO:0011485",
- "UPHENO:0002646",
- "UPHENO:0009396",
- "UPHENO:0002598",
- "UPHENO:0056226",
- "UPHENO:0026407",
- "UPHENO:0027008",
- "UPHENO:0026014",
- "UPHENO:0002642",
- "UBERON:0001017",
- "UPHENO:0025875",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
+ "UPHENO:0027017",
+ "NCBITaxon:2759",
"UBERON:0004756",
- "UPHENO:0004709",
- "UPHENO:0002523",
- "HP:0012243",
- "UPHENO:0002687",
- "UPHENO:0002955",
- "UPHENO:0026509",
- "UBERON:0005434",
- "UPHENO:0033599",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046571",
- "HP:0000470",
- "CL:0000988",
- "UPHENO:0074360",
- "UBERON:0003129",
- "HP:0003319",
- "UPHENO:0063586",
- "UBERON:0008811",
- "UPHENO:0087563",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UBERON:0010913",
- "UPHENO:0002674",
- "UPHENO:0002769",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UBERON:0002412",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0001025",
- "UPHENO:0046483",
- "HP:0012759",
- "HP:0200006",
- "HP:0012758",
- "HP:0025354",
- "CL:0000000",
- "UPHENO:0074310",
- "HP:0000316",
- "UPHENO:0050778",
- "HP:0000153",
- "UPHENO:0002907",
- "GO:0008152",
- "UPHENO:0076740",
- "GO:0065007",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
+ "UBERON:0005409",
"UPHENO:0005642",
- "UPHENO:0025176",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
"UPHENO:0011548",
- "GO:0031327",
- "UPHENO:0076760",
- "GO:0010558",
- "HP:0001939",
- "UBERON:0000989",
- "GO:0043473",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0025883",
- "HP:0000431",
- "UPHENO:0050065",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "GO:0010556",
- "UPHENO:0049642",
- "HP:0040012",
- "UBERON:0002416",
- "NBO:0000313",
- "GO:0048519",
- "GO:0019222",
- "UPHENO:0050784",
- "HP:0003221",
- "UPHENO:0004536",
- "UPHENO:0078606",
- "HP:0012760",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0026940",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0050126",
- "UPHENO:0074230",
- "GO:0009889",
- "HP:0000366",
- "UPHENO:0074329",
- "UPHENO:0074228",
- "UBERON:0002405",
- "HP:0002032",
- "UBERON:0000915",
- "UPHENO:0002830",
- "UPHENO:0063575",
- "HP:0002589",
- "UPHENO:0074335",
- "UPHENO:0081511",
- "UPHENO:0003086",
- "HP:0011024",
- "UPHENO:0063574",
- "UPHENO:0004486",
- "UBERON:0010323",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0075655",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "BFO:0000002",
+ "UPHENO:0063563",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
"UPHENO:0063603",
+ "UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
+ "UPHENO:0003460",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0007811",
"HP:0045060",
- "UPHENO:0063576",
- "GO:0032501",
- "UPHENO:0074330",
- "HP:0011458",
- "HP:0025032",
- "UPHENO:0002443",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0031703",
- "HP:0000050",
- "UPHENO:0025585",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0002575",
- "UPHENO:0049620",
- "UBERON:0001895",
- "HP:5200044",
- "UPHENO:0004802",
- "UBERON:0013702",
- "UPHENO:0006173",
- "NCBITaxon:1",
- "UPHENO:0076791",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
"HP:0100886",
- "UBERON:0001710",
- "UPHENO:0081601",
- "UPHENO:0003459",
- "UPHENO:0069327",
- "UPHENO:0002715",
- "UPHENO:0004521",
- "UPHENO:0081581",
- "UBERON:0001423",
"UPHENO:0002964",
- "UBERON:0000481",
- "UBERON:0004733",
- "UBERON:0002616",
- "UBERON:0013515",
- "UPHENO:0072264",
- "UPHENO:0018390",
- "UBERON:0000955",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0056242",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
"UPHENO:0080089",
- "UPHENO:0075948",
- "UPHENO:0076702",
- "HP:0012443",
- "HP:0007360",
- "UBERON:0002104",
- "UPHENO:0056230",
- "UPHENO:0003069",
- "UPHENO:0008689",
- "HP:0011283",
- "NCBITaxon:2759",
- "UPHENO:0003936",
- "UBERON:0000073",
- "UPHENO:0002433",
- "UPHENO:0002722",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "UPHENO:0087585",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
+ "UBERON:0000026",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
+ "UPHENO:0002586",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
"UPHENO:0002685",
- "UPHENO:0001134",
- "GO:0031324",
- "UBERON:0004119",
- "UPHENO:0087950",
- "UPHENO:0086635",
- "UBERON:0006333",
- "HP:0009115",
- "UPHENO:0003067",
- "UBERON:0002268",
- "UBERON:0011216",
- "UPHENO:0006146",
- "UPHENO:0006161",
- "UPHENO:0001303",
- "UPHENO:0006140",
- "UPHENO:0033592",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UPHENO:0004520",
- "UPHENO:0033560",
- "UBERON:0000466",
- "UPHENO:0081314",
- "UPHENO:0002962",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
"UPHENO:0033612",
- "UBERON:0002553",
- "UBERON:0007827",
- "UPHENO:0033587",
- "HP:0000202",
- "UBERON:0001004",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0033589",
- "UPHENO:0086824",
- "UPHENO:0002891",
- "UBERON:0004732",
- "HP:0000175",
- "UPHENO:0009021",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0026097",
- "UPHENO:0002595",
- "HP:0003241",
- "HP:0000054",
- "UBERON:0007779",
- "UBERON:0003135",
- "UBERON:0000079",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0005025",
- "UBERON:0001708",
- "UPHENO:0002697",
- "UPHENO:0003058",
- "UBERON:0004053",
- "UBERON:0003101",
- "UPHENO:0008816",
- "HP:0000032",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UPHENO:0002754",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "HP:0002778",
- "UBERON:0002193",
- "UBERON:0002390",
- "UPHENO:0002651",
- "UBERON:0002371",
- "UPHENO:0003065",
- "HP:0005528",
- "HP:0006265",
- "HP:0000811",
- "HP:0001871",
- "HP:0012145",
- "UBERON:0000479",
- "UBERON:0004086",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
"UPHENO:0014351",
- "UPHENO:0014292",
- "UPHENO:0088047",
- "UPHENO:0015184",
- "UBERON:0001359",
- "UPHENO:0014761",
- "NCBITaxon:131567",
- "UPHENO:0014291",
- "UPHENO:0014865",
- "UPHENO:0056158",
- "UBERON:0002103",
- "UBERON:0003947",
- "HP:0002921",
- "UPHENO:0088185",
- "UBERON:0000463",
- "UPHENO:0011845",
- "UPHENO:0063615",
- "UPHENO:0056251",
- "UBERON:0001137",
- "UPHENO:0056150",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
"UBERON:0006983",
- "HP:0000436",
- "UPHENO:0087430",
- "UPHENO:0041098",
- "UPHENO:0002837",
- "UPHENO:0025508",
- "UBERON:0034929",
- "UBERON:0001709",
- "UPHENO:0002668",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0002727",
- "UBERON:0000015",
- "UPHENO:0072195",
- "HP:0001321",
- "UPHENO:0018424",
- "UPHENO:0025544",
- "UPHENO:0002864",
+ "UBERON:0003463",
+ "UBERON:0011137",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
"UPHENO:0072200",
- "UBERON:0001005",
- "UPHENO:0005016",
- "UPHENO:0072194",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
+ "UPHENO:0080377",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "UPHENO:0063562",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
"HP:0001776",
- "UPHENO:0072185",
- "UPHENO:0002887",
- "UBERON:0010222",
- "UPHENO:0009192",
- "CL:0001035",
- "UPHENO:0081119",
- "UPHENO:0088162",
- "UPHENO:0026183",
- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
- "CL:0000764",
- "UPHENO:0088170",
- "HP:0001903",
- "HP:0001877",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- ],
- "has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
+ "UBERON:5002389",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
+ "UPHENO:0003049",
+ "UBERON:0002102",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708",
+ ],
+ "has_phenotype_closure_label": [
+ "kidney hypoplasia",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
+ "decreased length of neck",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
+ "decreased size of the anatomical entity",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
"ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
"central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
+ "nervous system development",
+ "myelination",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
"oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
"anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
"Abnormality of the anus",
- "anatomical conduit atresia",
- "anus",
- "orifice phenotype",
- "kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
+ "absent multicellular anatomical structure in the renal system",
"absent abdomen element in the renal system",
- "upper urinary tract",
- "kidney phenotype",
- "Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
"absent material anatomical entity in the renal system",
"absent cavitated compound organ",
- "absent lateral structure in the renal system",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
"absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
"abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "cavitated compound organ",
- "abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
"Abnormality of the skin",
- "renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
- "manus morphology phenotype",
- "absent uterus",
- "reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
"skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
- "Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
- "decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
- "Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
+ "Abnormal erythrocyte morphology",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
"increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
"flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
- "Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
"anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
- "absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
- "myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "Abnormal forearm morphology",
- "vertebral column",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
"increased number of anatomical entity",
- "absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
- "Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
- "forelimb zeugopod bone",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
"brain ventricle",
- "pectoral appendage",
- "bone element",
- "absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
- "anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
- "Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
"secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
- "sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
+ "oral cavity",
+ "orifice",
"Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
- "craniocervical region",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
- "multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
+ "renal system",
"midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
+ "organ subunit",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "Abnormal hindbrain morphology",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
"decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
+ "segmental subdivision of nervous system",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
"homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
- "dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
"Abnormality of the digestive system",
- "closing of the thoracic segment organ",
- "anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "absent material anatomical entity",
- "cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
"Abnormality of metabolism/homeostasis",
- "dentary",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
- "Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
+ "anatomical entity atresia",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
"tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
+ "thoracic cavity element",
+ "genitourinary system",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
+ "Delayed myelination",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
+ "cellular process",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
"skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
- "absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
+ "upper urinary tract",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
"absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
- "craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
- "body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
"bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
"subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
- "Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
"dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
"negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
"Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
- "occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
- "absent manual digit",
- "external nose phenotype",
- "Abnormal digit morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
"negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
"autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
"anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
"aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
- "camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
- "trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
- "aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
- "fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
- "Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
- "increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
"manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
- "neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
- "penis",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
"absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
- "shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
- "Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
"absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
"regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
+ "neurogenesis",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
+ "system process",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
+ "Abnormal tracheal morphology",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
"cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
"closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
- "immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
- "viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
"Abnormal nervous system morphology",
- "root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
- "external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
- "cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "respiratory airway",
+ "membrane bone",
+ "pectoral appendage",
+ "trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
+ "bone of free limb or fin phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "zeugopod",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
"increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
+ "anatomical conduit",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
"delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
"anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
- "flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
- "neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
- "Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
+ "forelimb phenotype",
"Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
- "tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
- "absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "closing of the anatomical structure",
+ "multi-limb segment region",
+ "multicellular anatomical structure atresia",
"external male genitalia hypoplasia",
- "blood cell",
- "absent endochondral bone",
- "erythrocyte",
- "system development",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- ],
- },
- {
- "id": "MONDO:0010953",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group E",
- "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111084",
- "GARD:15324",
- "MEDGEN:463628",
- "NCIT:C125709",
- "OMIM:600901",
- "UMLS:C3160739",
- ],
- "synonym": [
- "FANCE",
- "FANCE Fanconi anaemia",
- "FANCE Fanconi anemia",
- "Fanconi Anemia, complementation group type E",
- "Fanconi anaemia caused by mutation in FANCE",
- "Fanconi anaemia complementation group type E",
- "Fanconi anemia caused by mutation in FANCE",
- "Fanconi anemia complementation group E",
- "Fanconi anemia complementation group type E",
- "Fanconi anemia, complementation group E",
- "face",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000104",
- "HP:0001875",
- "HP:0001017",
- "HP:0001876",
- "HP:0000028",
- "HP:0003974",
- "HP:0001873",
- "HP:0009778",
- "HP:0001896",
- "HP:0009777",
- "HP:0000568",
- "HP:0001518",
- "HP:0001263",
- "HP:0003221",
- "HP:0000252",
- "HP:0001249",
- "HP:0009943",
- "HP:0000978",
- "HP:0001627",
- "HP:0000953",
- "HP:0000957",
- "HP:0001903",
- "HP:0000815",
- "HP:0001909",
- "HP:0000081",
- "HP:0000086",
- "HP:0004322",
- "HP:0000486",
- "HP:0000365",
- "HP:0003214",
- "HP:0003213",
- "HP:0000085",
- ],
- "has_phenotype_label": [
- "Renal agenesis",
- "Neutropenia",
- "Anemic pallor",
- "Pancytopenia",
- "Cryptorchidism",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
"Absent radius",
- "Thrombocytopenia",
- "Short thumb",
- "Reticulocytopenia",
- "Absent thumb",
- "Microphthalmia",
- "Small for gestational age",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
- "Complete duplication of thumb phalanx",
- "Bruising susceptibility",
- "Abnormal heart morphology",
- "Hyperpigmentation of the skin",
- "Cafe-au-lait spot",
- "Anemia",
- "Hypergonadotropic hypogonadism",
- "Leukemia",
- "Duplicated collecting system",
- "Ectopic kidney",
- "Short stature",
- "Strabismus",
- "Hearing impairment",
- "Prolonged G2 phase of cell cycle",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "Horseshoe kidney",
- ],
- "has_phenotype_count": 32,
- "has_phenotype_closure": [
- "UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
- "HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
- "HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
- "UPHENO:0080662",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004827",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
- "HP:0002597",
- "UPHENO:0004507",
- "UPHENO:0003086",
- "MPATH:603",
- "UPHENO:0002576",
- "HP:0004377",
- "UBERON:0000948",
- "MPATH:119",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "GO:0050877",
- "HP:0001249",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0053610",
- "GO:0048523",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
- "UPHENO:0050778",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002433",
- "HP:0009142",
- "HP:0012758",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "UPHENO:0002267",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0008604",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0005025",
- "UBERON:0015024",
- "UPHENO:0053559",
- "UBERON:0011138",
- "CL:0000738",
- "UPHENO:0002685",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "HP:0000028",
- "UPHENO:0077399",
- "UPHENO:0053572",
- "HP:0011873",
- "UPHENO:0003056",
- "UPHENO:0002940",
- "HP:0001873",
- "UBERON:0000079",
- "CL:0000457",
- "HP:0000811",
- "UBERON:0011584",
- "UPHENO:0084448",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0025661",
- "UPHENO:0088170",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0002193",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UBERON:0005451",
- "UBERON:0004053",
- "UPHENO:0025545",
- "UPHENO:0046750",
- "UPHENO:0053644",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "HP:0011314",
- "HP:0004323",
- "HP:0001017",
- "HP:0032251",
- "HP:0011893",
- "UPHENO:0086633",
- "HP:0001911",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "UBERON:0001444",
- "UBERON:0005177",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0010000",
- "UPHENO:0077391",
- "HP:0001874",
- "UPHENO:0086176",
- "UPHENO:0009382",
- "HP:0001875",
- "UBERON:0000015",
- "CL:0000094",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0001872",
- "HP:0002817",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0025176",
- "UBERON:0002204",
- "HP:0000077",
- "UBERON:0001008",
- "UPHENO:0027017",
- "UBERON:0000465",
- "HP:0009115",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "HP:0000815",
- "UPHENO:0063794",
- "GO:0043170",
- "CL:0000219",
- "CL:0000988",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UBERON:0002097",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0009344",
- "UPHENO:0008593",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UBERON:0012475",
- "HP:0020047",
- "UPHENO:0009356",
- "UPHENO:0002642",
- "HP:0100887",
- "CL:0002242",
- "UBERON:0005173",
- "UBERON:0004381",
- "GO:0031049",
- "HP:0009822",
- "UPHENO:0077418",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "UPHENO:0026504",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UPHENO:0002536",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0025811",
- "UPHENO:0025211",
- "GO:0040007",
- "UPHENO:0077348",
- "BFO:0000001",
- "CL:0000329",
- "HP:0000001",
- "UPHENO:0012308",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0007272",
- "UPHENO:0053647",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "CL:0000233",
- "UPHENO:0002751",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0027014",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0086700",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "CL:0000232",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0002403",
- "UBERON:0003135",
- "UBERON:0002390",
- "UPHENO:0002526",
- "UPHENO:0011498",
- "HP:0001627",
- "UBERON:0002371",
- "UBERON:0001474",
- "UPHENO:0002803",
- "GO:0050954",
- "UPHENO:0002816",
- "UBERON:0007100",
- "UBERON:0000468",
- "UBERON:0001434",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0008827",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "BFO:0000040",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "UPHENO:0026507",
- "UBERON:0002113",
- "UBERON:0010740",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:5102544",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "HP:0009823",
- "HP:0001896",
- "HP:0000980",
- "UPHENO:0026309",
- "HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "HP:0001871",
- "UPHENO:0011572",
- "CL:0000255",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0008545",
- "UPHENO:0003094",
- "UPHENO:0025546",
- "UPHENO:0025187",
- "HP:0001155",
- "UPHENO:0011533",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "HP:0012210",
- "UPHENO:0002896",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:5002389",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UBERON:0000467",
- "UPHENO:0008825",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0001001",
- "UPHENO:0076703",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0026980",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "HP:0003953",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
- "UBERON:0013701",
- "UBERON:0011216",
- "UBERON:0000479",
- "UPHENO:0026308",
- "UBERON:0001423",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0026146",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0087427",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "UPHENO:0009011",
- "UBERON:0011143",
- "UBERON:0003101",
- "UPHENO:0026600",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "UPHENO:0002595",
- "UBERON:0010707",
- "UPHENO:0004064",
- "UBERON:0000062",
- "HP:0000035",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0002523",
- "UPHENO:0088162",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0053580",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0010935",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0025354",
- "HP:0011844",
- "UBERON:0015204",
- "UBERON:0000061",
- "CL:0000225",
- "UPHENO:0008816",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0086016",
- "UPHENO:0086019",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0000026",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0002389",
- "HP:0012243",
- "UPHENO:0041821",
- "HP:0000032",
- "UPHENO:0003055",
- "UPHENO:0026239",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0003213",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "HP:0001876",
- "UPHENO:0026808",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "UPHENO:0026486",
- "UPHENO:0053566",
- "UBERON:0010538",
- "UBERON:0002075",
- "UPHENO:0002738",
- "PATO:0000001",
- "UPHENO:0081511",
- "UPHENO:0076805",
- "CL:0000775",
- "UPHENO:0025883",
- "UPHENO:0025808",
- "UPHENO:0079876",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "HP:0002011",
- "UPHENO:0011492",
- "HP:0000104",
- "UPHENO:0026095",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0010708",
- "UPHENO:0041075",
- "GO:0006139",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UBERON:0010741",
- "UPHENO:0025508",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UBERON:0003466",
- "UPHENO:0025509",
- "UPHENO:0009366",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025135",
- "UBERON:0003221",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0009341",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0000978",
- "UPHENO:0008865",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UBERON:0015061",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
- "UBERON:0004765",
- "RO:0002577",
- "UBERON:0010712",
- "HP:0001263",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
- "UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
- "UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
- "UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
- "GO:0003008",
- "HP:0011875",
- "UPHENO:0025855",
- "HP:0025461",
- "HP:0002818",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "UBERON:0019231",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "CL:0000763",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002417",
- "UPHENO:0009391",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668",
- ],
- "has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
- "Abnormality of the ear",
- "decreased sensory perception",
- "cell cycle",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
- "Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
- "phalanx of manus",
- "phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
- "number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
- "neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
- "hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1",
- ],
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
- ],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0019391",
- "category": "biolink:Disease",
- "name": "Fanconi anemia",
- "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:13636",
- "GARD:6425",
- "ICD9:284.09",
- "MEDGEN:41967",
- "MESH:D005199",
- "MedDRA:10055206",
- "NANDO:1200303",
- "NANDO:1200891",
- "NANDO:2200652",
- "NCIT:C62505",
- "NORD:1132",
- "OMIMPS:227650",
- "Orphanet:84",
- "SCTID:30575002",
- "UMLS:C0015625",
- ],
- "synonym": [
- "Fanconi anemia",
- "Fanconi pancytopenia",
- "Fanconi panmyelopathy",
- "Fanconi's anaemia",
- "Fanconi's anemia",
- "Panmyelopathy, Fanconi",
- "pancytopenia, congenital",
- "primary erythroid hypoplasia",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0100867",
- "HP:0100760",
- "HP:0100587",
- "HP:0100542",
- "HP:0100026",
- "HP:0040071",
- "HP:0012639",
- "HP:0012041",
- "HP:0010469",
- "HP:0010293",
- "HP:0008678",
- "HP:0000377",
- "HP:0008053",
- "HP:0007565",
- "HP:0006824",
- "HP:0006265",
- "HP:0006101",
- "HP:0005344",
- "HP:0004349",
- "HP:0004209",
- "HP:0003022",
- "HP:0002863",
- "HP:0002827",
- "HP:0002823",
- "HP:0002575",
- "HP:0002414",
- "HP:0002251",
- "HP:0002245",
- "HP:0002119",
- "HP:0002023",
- "HP:0002007",
- "HP:0001824",
- "HP:0001770",
- "HP:0001763",
- "HP:0001760",
- "HP:0001679",
- "HP:0001646",
- "HP:0001643",
- "HP:0001639",
- "HP:0001636",
- "HP:0001631",
- "HP:0001562",
- "HP:0001537",
- "HP:0001511",
- "HP:0001510",
- "HP:0001392",
- "HP:0001347",
- "HP:0001199",
- "HP:0000864",
- "HP:0000813",
- "HP:0000639",
- "HP:0000582",
- "HP:0000568",
- "HP:0000520",
- "HP:0000518",
- "HP:0000508",
- "HP:0000505",
- "HP:0000504",
- "HP:0000492",
- "HP:0000486",
- "HP:0000483",
- "HP:0000478",
- "HP:0000453",
- "HP:0000365",
- "HP:0000364",
- "HP:0000347",
- "HP:0000340",
- "HP:0000324",
- "HP:0000316",
- "HP:0000286",
- "HP:0000268",
- "HP:0000238",
- "HP:0000218",
- "HP:0000175",
- "HP:0000135",
- "HP:0000130",
- "HP:0000083",
- "HP:0000072",
- "HP:0000047",
- "HP:0000035",
- "HP:0000028",
- "HP:0000027",
- "HP:0000010",
- "HP:0012745",
- "HP:0012210",
- "HP:0007874",
- "HP:0002664",
- "HP:0002650",
- "HP:0001671",
- "HP:0001263",
- "HP:0001249",
- "HP:0000252",
- "HP:0000079",
- "HP:0007400",
- "HP:0006501",
- "HP:0005522",
- "HP:0004322",
- "HP:0003220",
- "HP:0002817",
- "HP:0001903",
- "HP:0001882",
- "HP:0001873",
- "HP:0001871",
- "HP:0001172",
- "HP:0001053",
- "HP:0001000",
- ],
- "has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
- "Abnormal preputium morphology",
- "Abnormal localization of kidney",
- "Arteriovenous malformation",
- "Abnormal morphology of ulna",
- "Abnormal nervous system morphology",
- "Decreased fertility in males",
- "Absent testis",
- "Aplasia/Hypoplasia of the uvula",
- "Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
- "Aplasia/Hypoplasia of the iris",
- "Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
- "Aplasia/Hypoplasia of fingers",
- "Finger syndactyly",
- "Abnormal carotid artery morphology",
- "Reduced bone mineral density",
- "Clinodactyly of the 5th finger",
- "Hypoplasia of the ulna",
- "Myelodysplasia",
- "Hip dislocation",
- "Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
- "Aganglionic megacolon",
- "Meckel diverticulum",
- "Ventriculomegaly",
- "Anal atresia",
- "Frontal bossing",
- "Weight loss",
- "Toe syndactyly",
- "Pes planus",
- "Abnormal foot morphology",
- "Abnormal aortic morphology",
- "Abnormal aortic valve morphology",
- "Patent ductus arteriosus",
- "Hypertrophic cardiomyopathy",
- "Tetralogy of Fallot",
- "Atrial septal defect",
- "Oligohydramnios",
- "Umbilical hernia",
- "Intrauterine growth retardation",
- "Growth delay",
- "Abnormality of the liver",
- "Hyperreflexia",
- "Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
- "Bicornuate uterus",
- "Nystagmus",
- "Upslanted palpebral fissure",
- "Microphthalmia",
- "Proptosis",
- "Cataract",
- "Ptosis",
- "Visual impairment",
- "Abnormality of vision",
- "Abnormal eyelid morphology",
- "Strabismus",
- "Astigmatism",
- "Abnormality of the eye",
- "Choanal atresia",
- "Hearing impairment",
- "Hearing abnormality",
- "Micrognathia",
- "Sloping forehead",
- "Facial asymmetry",
- "Hypertelorism",
- "Epicanthus",
- "Dolichocephaly",
- "Hydrocephalus",
- "High palate",
- "Cleft palate",
- "Hypogonadism",
- "Abnormality of the uterus",
- "Renal insufficiency",
- "Hydroureter",
- "Hypospadias",
- "Abnormal testis morphology",
- "Cryptorchidism",
- "Azoospermia",
- "Recurrent urinary tract infections",
- "Short palpebral fissure",
- "Abnormal renal morphology",
- "Almond-shaped palpebral fissure",
- "Neoplasm",
- "Scoliosis",
- "Abnormal cardiac septum morphology",
- "Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
- "Abnormality of the urinary system",
- "Irregular hyperpigmentation",
- "Aplasia/Hypoplasia of the radius",
- "Pyridoxine-responsive sideroblastic anemia",
- "Short stature",
- "Abnormality of chromosome stability",
- "Abnormality of the upper limb",
- "Anemia",
- "Leukopenia",
- "Thrombocytopenia",
- "Abnormality of blood and blood-forming tissues",
- "Abnormal thumb morphology",
- "Hypopigmented skin patches",
- "Abnormality of skin pigmentation",
- ],
- "has_phenotype_count": 106,
- "has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
- "UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
- "HP:0001877",
- "HP:0001903",
- "GO:0030218",
- "CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
- "HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
- "UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
- "UPHENO:0053571",
- "UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
- "UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
- "HP:0000072",
- "UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
- "HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
- "UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
- "UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
- "HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
- "UPHENO:0080087",
- "UPHENO:0005437",
- "UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
- "UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
- "UBERON:0005726",
- "UPHENO:0005071",
- "HP:0005105",
- "UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
- "UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
- "UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
- "HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
- "UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
- "UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
- "UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
- "UPHENO:0002977",
- "UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
- "UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
- "UPHENO:0075995",
- "UBERON:0005897",
- "UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
- "UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
- "HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
- "UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
- "UPHENO:0049622",
- "NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
- "NBO:0000403",
- "UPHENO:0049699",
- "UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
- "UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
- "UPHENO:0052178",
- "UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
- "UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
- "HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
- "UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
- "UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
- "UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
- "UBERON:0002081",
- "UPHENO:0075208",
- "HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
- "UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
- "UPHENO:0066913",
- "UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
- "UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
- "UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
- "UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
- "UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
- "UPHENO:0033598",
- "UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
- "UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
- "UPHENO:0086866",
- "UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
- "UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
- "UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
- "UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
- "UPHENO:0041565",
- "UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
- "UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
- "HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
- "UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
- "HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
- "UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
- "UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
- "UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
- "UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
- "UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
- "UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
- "UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
- "HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
- "UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
- "UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
- "UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
- "UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
- "UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
- "UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
- "HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
- "UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
- "UBERON:0002114",
- "UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
- "UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
- "BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
- "UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
- "UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
- "UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
- "HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
- "UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
- "HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
- "HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
- "UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
- "HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
- "UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
- "UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
- "UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
- "UPHENO:0005058",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
- "UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
- "UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
- "HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
- "UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
- "UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
- "HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
- "UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
- "UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
- "HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
- "UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
- "RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914",
- ],
- "has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
- "Hypopigmented skin patches",
- "serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
- "Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
- "Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
- "Abnormal morphology of the radius",
- "radius endochondral element",
- "radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
- "zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
- "asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
- "naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
- "Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
- "bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
- "manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
- "manual digit bone",
- "manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
- "phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
- "Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
- "herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
- "organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
- "late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
- "Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
- "mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
- "great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
- "anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
- "anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
- ],
- },
- {
- "id": "MONDO:0013248",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
- "synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000126",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0009623",
- "HP:0009777",
- "HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
- "HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023",
- ],
- "has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Proximal placement of thumb",
- "Absent thumb",
- "Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
- "Short stature",
- "Small thenar eminence",
- "Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia",
- ],
- "has_phenotype_count": 15,
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
- "UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0046483",
- "GO:0031324",
- "UPHENO:0004900",
- "UPHENO:0008548",
- "HP:0009115",
- "UBERON:0002204",
- "UBERON:0000465",
- "UPHENO:0027017",
- "HP:0011314",
- "UPHENO:0005214",
- "HP:0003774",
- "UBERON:0001008",
- "HP:0000077",
- "UBERON:0001245",
- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
- "UBERON:0019231",
- "UPHENO:0046538",
- "HP:0000002",
- "HP:0009826",
- "UPHENO:0002593",
- "UPHENO:0086956",
- "GO:0008150",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005409",
- "UBERON:0003103",
- "HP:0009821",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0050065",
- "HP:0010946",
- "UPHENO:0075944",
- "HP:0011277",
- "UBERON:0008962",
- "HP:0009484",
- "UPHENO:0009209",
- "UBERON:0015001",
- "UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0074311",
- "UPHENO:0003812",
- "UBERON:0002386",
- "HP:0012732",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "HP:0001627",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0003084",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0069163",
- "UBERON:0004381",
- "UPHENO:0087346",
- "UBERON:0005173",
- "UPHENO:0003095",
- "UBERON:0000991",
- "UPHENO:0002648",
- "UBERON:0006717",
- "UPHENO:0068848",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UBERON:0002495",
- "UPHENO:0050126",
- "UBERON:0008785",
- "UPHENO:0076718",
- "UBERON:0011584",
- "UBERON:0011582",
- "UPHENO:0002600",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0010000",
- "HP:0010945",
- "UPHENO:0087349",
- "UPHENO:0046455",
- "UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002659",
- "HP:0040068",
- "HP:0009824",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0076727",
- "UBERON:0011143",
- "UPHENO:0069064",
- "GO:0005623",
- "UPHENO:0078606",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "UPHENO:0046505",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UBERON:0000064",
- "UPHENO:0002576",
- "HP:0000028",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UBERON:0001224",
- "UPHENO:0002632",
- "UBERON:0000489",
- "HP:0040064",
- "UPHENO:0050007",
- "HP:0010944",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UPHENO:0068971",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0002852",
- "UPHENO:0002525",
- "UBERON:0001062",
- "HP:0000126",
- "UBERON:0002101",
- "HP:0001197",
- "HP:0000001",
- "UPHENO:0002536",
- "GO:0009890",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UBERON:0000323",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0084132",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UPHENO:0002650",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UBERON:0002091",
- "UBERON:0000026",
- "UBERON:0004120",
- "RO:0002577",
- "UBERON:0004765",
- "HP:0034058",
- "UBERON:0000075",
- "UPHENO:0001478",
- "BFO:0000004",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0046540",
- "UBERON:0001474",
- "UPHENO:0002803",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "UPHENO:0075949",
- "UPHENO:0068838",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "HP:0005922",
- "UPHENO:0079872",
- "UBERON:0002428",
- "UBERON:0002100",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0084124",
- "HP:0000924",
- "UPHENO:0003415",
- "UBERON:5001463",
- "UBERON:0000916",
- "UPHENO:0069125",
- "UPHENO:0063639",
- "UBERON:0002113",
- "UBERON:0015021",
- "UBERON:0000467",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0011249",
- "UBERON:0009569",
- "UPHENO:0012312",
- "HP:0011017",
- "BFO:0000015",
- "UBERON:5002389",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0001134",
- "UPHENO:0049620",
- "HP:0006496",
- "GO:0060255",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0002909",
- "MPATH:55",
- "HP:0034242",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "UPHENO:0075893",
- "UPHENO:0002816",
- "UPHENO:0002754",
- "UPHENO:0002246",
- "HP:0003026",
- "UBERON:0000922",
- "UBERON:0004481",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0001147",
- "HP:0000032",
- "UPHENO:3000001",
- "GO:0010558",
- "UPHENO:0068839",
- "UBERON:0001009",
- "UBERON:0007100",
- "UBERON:0000468",
- "UPHENO:0068912",
- "UBERON:0015061",
- "UBERON:0011676",
- "HP:0005773",
- "UPHENO:0002733",
- "UBERON:0013701",
- "HP:0002817",
- "HP:0003220",
- "UPHENO:0087427",
- "HP:0011927",
- "UPHENO:0076810",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "HP:0010935",
- "UPHENO:0046445",
- "UPHENO:0084829",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
- "UPHENO:0081581",
- "UPHENO:0069327",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "UPHENO:0003045",
- "HP:0034057",
- "UPHENO:0086682",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0002976",
- "UBERON:0004122",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "UBERON:0004921",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0074227",
- "UPHENO:0001001",
- "UPHENO:0002530",
- "HP:0000107",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "HP:0011425",
- "UBERON:0008837",
- "UPHENO:0069047",
- "UPHENO:0001072",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "BFO:0000040",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0000062",
- "HP:0000035",
- "UBERON:0005177",
- "UBERON:0004176",
- "UBERON:0004111",
- "UPHENO:0046479",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002411",
- "UBERON:0036295",
- "HP:0004322",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "HP:0011805",
- "UPHENO:0086633",
- "UPHENO:0046392",
- "HP:0001939",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0002945",
- "UBERON:0013702",
- "UPHENO:0069046",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0002417",
- "GO:0048523",
- "UPHENO:0046403",
- "UBERON:0012475",
- "UBERON:0005156",
- "HP:0011842",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "MPATH:1000",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "GO:0050794",
- "UBERON:0010708",
- "UPHENO:0069292",
- "UPHENO:0076783",
- "UPHENO:0002377",
- "UBERON:0010741",
- "UBERON:0001434",
- "UPHENO:0003227",
- "UPHENO:0002559",
- "HP:0002984",
- "HP:0033127",
- "UBERON:0004710",
- "HP:0040012",
- "UBERON:0010740",
- "GO:0031323",
- "UPHENO:0081424",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "BFO:0000001",
- "GO:0040007",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0000061",
- "MPATH:62",
- "UBERON:0003607",
- "UPHENO:0063596",
- "UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069194",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UBERON:5002544",
- "UPHENO:0084841",
- "UPHENO:0011572",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "UPHENO:0012440",
- "HP:0002973",
- "UPHENO:0068932",
- "UBERON:0000160",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0084448",
- "HP:0009778",
- "UPHENO:0053647",
- "UPHENO:0002940",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
- "UPHENO:0003056",
- "UPHENO:0050778",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UBERON:0000473",
- "UPHENO:0053572",
- "UPHENO:0053571",
- "UBERON:0003135",
- "UPHENO:0076710",
- "HP:0001510",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UBERON:0000079",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004708",
- "UPHENO:0026506",
- "HP:0003241",
- "UPHENO:0002685",
- "UPHENO:0053559",
- "UPHENO:0049743",
- "UPHENO:0005025",
- "HP:0000811",
- "GO:0031049",
- "UPHENO:0049775",
- "UPHENO:0000541",
- "HP:0010461",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UBERON:0003101",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0002523",
- "UPHENO:0000543",
- "HP:0012243",
- "UPHENO:0003055",
- "UPHENO:0086700",
- "UBERON:0003466",
- "HP:0004097",
- "UBERON:0006048",
- "UBERON:0012139",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "UPHENO:0004476",
- "UPHENO:0084761",
- "UBERON:0002544",
- "HP:0040072",
- "UPHENO:0046741",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0002714",
- "HP:0001155",
- "UPHENO:0003082",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UPHENO:0075763",
- "HP:0009381",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0002422",
- "UBERON:0004480",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UBERON:0000948",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076776",
- "HP:0012718",
- "UPHENO:0086644",
- "UBERON:0010758",
- "GO:0010468",
- "UBERON:0002389",
- "HP:0011297",
- "HP:0009623",
- "UBERON:0012140",
- "UPHENO:0080369",
- "GO:0042592",
- "UPHENO:0084834",
- "UPHENO:0002595",
- "HP:0009603",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0004535",
- "UBERON:0006058",
- "UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "GO:0009889",
- "UPHENO:0001044",
- "UBERON:0005090",
- "UPHENO:0008668",
- "HP:0000079",
- "UPHENO:0081451",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0026640",
- "UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0049868",
- "UBERON:0008878",
- "UPHENO:0026643",
- "UBERON:0015410",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0000915",
- "UPHENO:0004831",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UBERON:0015228",
- "UPHENO:0004469",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0076779",
- "UBERON:0005181",
- "UPHENO:0004827",
- "UPHENO:0004507",
- "UPHENO:0002786",
- "HP:0006265",
- "UBERON:0005178",
- "MPATH:56",
- "UPHENO:0003086",
- "MPATH:603",
- "MPATH:0",
- "GO:0050789",
- "UPHENO:0074310",
- "CL:0000000",
- "UPHENO:9002003",
- "GO:0008152",
- "GO:0065007",
- "UBERON:0034923",
- "UPHENO:0086172",
- "GO:0031327",
- "UPHENO:0050025",
- "GO:0031052",
- "UPHENO:0050435",
- "UPHENO:0050063",
- "GO:0010605",
- "GO:0010556",
- "UPHENO:0049642",
- "GO:0031326",
- "BFO:0000003",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "UPHENO:0002861",
- "UPHENO:0003022",
- "UPHENO:0050040",
- "UPHENO:0069254",
- "UPHENO:0002597",
- "UPHENO:0049757",
- "UPHENO:0080351",
- "UBERON:0017716",
- "GO:0010629",
- "HP:0001227",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0002649",
- "UPHENO:0002651",
- "UBERON:0001630",
- "UBERON:0004489",
- ],
- "has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
- "Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
- "negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
- "size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
- "bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
- "regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
- "thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
- "regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
- "delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
- "Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus",
- ],
- },
- {
- "id": "MONDO:0013499",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
- "provided_by": "phenio_nodes",
- "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
- "synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia",
- ],
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0001876",
- "HP:0000347",
- "HP:0002984",
- "HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
- "HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
- "HP:0000365",
- "HP:0000252",
- "HP:0001045",
- ],
- "has_phenotype_label": [
- "Pancytopenia",
- "Micrognathia",
- "Hypoplasia of the radius",
- "Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
- "Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
- "Microcephaly",
- "Vitiligo",
- ],
- "has_phenotype_count": 20,
- "has_phenotype_closure": [
- "NCBITaxon:6072",
- "NCBITaxon:2759",
- "HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0076805",
- "HP:0002011",
- "UPHENO:0003001",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "UPHENO:0076791",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UPHENO:0050106",
- "UPHENO:0005437",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0002352",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002308",
- "UPHENO:0005433",
- "UPHENO:0002240",
- "UBERON:0000955",
- "UPHENO:0052165",
- "UPHENO:0002903",
- "UBERON:0002105",
- "HP:0031704",
- "UPHENO:0002211",
- "GO:0007605",
- "UPHENO:0002267",
- "UPHENO:0080351",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "HP:0002664",
- "HP:0008069",
- "HP:0001045",
- "HP:0011793",
- "HP:0002860",
- "GO:0060255",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050007",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
- "GO:0010556",
- "GO:0009890",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "GO:0031049",
- "GO:0050789",
- "HP:0000581",
- "UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "UPHENO:0075997",
- "UPHENO:0046487",
- "UBERON:0000047",
- "UPHENO:0005319",
- "UPHENO:0075198",
- "HP:0002060",
- "HP:0030669",
- "UPHENO:0069119",
- "HP:0012745",
- "UPHENO:0046753",
- "UBERON:0000970",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001711",
- "UBERON:0001819",
- "UPHENO:0004757",
- "UPHENO:0068914",
- "UPHENO:0046755",
- "UPHENO:0002812",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "GO:0008152",
- "UPHENO:0002643",
- "UPHENO:0076761",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "HP:0012130",
- "UPHENO:0088162",
- "GO:0031327",
- "UBERON:0002199",
- "HP:0001034",
- "HP:0007400",
- "HP:0000957",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0003811",
- "UPHENO:0074584",
- "GO:0065007",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "GO:0010605",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0040012",
- "UBERON:0002416",
- "UPHENO:0080377",
- "UPHENO:0002727",
- "UBERON:0001032",
- "UPHENO:0084715",
- "GO:0009889",
- "HP:0000366",
- "UBERON:0034929",
- "UPHENO:0002837",
- "UBERON:0000073",
- "UPHENO:0002722",
- "UPHENO:0050778",
- "UPHENO:0002907",
- "UPHENO:0002005",
- "UPHENO:0001025",
- "UPHENO:0050040",
- "UPHENO:0001217",
- "UBERON:0002268",
- "UPHENO:0082875",
- "UBERON:0012128",
- "UPHENO:0087950",
- "UPHENO:0005518",
- "UPHENO:0001279",
- "UBERON:0007827",
- "UPHENO:0087430",
- "UPHENO:0002962",
- "UBERON:0000466",
- "HP:0000436",
- "UPHENO:0002715",
- "UPHENO:0001134",
- "UPHENO:0001912",
- "UBERON:0006983",
- "UPHENO:0001360",
- "UPHENO:0084727",
- "UPHENO:0026643",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0027017",
- "UPHENO:0025585",
- "UPHENO:0009146",
- "UPHENO:0080325",
- "UPHENO:0026146",
- "UPHENO:0026181",
- "UPHENO:0009020",
- "UPHENO:0009209",
- "UPHENO:0008668",
- "UPHENO:0025587",
- "UPHENO:0009163",
- "UPHENO:0025507",
- "UPHENO:0026010",
- "UPHENO:0025509",
- "UPHENO:0011825",
- "UPHENO:0009382",
- "HP:0100547",
- "UPHENO:0053643",
- "UPHENO:0081451",
- "HP:0000079",
- "UBERON:0003103",
- "UBERON:0010708",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0053588",
- "UPHENO:0002782",
- "UPHENO:0002945",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0046471",
- "BFO:0000141",
- "UBERON:0003129",
- "HP:0025033",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0002942",
- "UPHENO:0002731",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0088116",
- "UBERON:0007842",
- "HP:0033127",
- "UPHENO:0088168",
- "UPHENO:0002559",
- "UBERON:0004111",
- "UPHENO:0003082",
- "UBERON:0000025",
- "UPHENO:0069163",
- "HP:0009115",
- "UBERON:0002204",
- "UBERON:0011156",
- "UBERON:0000465",
- "UPHENO:0081566",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "GO:0010468",
- "UBERON:0010758",
- "UPHENO:0075944",
- "UBERON:0004381",
- "UBERON:0005173",
- "UPHENO:0004434",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0003004",
- "UPHENO:0081788",
- "HP:0031816",
- "UBERON:0001456",
- "UPHENO:0081091",
- "UPHENO:0002928",
- "HP:0009121",
- "UBERON:0002417",
- "UPHENO:0075220",
- "HP:0005105",
- "UBERON:0011676",
- "UPHENO:0001072",
- "UPHENO:0002868",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0002994",
- "UBERON:0003101",
- "HP:0034261",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UBERON:0011137",
- "UPHENO:0002668",
- "UPHENO:0046392",
- "UBERON:0010323",
- "UPHENO:3000000",
- "UPHENO:0069064",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0002523",
- "UPHENO:0000543",
- "UBERON:0000064",
- "UPHENO:0084448",
- "UPHENO:0002772",
- "HP:0006503",
- "UPHENO:0046396",
- "UPHENO:0002526",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0002750",
- "UBERON:0000165",
- "UPHENO:0084457",
- "CL:0000000",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0002650",
- "HP:0000234",
- "HP:0200007",
- "HP:0009118",
- "UPHENO:0002732",
- "GO:0050877",
- "UPHENO:0069194",
- "UBERON:0000033",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0005517",
- "UPHENO:0081141",
- "HP:0009826",
- "GO:0042592",
- "UPHENO:0001135",
- "UBERON:0011595",
- "UPHENO:0002940",
- "HP:0009116",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0005177",
- "UBERON:0001444",
- "UBERON:0001007",
- "UBERON:0010703",
- "UBERON:0011158",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0053559",
- "UBERON:0000467",
- "UPHENO:0084761",
- "CL:0000458",
- "UPHENO:0046707",
- "UPHENO:0003088",
- "HP:0025031",
- "UPHENO:0046552",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0009601",
- "UPHENO:3000004",
- "UPHENO:0079876",
- "UPHENO:0002550",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "CL:0000233",
- "PATO:0000001",
- "UBERON:0002193",
- "BFO:0000040",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0003135",
- "UPHENO:0069562",
- "UBERON:0004768",
- "HP:0001510",
- "UBERON:0007811",
- "UBERON:0012360",
- "UPHENO:0063794",
- "CL:0000219",
- "HP:0011873",
- "UPHENO:0053572",
- "HP:0009122",
- "HP:0020047",
- "UBERON:0002091",
- "UPHENO:0002761",
- "UBERON:0001708",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0003466",
- "UPHENO:0075878",
- "HP:0011821",
- "HP:0001872",
- "HP:0000492",
- "HP:0002817",
- "HP:0025354",
- "HP:0011844",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
+ "forelimb long bone",
+ "radius bone",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "pigmentation",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "segmental subdivision of nervous system phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "postcranial axial skeleton",
+ "musculoskeletal system",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
+ "Abnormal axial skeleton morphology",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
+ "aplasia or hypoplasia of anatomical entity",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
+ "aplasia or hypoplasia of skeleton",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "alimentary part of gastrointestinal system phenotype",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "subdivision of skeletal system phenotype",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
+ "subdivision of organism along appendicular axis",
+ "increased length of the anatomical line between pupils",
+ "Craniofacial cleft",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
+ "primary subdivision of cranial skeletal system",
+ "absent endochondral bone",
+ "limb long bone",
+ "dermal skeleton",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
+ "forelimb bone phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
+ "head",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "organ subunit phenotype",
+ "Abnormal brain morphology",
+ "autopod region",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
+ "renal system phenotype",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
+ "anatomical system phenotype",
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
+ "intramembranous bone",
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype",
+ ],
+ },
+ {
+ "id": "MONDO:0010953",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group E",
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:0111084",
+ "GARD:15324",
+ "MEDGEN:463628",
+ "NCIT:C125709",
+ "OMIM:600901",
+ "UMLS:C3160739",
+ ],
+ "synonym": [
+ "FACE",
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0000104",
+ "HP:0001875",
+ "HP:0001017",
"HP:0001876",
- "CL:0001035",
- "UPHENO:0002909",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UPHENO:0077391",
- "HP:0011297",
- "UBERON:0002113",
- "UPHENO:0005104",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0002389",
- "UPHENO:0086700",
- "CL:0000457",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UBERON:0011143",
- "UBERON:0001684",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0002529",
- "UPHENO:0080010",
- "HP:0008050",
- "UPHENO:0003093",
- "CL:0000232",
- "HP:0000119",
- "UPHENO:0075804",
- "UPHENO:0046528",
- "UBERON:0010000",
- "HP:0009821",
- "UPHENO:0086589",
- "UBERON:0002371",
- "UPHENO:0011498",
- "UBERON:0000061",
- "UPHENO:0002738",
- "CL:0002242",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0003113",
- "UBERON:0002090",
- "UPHENO:0001001",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0083646",
- "UPHENO:0063722",
- "UBERON:0007914",
- "CL:0000225",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0054970",
- "HP:0000414",
- "UBERON:0001440",
- "UBERON:0011216",
- "HP:0012639",
- "UPHENO:0002818",
- "UPHENO:0069327",
- "UPHENO:0088166",
- "UPHENO:0002870",
- "UPHENO:0002967",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0085302",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "CL:0000738",
- "UBERON:0011138",
- "UPHENO:0012308",
- "CL:0000988",
- "UBERON:0000075",
- "UPHENO:0049703",
- "BFO:0000004",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0050954",
- "UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0010313",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0077348",
- "GO:0040007",
- "BFO:0000001",
- "HP:0000252",
- "UBERON:0011159",
- "UPHENO:0012274",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UPHENO:0002746",
- "UPHENO:0004625",
- "UPHENO:0002948",
"HP:0000028",
- "UPHENO:0002988",
- "UPHENO:0077418",
+ "HP:0003974",
+ "HP:0001873",
+ "HP:0009778",
+ "HP:0001896",
+ "HP:0009777",
+ "HP:0000568",
+ "HP:0001518",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0000978",
+ "HP:0001627",
+ "HP:0000953",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0000815",
+ "HP:0001909",
+ "HP:0000081",
+ "HP:0000086",
+ "HP:0004322",
+ "HP:0000486",
"HP:0000365",
- "UBERON:0034923",
- "UPHENO:0086172",
- "UBERON:0000479",
- "UPHENO:0002833",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0000079",
- "UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0001015",
- "UPHENO:0085344",
- "UPHENO:0069684",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0001873",
- "UPHENO:0011572",
- "CL:0000255",
- "HP:0001871",
- "HP:0000271",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UBERON:0000383",
- "HP:0001939",
- "GO:0043473",
- "HP:0010987",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000019",
- "CL:0002092",
- "UBERON:0002514",
- "UBERON:0001434",
- "UPHENO:0002944",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085",
+ ],
+ "has_phenotype_label": [
+ "Renal agenesis",
+ "Neutropenia",
+ "Anemic pallor",
+ "Pancytopenia",
+ "Cryptorchidism",
+ "Absent radius",
+ "Thrombocytopenia",
+ "Short thumb",
+ "Reticulocytopenia",
+ "Absent thumb",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
+ "Abnormal heart morphology",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Hypergonadotropic hypogonadism",
+ "Leukemia",
+ "Duplicated collecting system",
+ "Ectopic kidney",
+ "Short stature",
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney",
+ ],
+ "has_phenotype_count": 32,
+ "has_phenotype_closure": [
+ "UPHENO:0041226",
+ "HP:0000085",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "HP:0000598",
"UPHENO:0052970",
+ "UPHENO:0002903",
+ "HP:0000364",
"UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0081581",
- "HP:0000924",
- "UBERON:0013701",
- "UPHENO:0053644",
- "UPHENO:0002828",
- "UBERON:0004921",
- "HP:0012145",
- "HP:0002692",
- "UPHENO:0080126",
- "UPHENO:0002754",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0000062",
- "HP:0000035",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "HP:0000277",
- "UPHENO:0076703",
- "UBERON:0013765",
- "UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0005008",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002548",
- "HP:0000086",
- "HP:0000153",
- "HP:0006501",
- "UPHENO:0046479",
- "UPHENO:0080087",
- "UPHENO:0002926",
- "UPHENO:0080165",
- "UBERON:0003462",
- "UBERON:0003278",
- "UBERON:0003457",
- "HP:0002977",
- "UBERON:0008907",
- "UPHENO:0002553",
- "UPHENO:0068941",
- "UPHENO:0049874",
- "UBERON:0010741",
- "UBERON:0002471",
- "UPHENO:0087924",
- "UPHENO:0003005",
+ "HP:0031704",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002211",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
"HP:0100542",
+ "UPHENO:0053601",
"UPHENO:0053612",
- "UBERON:0004756",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
- "UPHENO:0069047",
- "HP:0005922",
- "UPHENO:0079872",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0046445",
- "UBERON:0013702",
- "UPHENO:0069046",
- "HP:0009824",
- "UBERON:0004288",
- "HP:0000929",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0004523",
- "UPHENO:0046455",
- "UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0069030",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UBERON:0001710",
- "UBERON:5002544",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
+ "HP:0000086",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
+ "UPHENO:0002386",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "HP:0001903",
+ "HP:0012733",
+ "HP:0011355",
+ "UPHENO:0074575",
"UPHENO:0054957",
- "UBERON:0002495",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0076739",
- "UPHENO:0002733",
- "HP:0005773",
- "UPHENO:0046484",
- "UPHENO:0087349",
- "UBERON:0003460",
- "UPHENO:0002719",
- "UBERON:0007272",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0015021",
- "HP:0003026",
- "UPHENO:0002659",
- "HP:0040068",
- "UPHENO:0069292",
- "UBERON:0004765",
- "UPHENO:0005106",
- "RO:0002577",
- "UBERON:0011249",
- "UBERON:0012475",
- "UBERON:0005156",
- "UBERON:0010712",
- "UPHENO:0081314",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0046465",
- "UBERON:0003606",
- "HP:0001574",
- "UPHENO:0049587",
- "UBERON:0015001",
- "HP:0002715",
- "UPHENO:0002969",
- "HP:0001172",
- "UBERON:0008962",
- "UPHENO:0046472",
- "UPHENO:0046540",
- "UPHENO:0068838",
- "UPHENO:0002785",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "HP:0000953",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
+ "UPHENO:0004827",
+ "UPHENO:0002634",
+ "UBERON:0000948",
+ "UPHENO:0003086",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "CL:0000558",
"HP:0000152",
- "UPHENO:0003514",
- "UBERON:0000991",
- "UPHENO:0003095",
- "UPHENO:0076718",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "UBERON:0011137",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "UBERON:0000479",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "UPHENO:0077373",
+ "UBERON:0005944",
"UBERON:0012141",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0002861",
- "UBERON:0015061",
- "UPHENO:0068912",
- "UPHENO:0046538",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0046403",
- "UPHENO:0075890",
- "UPHENO:0068921",
- "UPHENO:0046405",
- "GO:0008150",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0076754",
- "UPHENO:0002830",
+ "UBERON:0001890",
"UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "HP:0045060",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UBERON:0001008",
- "HP:0000077",
- "HP:0032251",
- "HP:0011314",
- "HP:0006496",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "GO:0003008",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0076800",
- "UPHENO:0003227",
- "HP:0002984",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0003607",
- "UBERON:0001423",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0010364",
- "UBERON:0000916",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0012440",
- "HP:0002973",
- "UBERON:0004456",
- "UPHENO:0068932",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0053647",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "GO:0010468",
"UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0003056",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0003085",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "HP:0010938",
- "UBERON:0015212",
- "HP:0000078",
- "UPHENO:0002685",
- "UPHENO:0005025",
- "HP:0000811",
+ "GO:0050789",
+ "HP:0001876",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "BFO:0000015",
+ "UPHENO:0004523",
+ "GO:0031326",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
"UPHENO:0049775",
- "UPHENO:0000541",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "HP:0010461",
- "UPHENO:0002642",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
+ "UPHENO:0002267",
+ "UPHENO:0003001",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
"HP:0001507",
- "HP:0012243",
- "UPHENO:0002971",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0041821",
- "HP:0000032",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0012733",
- "UBERON:0002544",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
+ "UPHENO:3000007",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
"UPHENO:0046741",
- "UBERON:0012140",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
"UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
"HP:0001155",
- "CL:0000763",
- "UPHENO:0003069",
- "HP:0000347",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
"HP:0011927",
- "UPHENO:0087427",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0081786",
- "UPHENO:0086595",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0050620",
"UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
+ "UBERON:0012354",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
"UPHENO:0080114",
- "UBERON:0001460",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
"UBERON:0019221",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0076803",
- "HP:0030791",
- "UPHENO:0003094",
- "HP:0010935",
- "UBERON:0001474",
- "UPHENO:0002803",
- "HP:0000598",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UBERON:0000004",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
"UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0002632",
- "UBERON:0000489",
- ],
- "has_phenotype_closure_label": [
- "Vitiligo",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "decreased biological_process",
- "sensory perception",
- "Abnormality of the ear",
- "nervous system process",
- "decreased sensory perception",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
- "orbital region phenotype",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
- "system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ear phenotype",
- "increased pigmentation",
- "Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
- "olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
- "Macule",
- "anatomical point",
- "increased size of the material anatomical entity",
- "pigmentation phenotype",
- "increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0076941",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0025808",
+ "HP:0009115",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UBERON:0001440",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UBERON:0011582",
+ "HP:0040068",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0076799",
+ "UPHENO:0025176",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "HP:0002813",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0086633",
+ "UPHENO:0025553",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0009380",
+ "HP:0007364",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0002983",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "UPHENO:0026308",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UBERON:0002113",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UBERON:0015061",
+ "UPHENO:0077348",
+ "UPHENO:0026811",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0026317",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0026506",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UBERON:0000026",
+ "HP:0001574",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0011568",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0003227",
+ "UPHENO:0025855",
+ "UBERON:0002104",
+ "UPHENO:0004507",
+ "UBERON:0004288",
+ "UPHENO:0025961",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0011573",
+ "UPHENO:0080187",
+ "UPHENO:0025652",
+ "UBERON:0003101",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UPHENO:0076754",
+ "UPHENO:0026183",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0003055",
+ "UPHENO:0003415",
+ "UBERON:0000990",
+ "UPHENO:3000004",
+ "HP:0009943",
+ "HP:0008678",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0008548",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "UPHENO:0053572",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0005025",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0000991",
+ "UPHENO:0026181",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0053566",
+ "UPHENO:0008604",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
+ "UPHENO:0025776",
+ "CL:0000225",
+ "UBERON:0001434",
+ "UBERON:0001423",
+ "UBERON:0002199",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0005561",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UPHENO:0003811",
+ "UBERON:0000468",
+ "UPHENO:0002548",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "MPATH:105",
+ "CL:0000988",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0032309",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "HP:0001881",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UBERON:0002495",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "HP:0011893",
+ "UPHENO:0085371",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UPHENO:0006894",
+ "HP:0001911",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UBERON:0000383",
+ "UPHENO:0087427",
+ "HP:0032251",
+ "UPHENO:0076703",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UPHENO:0025585",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0001017",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0026806",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "CL:0000255",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0053644",
+ "UPHENO:0086176",
+ "HP:0012372",
+ "UPHENO:0063787",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UPHENO:0008593",
+ "UPHENO:0009011",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0013702",
+ "UPHENO:0025845",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UPHENO:0076692",
+ "UPHENO:0004595",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "MPATH:603",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "UPHENO:0026813",
+ "HP:0012243",
+ "UPHENO:0027017",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "HP:0000978",
+ "UPHENO:0002782",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "HP:0000478",
+ "HP:0000951",
+ "HP:0010987",
+ "CL:0000457",
+ "UPHENO:0026309",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "HP:0000077",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "HP:0012210",
+ "UPHENO:0009163",
+ "UBERON:0001062",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "UPHENO:0002586",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0003088",
+ "UBERON:0010912",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UBERON:0010708",
+ "UPHENO:0001001",
+ "UPHENO:0000543",
+ "CL:0000458",
+ "MPATH:1000",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0077391",
+ "UPHENO:0026507",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0011531",
+ "UBERON:0011216",
+ "UPHENO:0002945",
+ "UPHENO:0002526",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UBERON:0000079",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "HP:0012758",
+ "BFO:0000002",
+ "UBERON:0000467",
+ "UPHENO:0011931",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UBERON:0002371",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0004064",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0004375",
+ "UPHENO:0008430",
+ "UBERON:0000481",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176",
+ ],
+ "has_phenotype_closure_label": [
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "decreased multicellular organismal process",
+ "DNA damage response phenotype",
"Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
+ "Hearing abnormality",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
+ "decreased qualitatively multicellular organismal process",
"sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
- "negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
- "axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
+ "Growth delay",
+ "decreased height of the multicellular organism",
"decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
+ "decreased size of the multicellular organism",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "Ectopic kidney",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Anemia",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "Abnormality of skin pigmentation",
+ "increased pigmentation in skin of body",
+ "biological_process rate phenotype",
+ "primary circulatory organ phenotype",
+ "heart",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
"material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
- "Chromosomal breakage induced by crosslinking agents",
+ "superficial fascia",
+ "Abnormality of the eye",
+ "pathological phenotype observation",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
"multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
- "endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
- "lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
+ "Abnormal heart morphology",
+ "biological_process phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "obsolete protein-containing material entity",
+ "pathological anatomical entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
+ "forebrain",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "negative regulation of biological process",
"anucleate cell",
- "dentary",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
"programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
- "Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
+ "homeostatic process",
+ "cellular process",
+ "genitourinary system phenotype",
+ "male organism phenotype",
"Chromosome breakage",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Abnormality of the nervous system",
+ "Neurodevelopmental delay",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "manual digit 1 phalanx endochondral element",
+ "Global developmental delay",
"Abnormal platelet count",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
- "integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
- "decreased size of the anatomical structure",
- "bone of lower jaw",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
+ "Decreased anatomical entity mass",
+ "process",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
"growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
- "localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
- "arm bone phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
"camera-type eye morphology phenotype",
- "musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
- "hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
+ "Abnormality of globe size",
+ "multicellular organismal process",
+ "absent radius bone",
"camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
- "Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "craniocervical region phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
"digit 1",
- "anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
"multicellular anatomical structure phenotype",
- "absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
+ "Abnormal renal morphology",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "segment of manus",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
+ "absent kidney",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
"digit 1 or 5 phenotype",
- "dermatocranium phenotype",
- "localised multicellular anatomical structure",
- "platelet",
- "primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
"limb segment",
- "decreased height of the multicellular organism",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "root",
+ "Abnormal platelet morphology",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "vasculature phenotype",
"aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "Abnormality of reproductive system physiology",
+ "musculature of body phenotype",
+ "musculature of body",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "absent bone of appendage girdle complex",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "Absent forearm bone",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "appendicular skeleton phenotype",
+ "absent forelimb zeugopod bone",
+ "eyeball of camera-type eye phenotype",
+ "zeugopod",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "circulatory organ phenotype",
"forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "decreased number of material anatomical entity",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "arm phenotype",
+ "absent endochondral element in the limb",
+ "absent endochondral bone",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal forearm bone morphology",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "regulation of cellular biosynthetic process phenotype",
+ "abdomen",
"forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
"kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "ectoderm-derived structure",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "male reproductive system",
+ "cardiovascular system",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Abnormal reticulocyte morphology",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
"appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
- "abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
+ "absent mesoderm-derived structure in the forelimb",
"forelimb bone phenotype",
- "pectoral appendage skeleton",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
"pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
+ "skeletal system morphology phenotype",
+ "male reproductive organ",
+ "biogenic amine secreting cell",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "pectoral appendage skeleton phenotype",
+ "subdivision of organism along appendicular axis",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "manus bone",
+ "absent endochondral element",
+ "Abnormality of the immune system",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "face phenotype",
"radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
+ "Aplasia involving forearm bones",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "localised gonad",
+ "absent lateral structure",
+ "reproductive organ",
+ "skeleton phenotype",
+ "localised anatomical entity",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "reproductive system phenotype",
+ "integumental system phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "localised testis",
+ "localised anatomical structure",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "multi-limb segment region",
+ "testis",
+ "granulocyte morphology phenotype",
+ "Abnormal external genitalia",
+ "musculoskeletal system phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "Abnormality of the male genitalia",
+ "bone element",
+ "vision/eye phenotype",
+ "secretory cell",
+ "tissue",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
"anatomical entity morphology phenotype",
- "forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
+ "integument",
+ "nervous system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "Abnormality of the skin",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeleton of limb",
+ "external genitalia phenotype",
+ "integumental system",
+ "cavitated compound organ phenotype",
+ "Cryptorchidism",
+ "number of anatomical enitites of type kidney phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "immune system",
+ "absent trunk region element in the renal system",
+ "decreased number of cell",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "excretory system",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "head",
+ "bone marrow",
+ "anatomical system",
"nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
+ "Abnormal leukocyte count",
+ "nervous system physiology phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "sensory perception phenotype",
+ "increased pigmentation",
"upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
+ "limb long bone",
+ "heart plus pericardium",
"absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
+ "response to stimulus phenotype",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "Abnormal bleeding",
+ "cell",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "absent forelimb bone in the forelimb",
+ "blood cell",
+ "Renal agenesis",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "number of cell phenotype",
+ "Abnormal testis morphology",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "vascular system",
+ "nucleate cell",
+ "absent anatomical structure in the renal system",
+ "granulocyte",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "regional part of nervous system",
+ "Reticulocytopenia",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
"gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
- "digestive system element",
- "pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
+ "regulation of gene expression",
+ "localised multicellular anatomical structure",
+ "hemolymphoid system",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "paired limb/fin skeleton phenotype",
"arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
- "renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
- "craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
+ "anatomical entity phenotype",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "paired limb/fin segment",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "Abnormality of the genitourinary system",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skeletal element",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "localised reproductive organ",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased number of leukocyte",
+ "skeleton of limb phenotype",
+ "absent compound organ",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "renal system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "organ phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "Renal hypoplasia/aplasia",
+ "skeletal element phenotype",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
"Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "sensory perception of sound",
+ "main body axis",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "absent abdominal segment element",
+ "absent multicellular anatomical structure",
+ "decreased system process",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "erythrocyte",
+ "absent material anatomical entity in the multicellular organism",
+ "absent multicellular anatomical structure in the renal system",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "circulatory disorder",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "abdominal segment of trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "continuant",
+ "neutrophil phenotype",
+ "eye movement phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "thoracic segment organ phenotype",
+ "Generalized abnormality of skin",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "absent anatomical structure in the multicellular organism",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
+ "regulation of biological process",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
"Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
+ "forelimb zeugopod bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "cardiovascular system morphology phenotype",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neutropenia",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "skin of body phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of metabolism/homeostasis",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "entity",
"anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
- "renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
- "reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
- "aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
- "integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
+ "Abnormal neutrophil count",
+ "absent compound organ in the renal system",
+ "trunk region element",
+ "upper limb segment phenotype",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "mesoderm-derived structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type compound organ phenotype",
+ "Abnormal erythrocyte morphology",
+ "absent trunk region element",
+ "regulation of macromolecule metabolic process phenotype",
+ "absent abdominal segment element in the renal system",
+ "hematopoietic cell",
+ "leukocyte",
+ "absent bone of free limb or fin in the limb",
+ "renal system",
+ "appendicular skeletal system",
+ "absent lateral structure in the renal system",
+ "renal system morphology phenotype",
+ "limb phenotype",
+ "regional part of brain phenotype",
+ "organ",
"sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
- "Growth delay",
- "biological_process",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "growth",
- "regulation of gene expression phenotype",
- "increased size of the olfactory organ",
+ "ectoderm-derived structure phenotype",
+ "musculature phenotype",
+ "absent limb long bone",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic anatomical entity",
"delayed biological_process",
- "delayed growth",
- "abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
- "localised abdomen element",
- "abdominal segment element phenotype",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "nervous system process",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "erythroid lineage cell",
+ "platelet",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
],
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0001083",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi renotubular syndrome",
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
"adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0019391",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia",
+ "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
+ "provided_by": "phenio_nodes",
+ "xref": [
+ "DOID:13636",
+ "GARD:6425",
+ "ICD9:284.09",
+ "MEDGEN:41967",
+ "MESH:D005199",
+ "MedDRA:10055206",
+ "NANDO:1200303",
+ "NANDO:1200891",
+ "NANDO:2200652",
+ "NCIT:C62505",
+ "NORD:1132",
+ "OMIMPS:227650",
+ "Orphanet:84",
+ "SCTID:30575002",
+ "UMLS:C0015625",
+ ],
+ "synonym": [
+ "Fanconi anemia",
+ "Fanconi pancytopenia",
+ "Fanconi panmyelopathy",
+ "Fanconi's anaemia",
+ "Fanconi's anemia",
+ "Panmyelopathy, Fanconi",
+ "pancytopenia, congenital",
+ "primary erythroid hypoplasia",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100587",
+ "HP:0100542",
+ "HP:0100026",
+ "HP:0040071",
+ "HP:0012639",
+ "HP:0012041",
+ "HP:0010469",
+ "HP:0010293",
+ "HP:0008678",
+ "HP:0000377",
+ "HP:0008053",
+ "HP:0007565",
+ "HP:0006824",
+ "HP:0006265",
+ "HP:0006101",
+ "HP:0005344",
+ "HP:0004349",
+ "HP:0004209",
+ "HP:0003022",
+ "HP:0002863",
+ "HP:0002827",
+ "HP:0002823",
+ "HP:0002575",
+ "HP:0002414",
+ "HP:0002251",
+ "HP:0002245",
+ "HP:0002119",
+ "HP:0002023",
+ "HP:0002007",
+ "HP:0001824",
+ "HP:0001770",
+ "HP:0001763",
+ "HP:0001760",
+ "HP:0001679",
+ "HP:0001646",
+ "HP:0001643",
+ "HP:0001639",
+ "HP:0001636",
+ "HP:0001631",
+ "HP:0001562",
+ "HP:0001537",
+ "HP:0001511",
+ "HP:0001510",
+ "HP:0001392",
+ "HP:0001347",
+ "HP:0001199",
+ "HP:0000864",
+ "HP:0000813",
+ "HP:0000639",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000520",
+ "HP:0000518",
+ "HP:0000505",
+ "HP:0000504",
+ "HP:0000492",
+ "HP:0000486",
+ "HP:0000483",
+ "HP:0000478",
+ "HP:0000453",
+ "HP:0000365",
+ "HP:0000364",
+ "HP:0000347",
+ "HP:0000340",
+ "HP:0000324",
+ "HP:0000316",
+ "HP:0000286",
+ "HP:0000268",
+ "HP:0000238",
+ "HP:0000218",
+ "HP:0000175",
+ "HP:0000135",
+ "HP:0000130",
"HP:0000083",
- "HP:0003355",
+ "HP:0000072",
+ "HP:0000047",
+ "HP:0000035",
+ "HP:0000028",
+ "HP:0000027",
+ "HP:0000010",
+ "HP:0012745",
+ "HP:0012210",
+ "HP:0007874",
+ "HP:0002664",
+ "HP:0002650",
+ "HP:0001671",
+ "HP:0001263",
+ "HP:0001249",
+ "HP:0000252",
+ "HP:0000079",
+ "HP:0007400",
+ "HP:0006501",
+ "HP:0005522",
"HP:0004322",
- "HP:0003126",
- "HP:0001324",
+ "HP:0003220",
+ "HP:0002817",
+ "HP:0001903",
+ "HP:0001882",
+ "HP:0001873",
+ "HP:0001871",
+ "HP:0001172",
+ "HP:0001053",
+ "HP:0001000",
+ "HP:0000508",
],
"has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal preputium morphology",
+ "Abnormal localization of kidney",
+ "Arteriovenous malformation",
+ "Abnormal morphology of ulna",
+ "Abnormal nervous system morphology",
+ "Decreased fertility in males",
+ "Absent testis",
+ "Aplasia/Hypoplasia of the uvula",
+ "Renal hypoplasia/aplasia",
+ "Abnormal pinna morphology",
+ "Aplasia/Hypoplasia of the iris",
+ "Multiple cafe-au-lait spots",
+ "Cranial nerve paralysis",
+ "Aplasia/Hypoplasia of fingers",
+ "Finger syndactyly",
+ "Abnormal carotid artery morphology",
+ "Reduced bone mineral density",
+ "Clinodactyly of the 5th finger",
+ "Hypoplasia of the ulna",
+ "Myelodysplasia",
+ "Hip dislocation",
+ "Abnormal femur morphology",
+ "Tracheoesophageal fistula",
+ "Spina bifida",
+ "Aganglionic megacolon",
+ "Meckel diverticulum",
+ "Ventriculomegaly",
+ "Anal atresia",
+ "Frontal bossing",
+ "Weight loss",
+ "Toe syndactyly",
+ "Pes planus",
+ "Abnormal foot morphology",
+ "Abnormal aortic morphology",
+ "Abnormal aortic valve morphology",
+ "Patent ductus arteriosus",
+ "Hypertrophic cardiomyopathy",
+ "Tetralogy of Fallot",
+ "Atrial septal defect",
+ "Oligohydramnios",
+ "Umbilical hernia",
+ "Intrauterine growth retardation",
+ "Growth delay",
+ "Abnormality of the liver",
+ "Hyperreflexia",
+ "Triphalangeal thumb",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Bicornuate uterus",
+ "Nystagmus",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Proptosis",
+ "Cataract",
+ "Visual impairment",
+ "Abnormality of vision",
+ "Abnormal eyelid morphology",
+ "Strabismus",
+ "Astigmatism",
+ "Abnormality of the eye",
+ "Choanal atresia",
+ "Hearing impairment",
+ "Hearing abnormality",
+ "Micrognathia",
+ "Sloping forehead",
+ "Facial asymmetry",
+ "Hypertelorism",
+ "Epicanthus",
+ "Dolichocephaly",
+ "Hydrocephalus",
+ "High palate",
+ "Cleft palate",
+ "Hypogonadism",
+ "Abnormality of the uterus",
"Renal insufficiency",
- "Aminoaciduria",
+ "Hydroureter",
+ "Hypospadias",
+ "Abnormal testis morphology",
+ "Cryptorchidism",
+ "Azoospermia",
+ "Recurrent urinary tract infections",
+ "Short palpebral fissure",
+ "Abnormal renal morphology",
+ "Almond-shaped palpebral fissure",
+ "Neoplasm",
+ "Scoliosis",
+ "Abnormal cardiac septum morphology",
+ "Global developmental delay",
+ "Intellectual disability",
+ "Microcephaly",
+ "Abnormality of the urinary system",
+ "Irregular hyperpigmentation",
+ "Aplasia/Hypoplasia of the radius",
+ "Pyridoxine-responsive sideroblastic anemia",
"Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness",
- ],
- "has_phenotype_count": 16,
- "has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "HP:0003126",
- "CHEBI:37622",
+ "Abnormality of chromosome stability",
+ "Abnormality of the upper limb",
+ "Anemia",
+ "Leukopenia",
+ "Thrombocytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal thumb morphology",
+ "Hypopigmented skin patches",
+ "Abnormality of skin pigmentation",
+ "Ptosis",
+ ],
+ "has_phenotype_count": 106,
+ "has_phenotype_closure": [
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
+ "UPHENO:0077889",
+ "CL:0000233",
+ "CL:0000225",
+ "HP:0001872",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
+ "HP:0001881",
+ "UPHENO:0063722",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
+ "UPHENO:0088337",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
+ "HP:0011017",
+ "HP:0001939",
+ "UPHENO:0075159",
"UPHENO:0080351",
+ "HP:0004322",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
+ "HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
+ "HP:0001903",
+ "GO:0030218",
+ "GO:0030097",
+ "CL:0000764",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
+ "UPHENO:0080187",
+ "HP:0002818",
+ "HP:0006501",
+ "HP:0007364",
+ "HP:0000252",
+ "UPHENO:0075220",
+ "HP:0000240",
+ "GO:0050890",
+ "HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
+ "HP:0200005",
+ "UPHENO:0046487",
+ "UPHENO:0046755",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
+ "UPHENO:0085874",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
+ "UPHENO:0052965",
+ "UPHENO:0002599",
+ "UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
+ "UBERON:0004054",
+ "CL:0000015",
+ "CL:0000408",
+ "UPHENO:0049940",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
+ "UPHENO:0078452",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
+ "UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
+ "UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
+ "UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
+ "UBERON:0001333",
+ "UBERON:0036295",
+ "UBERON:0006555",
+ "HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "HP:0012211",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
+ "HP:5201015",
+ "UPHENO:0033592",
+ "UPHENO:0033587",
+ "UPHENO:0063527",
+ "UPHENO:0063515",
+ "UPHENO:0001392",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
+ "UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
+ "UPHENO:0014240",
+ "UPHENO:0011531",
+ "HP:0000238",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
+ "UPHENO:0001231",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
+ "UPHENO:0072195",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0084729",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
+ "HP:0011821",
+ "UPHENO:0080087",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
+ "UPHENO:0050234",
+ "UPHENO:0005513",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
+ "UBERON:0010425",
+ "UBERON:0005726",
+ "UPHENO:0005230",
+ "UBERON:0000004",
+ "HP:0005105",
+ "UPHENO:0003048",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
+ "UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
+ "UBERON:0010409",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
+ "UBERON:0000015",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
+ "UPHENO:0050620",
+ "UPHENO:0004621",
+ "UPHENO:0052165",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
+ "HP:0000518",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
+ "UPHENO:0076761",
+ "HP:0000520",
+ "UBERON:0003840",
+ "UBERON:0035639",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
+ "UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
+ "UPHENO:0076766",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
+ "UBERON:0013515",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
+ "UPHENO:0075995",
+ "UPHENO:0003069",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
+ "UBERON:0012151",
+ "HP:0001172",
+ "UPHENO:0051276",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
+ "UPHENO:0049622",
+ "NBO:0000001",
+ "UPHENO:0002941",
+ "NBO:0000403",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
+ "UPHENO:0050079",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
+ "UPHENO:0002780",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
+ "UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0052160",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
+ "UPHENO:0005642",
+ "HP:0001511",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
+ "UPHENO:0033610",
+ "UPHENO:0033615",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
+ "UPHENO:0002532",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
+ "UPHENO:0003827",
+ "HP:0011994",
+ "UPHENO:0086857",
+ "UBERON:0002081",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
+ "HP:0011563",
+ "UBERON:0000473",
+ "HP:0011545",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
+ "UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
+ "UPHENO:0004724",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
+ "UPHENO:0033581",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
+ "UBERON:0018674",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
+ "UPHENO:0005134",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
+ "UBERON:0003498",
+ "UPHENO:0002948",
+ "HP:0000347",
"UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
+ "UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
+ "HP:0000365",
+ "UPHENO:0033579",
+ "HP:0000478",
+ "UPHENO:0005177",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
+ "UPHENO:0086866",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "HP:0004348",
+ "UPHENO:0046465",
+ "UPHENO:0076743",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
+ "UPHENO:0005118",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
+ "UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
+ "UPHENO:0041098",
+ "GO:0009888",
+ "UPHENO:0041041",
+ "UPHENO:0084767",
+ "HP:0001770",
+ "UPHENO:0078347",
+ "HP:0004325",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
+ "UPHENO:0010795",
+ "GO:0007605",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
+ "HP:0001507",
+ "HP:0002683",
+ "UPHENO:0002700",
+ "UPHENO:0002815",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
+ "UPHENO:0049904",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
+ "UBERON:0004766",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
+ "UPHENO:0003034",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
+ "UBERON:0000020",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
+ "UPHENO:0033607",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
+ "UBERON:0005983",
+ "UBERON:0001638",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
+ "UPHENO:0080300",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
+ "HP:0410043",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
+ "UBERON:0008001",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
+ "HP:0012443",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
+ "UBERON:0007832",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
+ "UBERON:0002049",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
+ "UBERON:0001734",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
+ "HP:0000366",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
+ "UPHENO:0068971",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
+ "UBERON:0001890",
+ "UBERON:0019221",
+ "UBERON:0012141",
+ "HP:0000268",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
+ "UPHENO:0086628",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
+ "UPHENO:0001025",
+ "UPHENO:0002952",
+ "UPHENO:0086699",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
+ "UPHENO:0002903",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
+ "HP:0033127",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
+ "UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
+ "HP:0002060",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
+ "HP:0000957",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
"UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
- "CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:33575",
- "UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "HP:0010935",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
+ "UPHENO:0004962",
+ "UBERON:0002204",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
"UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
+ "UPHENO:0002635",
+ "UBERON:0000173",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
+ "UPHENO:0054957",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
+ "BFO:0000015",
+ "GO:0043473",
+ "UPHENO:0002585",
+ "UPHENO:0004064",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
+ "UBERON:0002416",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0002601",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
+ "UPHENO:0003410",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
+ "UBERON:0010740",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
+ "UPHENO:0081581",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
+ "UBERON:0003129",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
+ "UBERON:0006598",
+ "UBERON:0010758",
+ "UBERON:0001486",
+ "UPHENO:0002949",
+ "HP:0001367",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
+ "UBERON:0000467",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
"UPHENO:0002360",
- "UPHENO:0004503",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
+ "HP:0001373",
+ "UBERON:0017672",
+ "HP:0000818",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
+ "UPHENO:0088186",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
+ "UPHENO:0046552",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UBERON:0000064",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
+ "UPHENO:0077391",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
+ "HP:0001053",
+ "UPHENO:0084734",
+ "UPHENO:0049699",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
+ "UBERON:0000165",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
+ "UPHENO:0072415",
+ "UPHENO:0069327",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
+ "UPHENO:0002816",
+ "UPHENO:0002553",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
+ "UPHENO:0063558",
+ "HP:0000172",
+ "UPHENO:0002659",
+ "UBERON:0007828",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0005058",
+ "HP:0033353",
+ "UPHENO:0002732",
+ "UBERON:0004456",
+ "UBERON:0011595",
+ "UBERON:0002553",
+ "UBERON:0002514",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
+ "UBERON:0001444",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
+ "HP:0000035",
+ "HP:0011842",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
"UPHENO:0002909",
- "HP:0031980",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
+ "UPHENO:0002719",
+ "HP:0010866",
+ "UPHENO:0015277",
"UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
+ "UBERON:5002544",
+ "HP:0002011",
+ "UBERON:0000479",
+ "HP:0000119",
+ "UPHENO:0063565",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
+ "UBERON:0010741",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
"HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
+ "UPHENO:0002713",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
+ "UPHENO:0069047",
+ "UPHENO:0014971",
+ "UPHENO:0002964",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
+ "UBERON:0005893",
"UPHENO:0003413",
- "UPHENO:0002963",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
+ "HP:0100790",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
"UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
+ "UBERON:0002113",
"UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
- "HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
"UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
- "UPHENO:0069266",
- "HP:0011842",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
+ "UBERON:5102389",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
+ "UBERON:0000475",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
"UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
- "GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
- "HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
- "UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
+ "HP:0100760",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
+ "UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
+ "UPHENO:0046505",
+ "UPHENO:0002859",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
"UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
+ "GO:0048729",
+ "GO:0019953",
+ "UPHENO:0018390",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
"UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
- "UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
+ "UPHENO:0003049",
+ "UBERON:0004921",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
+ "UBERON:0010323",
+ "UBERON:0002102",
+ "HP:0000277",
+ "UPHENO:0087006",
+ "GO:0003008",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
+ "UPHENO:0049874",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
+ "UPHENO:0046405",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
+ "HP:0100542",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
+ "UBERON:0000045",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
+ "UPHENO:0069030",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
+ "RO:0002577",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UPHENO:0053632",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
"UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
+ "UBERON:0010538",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
"UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
"HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
- "UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
- "HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
+ "UBERON:0012358",
"UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
"UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
+ "UPHENO:0041821",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
+ "UPHENO:0086595",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002803",
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518",
],
"has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
+ "Hypopigmented skin patches",
+ "serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "decreased number of cell",
+ "nucleate cell",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
+ "Abnormal immune system morphology",
+ "number of hematopoietic cell phenotype",
+ "decreased number of anatomical structure",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
+ "metabolic process",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
"Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
"decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
+ "Abnormal erythrocyte morphology",
+ "erythroid lineage cell morphology phenotype",
+ "blood cell phenotype",
+ "Anemia of inadequate production",
+ "blood cell",
+ "erythrocyte differentiation",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormal cerebral morphology",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
+ "cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
+ "Scoliosis",
+ "Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "immune system phenotype",
+ "cellular developmental process",
+ "Recurrent urinary tract infections",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
+ "absent anatomical entity in the semen",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
+ "absent gamete",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
+ "male reproductive organ physiology phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "localised gonad",
+ "male urethral meatus",
+ "urethra phenotype",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
+ "urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
+ "Abnormal ureter morphology",
+ "Hydroureter",
+ "excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
+ "reproductive structure physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
+ "incomplete closing of the ectoderm-derived structure",
+ "incomplete closing of the neural crest-derived structure",
+ "incomplete closing of the multi-tissue structure",
+ "incomplete closing of the secondary palate",
+ "increased height of the anatomical entity",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
+ "increased height of the secondary palate",
+ "cerebrospinal fluid",
+ "cerebrospinal fluid phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
+ "increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
+ "increased length of the anatomical structure",
+ "zone of skin",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "anatomical line phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "non-material anatomical boundary phenotype",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
+ "asymmetry of face phenotype",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "dentary",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
+ "jaw skeleton morphology phenotype",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
+ "decreased qualitatively sensory perception of sound",
+ "sensory perception of mechanical stimulus phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
+ "olfactory system",
+ "chemosensory system",
+ "shape anatomical entity",
+ "naris atresia",
+ "naris",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
+ "cornea phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "incomplete closing of the organ",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
+ "decreased sensory perception of sound",
+ "asymmetrically curved anatomical entity",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
+ "Strabismus",
+ "decreased qualitatively sensory perception of light stimulus",
+ "skeleton of limb phenotype",
+ "sensory perception",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
+ "opaque lens of camera-type eye",
+ "lens of camera-type eye morphology phenotype",
"anatomical entity height phenotype",
- "delayed biological_process",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
+ "transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
+ "protruding eyeball of camera-type eye",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
+ "palpebral fissure",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
+ "cranial nerve related reflex",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
+ "Nystagmus",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
+ "camera-type eye",
+ "Abnormality of the uterus",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
+ "internal female genitalia",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
+ "bicornuate uterus",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
+ "hypothalamus-pituitary axis",
+ "manual digit 1 morphology phenotype",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "manual digit 1",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
+ "phalanx of manus",
+ "nervous system process",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
+ "gland phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
+ "multi organ part structure phenotype",
+ "gland",
+ "decreased developmental process",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organismal process phenotype",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Growth delay",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
+ "umbilicus morphology phenotype",
+ "tissue phenotype",
+ "herniated abdominal wall",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
+ "Hernia of the abdominal wall",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
+ "amniotic fluid",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
+ "organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
+ "organism substance",
+ "late embryo phenotype",
+ "Abnormality of the amniotic fluid",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
+ "late embryo",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
+ "incomplete closing of the interatrial septum",
+ "cardiac septum morphology phenotype",
+ "Abnormal atrial septum morphology",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
+ "Conotruncal defect",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "orbital region phenotype",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the myocardium",
+ "heart layer morphology phenotype",
+ "heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
+ "organ part physiology phenotype",
+ "decreased functionality of the organ part",
+ "myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
+ "mesoderm-derived structure physiology phenotype",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
+ "incomplete closing of the thoracic segment blood vessel",
+ "conceptus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
+ "incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
+ "anatomical entity morphology in the heart phenotype",
+ "uterus morphology phenotype",
+ "valve",
+ "anatomical structure",
+ "heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
+ "left cardiac chamber phenotype",
+ "Abnormality of the immune system",
+ "circulatory organ",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
+ "thoracic cavity blood vessel phenotype",
+ "great vessel of heart",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
+ "longitudinal arch of pes",
+ "flat longitudinal arch of pes",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
+ "fused pedal digit and anatomical entity",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
+ "Decreased multicellular organism mass",
+ "anatomical entity mass phenotype",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
"Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
+ "organ subunit",
+ "forebrain",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
+ "Abnormality of the ocular adnexa",
+ "tetrapod frontal bone morphology phenotype",
+ "limb bone",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
+ "increased pigmentation",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
+ "dermatocranium",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
+ "cranium",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
+ "anus",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
+ "olfactory organ phenotype",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
+ "increased size of the material anatomical entity",
+ "Abnormal brain morphology",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
+ "brain morphology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "increased size of the ectoderm-derived structure",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
+ "increased length of the skin of head",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
+ "epithelial tube",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
+ "tracheobronchial tree",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
+ "Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
+ "intromittent organ",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
+ "femur",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
"decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
+ "Neoplasm by anatomical site",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "deviation of manual digit 5 towards the middle",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
+ "decreased size of the ectoderm-derived structure",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
+ "decreased length of long bone",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "pes bone phenotype",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
+ "ulna hypoplasia",
+ "abdomen element physiology phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
+ "decreased size of the bone element",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
+ "Abnormality of thrombocytes",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
+ "axial skeleton plus cranial skeleton",
+ "Clinodactyly of the 5th finger",
+ "endochondral element",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
+ "lower jaw region",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
+ "musculature of body phenotype",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
+ "multicellular organism",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
+ "abdomen element",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
+ "All",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
+ "manus phenotype",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
+ "external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "homeostatic process",
+ "zone of skin morphology phenotype",
+ "autopod bone",
+ "musculoskeletal system phenotype",
+ "biological_process phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "eyelid",
+ "sloped anatomical entity",
+ "decreased size of the forelimb bone",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
+ "Abnormality of skin pigmentation",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
+ "multi-limb segment region phenotype",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
+ "skin of body",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
+ "skin of body phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "developing anatomical structure",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
+ "arterial system",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
+ "abdominal segment element phenotype",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
+ "Syndactyly",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
+ "digit 5 plus metapodial segment",
+ "multicellular organism phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
+ "subdivision of trunk",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
+ "Abnormality of the upper limb",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
+ "shape digit",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
+ "Lower extremity joint dislocation",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
+ "localised testis",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "leukocyte",
+ "Finger syndactyly",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
+ "Abnormality of the testis size",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
+ "Abnormality of the skin",
+ "nervous system",
+ "secretory cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
+ "abdomen",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
+ "forelimb endochondral element",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "localised material anatomical entity",
+ "decreased length of endochondral bone",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
+ "tube closure",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
+ "Abnormal forearm morphology",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
+ "pectoral appendage phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
+ "arm bone phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
+ "decreased length of anatomical structure",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
+ "Abnormality of movement",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
"renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
+ "deviation of manual digit 5",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
+ "incomplete closing of the anatomical structure",
+ "musculature phenotype",
+ "forelimb zeugopod bone",
+ "opening of the anatomical entity",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
"renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
+ "intromittent organ phenotype",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
+ "compound organ phenotype",
+ "anatomical structure mass phenotype",
+ "appendicular skeleton",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
+ "parasympathetic nervous system",
+ "Abnormality of the hand",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
+ "Abnormal shape of the frontal region",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
+ "tunica fibrosa of eyeball",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
"genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
+ "central nervous system gray matter layer phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
+ "Sloping forehead",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
+ "anatomical entity physiology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
"tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element physiology phenotype",
+ "forelimb skeleton",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
+ "hemopoiesis",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
"abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
+ "limb",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
"trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
+ "Decreased fertility in males",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
"anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
+ "Abnormal foot morphology",
+ "digestive system element",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
"mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
+ "growth",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
+ "aplasia or hypoplasia of skull",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
"organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
+ "pedal digit bone",
+ "autopod endochondral element",
+ "trunk region element",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
"mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
+ "skeletal joint dislocation",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
+ "nervous system cell part layer",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal enteric nervous system morphology",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
+ "Abnormality of the forehead",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
"homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
+ "neural tube",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
+ "embryo phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
"decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
+ "Abnormal nasal morphology",
+ "Abnormality of the cardiovascular system",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
+ "alimentary part of gastrointestinal system",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
+ "pes bone",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
+ "Abnormality of the upper urinary tract",
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
+ "Abnormal skull morphology",
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
"multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
- "ossification",
- "carbohydrate",
- "skeletal system",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype",
],
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "name": "Fanconi anemia complementation group O",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
- "HP:0001903",
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
"HP:0004322",
- "HP:0000252",
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023",
],
"has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
- "Anemia",
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
"Short stature",
- "Microcephaly",
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
- "HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
- "UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
"UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
- "UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
- "UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
- "HP:0000118",
- "UPHENO:0086016",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
"NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
- "BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
- "UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
- "UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
- "UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
- "CL:0000763",
- "UPHENO:0081547",
- "HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
- "CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
+ "UPHENO:0002902",
"NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
- "UPHENO:0080010",
- "HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
- "UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
"UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
- "UPHENO:0005092",
- "UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
- "UPHENO:0050007",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
- "HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
- "GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
- "GO:0042592",
- "GO:0008152",
- "CHEBI:51143",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
- "HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
+ "UPHENO:0003047",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
"GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
- "UPHENO:0078606",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
"GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
+ "UPHENO:0050040",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
"UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
+ "GO:0010629",
+ "UPHENO:0002411",
"UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
+ "GO:0019222",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0086172",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
+ "UBERON:0010314",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
+ "UBERON:0001442",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
+ "UPHENO:0003415",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
+ "UPHENO:0086635",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0002813",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "UPHENO:0068838",
"GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
- "UBERON:0000153",
- "UPHENO:0002536",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
"GO:0009890",
- "HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
+ "UPHENO:0046741",
+ "RO:0002577",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0081423",
+ "UBERON:0010538",
+ "UPHENO:0080079",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
"HP:0040012",
+ "UPHENO:0046397",
+ "UPHENO:0001001",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
+ "UPHENO:0046445",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
+ "UPHENO:0000541",
+ "UPHENO:0084834",
+ "UPHENO:0046426",
+ "HP:0011314",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UBERON:0003103",
+ "UPHENO:0069030",
+ "HP:0011017",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
"UPHENO:0049620",
- "UPHENO:0075804",
- "CL:0000232",
- "GO:0040007",
- "GO:0048519",
- "UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0076779",
+ "UBERON:0010707",
"UPHENO:0050784",
- "GO:0010629",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0033127",
+ "HP:0002818",
+ "UPHENO:0074335",
+ "BFO:0000004",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
+ "UPHENO:0002559",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
"UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
- "UPHENO:0088162",
- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
+ "UPHENO:0012312",
+ "UBERON:0013702",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0076692",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
+ "UPHENO:0002926",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
+ "UPHENO:0002385",
+ "UPHENO:0001303",
+ "UBERON:8450002",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
+ "UBERON:0000489",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UBERON:0001062",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
"UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002",
+ "UPHENO:0002731",
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
+ "HP:0040064",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
+ "UPHENO:0002963",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
+ "muscle structure",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "negative regulation of biological process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
+ "ectoderm-derived structure",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "male reproductive organ phenotype",
+ "anatomical structure physiology phenotype",
+ "male reproductive organ",
"subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
+ "anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
+ "Renal insufficiency",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
+ "Growth delay",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
+ "renal system physiology phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
+ "abdominal segment element physiology phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
"Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
+ "viscus",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
+ "lateral structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "musculoskeletal system",
+ "long bone",
"skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
"organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "decreased length of digit 1 or 5",
+ "appendicular skeletal system",
+ "Abnormality of the musculature of the upper limbs",
+ "endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
"Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
+ "decreased length of multicellular anatomical structure",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "All",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
"growth",
- "Decreased head circumference",
+ "organ system subdivision phenotype",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
+ "multicellular organism morphology phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "material entity",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
+ "homeostatic process phenotype",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
+ "Abnormality of the kidney",
+ "trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
+ "material anatomical entity phenotype",
+ "regulation of biological process phenotype",
"subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
"multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "disconnected anatomical group",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
+ "subdivision of trunk phenotype",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
"anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
+ "compound organ",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
"organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
+ "decreased size of the anatomical entity in the pectoral complex",
"anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
- "erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
+ "multicellular anatomical structure",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
+ "size of anatomical entity phenotype",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "renal system",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
"decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity",
],
},
{
- "id": "MONDO:0012565",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
+ "name": "Fanconi anemia complementation group P",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
"provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111094",
- "GARD:15500",
- "MEDGEN:372133",
- "MESH:C563657",
- "OMIM:610832",
- "UMLS:C1835817",
- ],
+ "xref": ["DOID:0111092", "GARD:15731", "MEDGEN:854020", "OMIM:613951", "UMLS:C3469542"],
"synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia",
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0002984",
- "HP:0002885",
- "HP:0001631",
+ "HP:0001876",
+ "HP:0000347",
"HP:0009778",
- "HP:0000125",
- "HP:0002667",
- "HP:0009777",
- "HP:0000568",
- "HP:0004808",
- "HP:0001518",
- "HP:0001915",
- "HP:0000470",
- "HP:0003221",
- "HP:0000252",
- "HP:0003006",
- "HP:0008897",
- "HP:0000953",
- "HP:0000316",
+ "HP:0001510",
+ "HP:0000414",
"HP:0000957",
- "HP:0001629",
+ "HP:0001903",
+ "HP:0012745",
"HP:0000085",
- "HP:0000086",
- "HP:0000122",
- "HP:0002023",
- "HP:0000286",
+ "HP:0003221",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0000252",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0000125",
+ "HP:0009777",
+ "HP:0000581",
+ "HP:0002860",
+ "HP:0001045",
],
"has_phenotype_label": [
- "Hypoplasia of the radius",
- "Medulloblastoma",
- "Atrial septal defect",
+ "Pancytopenia",
+ "Micrognathia",
"Short thumb",
- "Pelvic kidney",
- "Nephroblastoma",
- "Absent thumb",
- "Microphthalmia",
- "Acute myeloid leukemia",
- "Small for gestational age",
- "Aplastic anemia",
- "Short neck",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Neuroblastoma",
- "Postnatal growth retardation",
- "Hyperpigmentation of the skin",
- "Hypertelorism",
- "Cafe-au-lait spot",
- "Ventricular septal defect",
- "Horseshoe kidney",
- "Ectopic kidney",
- "Unilateral renal agenesis",
- "Anal atresia",
- "Epicanthus",
- ],
- "has_phenotype_count": 25,
- "has_phenotype_closure": [
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0075878",
- "UPHENO:0072255",
- "UBERON:0001711",
- "UPHENO:0005319",
- "UPHENO:0072414",
- "UBERON:0034921",
- "UPHENO:0072415",
- "UBERON:0013766",
- "UBERON:0001084",
- "UPHENO:0001134",
- "UPHENO:0003021",
- "UPHENO:0076761",
- "UBERON:0001457",
- "UBERON:0012180",
- "UPHENO:0072402",
- "UPHENO:0001360",
- "HP:0025033",
- "UPHENO:0002839",
- "UBERON:0004111",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "UPHENO:0063599",
- "UPHENO:0074230",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0011739",
- "UPHENO:0026227",
- "UPHENO:0026600",
- "UPHENO:0011931",
- "UPHENO:0025661",
- "UPHENO:0011533",
- "UPHENO:0027014",
- "UPHENO:0009011",
- "UPHENO:0026980",
- "UPHENO:0026630",
- "HP:0000104",
- "HP:0000122",
- "UPHENO:0002812",
- "UPHENO:0025187",
- "UPHENO:0025211",
- "UPHENO:0026507",
- "UPHENO:0008545",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "UPHENO:0041226",
- "UPHENO:0041821",
- "UPHENO:0080300",
- "UPHENO:0008827",
- "HP:0001713",
- "UPHENO:0033604",
- "UPHENO:0074245",
- "HP:0001629",
- "HP:0010438",
- "UPHENO:0003828",
- "UBERON:0002094",
- "HP:0001034",
- "HP:0000957",
- "HP:0011355",
- "UBERON:0010222",
- "HP:0000316",
- "UPHENO:0001072",
- "UPHENO:0002887",
- "UPHENO:0072185",
- "UPHENO:0072200",
- "UPHENO:0002864",
- "UPHENO:0001304",
- "UPHENO:0002962",
- "UBERON:0000466",
- "UPHENO:0018424",
- "UPHENO:0072195",
- "UBERON:0000015",
- "UPHENO:0003811",
- "HP:0000286",
- "UPHENO:0074584",
- "HP:0002023",
- "UPHENO:0050008",
- "UBERON:0002097",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "UPHENO:0080377",
- "UPHENO:0000543",
- "HP:0001510",
- "HP:0008897",
- "HP:0004376",
- "HP:0030065",
- "UPHENO:0011770",
- "NCBITaxon:6072",
- "UBERON:0002082",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "UPHENO:0072345",
- "UPHENO:0086866",
- "HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0000955",
- "UPHENO:0072264",
- "UBERON:0002616",
- "UPHENO:0076805",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0010323",
- "HP:0030061",
- "UBERON:0000481",
- "HP:0030669",
- "HP:0002060",
- "UPHENO:0025631",
- "UPHENO:0004802",
- "UBERON:0001890",
- "GO:0060255",
- "UPHENO:0011559",
- "GO:0009889",
- "GO:0031323",
- "GO:0009892",
- "UPHENO:0050126",
- "UPHENO:0049757",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "UPHENO:0050007",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UBERON:0002416",
- "HP:0040012",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "GO:0009890",
- "UBERON:0034944",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "UBERON:0002199",
- "GO:0031327",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
- "UPHENO:0050778",
+ "Growth delay",
+ "Bulbous nose",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Short palpebral fissure",
+ "Horseshoe kidney",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Short stature",
+ "Hearing impairment",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Pelvic kidney",
+ "Absent thumb",
+ "Blepharophimosis",
+ "Squamous cell carcinoma",
+ "Vitiligo",
+ ],
+ "has_phenotype_count": 20,
+ "has_phenotype_closure": [
+ "UPHENO:3000003",
+ "HP:0012733",
+ "HP:0008069",
+ "HP:0002664",
+ "HP:0011793",
+ "HP:0000581",
+ "UPHENO:0011825",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0068941",
+ "UPHENO:0009209",
"GO:0031049",
- "GO:0050789",
- "UPHENO:0002654",
- "UPHENO:0001025",
- "UBERON:0006072",
- "UBERON:0002412",
- "UPHENO:0002769",
- "UPHENO:0002616",
- "UPHENO:0002674",
- "UBERON:0008001",
- "UBERON:0015007",
- "HP:0030063",
- "UBERON:0004247",
- "UBERON:0010913",
- "HP:0009121",
- "UBERON:0000974",
- "UBERON:0001137",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "HP:0025668",
- "UBERON:0002090",
- "UBERON:0001130",
- "HP:0003319",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0004621",
- "UBERON:0006077",
- "UPHENO:0003038",
- "UPHENO:0046571",
- "UPHENO:0003092",
- "UPHENO:0002646",
- "UPHENO:0002813",
- "UPHENO:0004047",
- "UBERON:0005434",
- "UPHENO:0008593",
- "UBERON:0005174",
- "UPHENO:0026308",
+ "UPHENO:0026010",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0009163",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "HP:0000414",
+ "UPHENO:0011531",
+ "UPHENO:0025507",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0008523",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "HP:0009777",
+ "UPHENO:0053588",
+ "UBERON:0001007",
+ "UPHENO:0053601",
+ "HP:0000125",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0053610",
+ "UPHENO:0053633",
+ "HP:0000086",
+ "UBERON:0003101",
+ "UPHENO:0053644",
+ "HP:0012243",
+ "UPHENO:0002868",
+ "UPHENO:0002523",
+ "UBERON:0000079",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "HP:0010461",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0003055",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UPHENO:0008548",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "UPHENO:0002832",
+ "HP:0003026",
+ "UPHENO:0005016",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "HP:0006503",
+ "UPHENO:0086589",
+ "UPHENO:0046460",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "HP:0002973",
+ "UPHENO:0046465",
+ "UBERON:0002199",
+ "HP:0009824",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0068838",
+ "UPHENO:0081314",
+ "UBERON:0002386",
+ "UPHENO:0076718",
"UBERON:0000479",
- "HP:0001873",
- "UPHENO:0063794",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "HP:0001915",
- "UPHENO:0077391",
- "HP:0020047",
- "CL:0000764",
- "HP:0001876",
- "CL:0000232",
- "CL:0000233",
- "CL:0000081",
- "UPHENO:0085344",
- "UPHENO:0077418",
- "UPHENO:0008816",
- "CL:0000225",
- "UBERON:1000021",
- "UPHENO:0085302",
- "UPHENO:0063722",
- "HP:0011873",
- "HP:0012145",
- "UPHENO:0010799",
- "HP:0002977",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0015410",
- "CL:0000457",
- "UPHENO:0015277",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0004173",
+ "HP:0002818",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UBERON:0010703",
+ "UPHENO:0046405",
+ "HP:0011314",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "UPHENO:0069030",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "UPHENO:0068839",
+ "UPHENO:0026146",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "UPHENO:0004595",
+ "UPHENO:0069064",
+ "HP:0009380",
+ "UPHENO:0002715",
+ "HP:0007364",
+ "UPHENO:0002866",
+ "UPHENO:0088170",
"UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0002548",
- "HP:0000086",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "UBERON:0000481",
"HP:0000707",
- "HP:0100886",
- "UPHENO:0076791",
- "UBERON:0000915",
+ "UPHENO:0004521",
+ "UPHENO:0081788",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0000811",
"HP:0012639",
- "CL:0002031",
- "UPHENO:0004469",
- "GO:0010556",
- "UPHENO:0003827",
- "UPHENO:0003027",
- "HP:0100836",
- "UPHENO:0053580",
- "UBERON:0010707",
- "UPHENO:0001147",
- "UPHENO:0086857",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0075804",
- "HP:0000119",
- "HP:0030067",
- "UPHENO:0012440",
- "UPHENO:0069062",
- "UPHENO:0033565",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "HP:0009821",
- "UBERON:0010000",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UPHENO:0046483",
- "UPHENO:0001570",
- "UPHENO:0002983",
- "UPHENO:0069194",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UBERON:0000062",
- "UPHENO:0002643",
+ "UBERON:0000955",
+ "UBERON:0001017",
+ "HP:0000240",
+ "UBERON:0012141",
+ "UPHENO:0046403",
+ "UBERON:0001890",
+ "UPHENO:0080187",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "GO:0050789",
+ "UPHENO:0053632",
+ "UPHENO:0076754",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0052161",
+ "GO:0050954",
+ "UPHENO:0046479",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0052178",
+ "UBERON:0003135",
+ "UPHENO:0082875",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UPHENO:0046753",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005596",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0005513",
+ "UPHENO:0075159",
+ "UPHENO:0080351",
+ "UPHENO:0081424",
+ "UBERON:0002204",
+ "HP:0001876",
"GO:0008152",
- "UPHENO:9002003",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
+ "UBERON:0002417",
+ "HP:0025354",
+ "HP:0003220",
+ "HP:0200007",
+ "HP:0002860",
+ "UPHENO:0002352",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0009020",
+ "GO:0009987",
+ "UPHENO:0081313",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "UBERON:0003607",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UPHENO:0002812",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "UBERON:0008907",
+ "UPHENO:0080114",
+ "HP:0000957",
+ "GO:0048523",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UBERON:0005177",
+ "UBERON:0001008",
+ "HP:0002060",
+ "HP:0100542",
+ "UBERON:0000489",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0003088",
+ "UBERON:0000383",
+ "UPHENO:0087427",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UBERON:0010741",
+ "GO:0065007",
+ "UPHENO:0076800",
+ "HP:0010935",
+ "UPHENO:0011536",
+ "HP:0031704",
+ "UPHENO:0075902",
+ "HP:0012210",
+ "UPHENO:0002642",
"UPHENO:0003065",
+ "UPHENO:0041821",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "UBERON:0035639",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UPHENO:0046487",
+ "UPHENO:0086635",
+ "UPHENO:0046755",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003410",
"UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0002530",
+ "UPHENO:0049699",
+ "UPHENO:0075198",
+ "UBERON:0005156",
+ "UBERON:0000970",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UBERON:0034921",
+ "UPHENO:0069562",
+ "UPHENO:0001001",
+ "HP:0000492",
+ "HP:0012745",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "UBERON:0006983",
+ "UBERON:0004088",
+ "UPHENO:0050008",
+ "UBERON:0001711",
+ "UPHENO:0026506",
+ "UBERON:0004710",
"HP:0002984",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0008548",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "HP:0009115",
- "UBERON:0000465",
- "UPHENO:0072359",
- "UPHENO:0002927",
- "UBERON:0002204",
- "UPHENO:0027017",
- "HP:0100547",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0005433",
+ "UBERON:0001819",
+ "UBERON:0000019",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UPHENO:0003085",
+ "UPHENO:0075878",
+ "UPHENO:0052231",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "UPHENO:0002643",
+ "UPHENO:0009382",
+ "GO:0003008",
+ "UPHENO:0080010",
+ "HP:0001034",
+ "UPHENO:0005092",
+ "UPHENO:0002635",
+ "UPHENO:0076739",
"UPHENO:0053643",
- "HP:0002664",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UBERON:0001008",
- "HP:0000077",
- "HP:0011121",
- "UPHENO:0003410",
- "UPHENO:0069327",
- "UPHENO:0025776",
- "UPHENO:0004521",
- "UPHENO:0002656",
- "UPHENO:0069125",
- "UBERON:0001245",
- "HP:0045060",
- "UBERON:0001434",
- "UBERON:0015212",
- "UBERON:0004381",
- "UBERON:0005173",
- "CL:0001035",
- "UPHENO:0015324",
- "UPHENO:0046750",
- "HP:0000271",
- "HP:0040068",
- "UPHENO:0002659",
- "HP:0002973",
- "CL:0011115",
- "UBERON:0000383",
+ "UPHENO:0003811",
+ "UPHENO:0074575",
+ "CL:0000232",
"GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "UPHENO:0012308",
- "UBERON:0001062",
- "UPHENO:0002525",
+ "UPHENO:0004064",
+ "UPHENO:0002751",
+ "UPHENO:0069254",
+ "HP:0011355",
+ "CL:0000081",
+ "UBERON:0002416",
+ "HP:0000953",
+ "UPHENO:0041226",
+ "UPHENO:0046396",
+ "UPHENO:0074584",
+ "UPHENO:0002632",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "UPHENO:0002940",
+ "UBERON:0001032",
+ "UPHENO:0002559",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UPHENO:0001360",
+ "UPHENO:0050065",
+ "HP:0001167",
+ "BFO:0000141",
+ "UBERON:0000466",
+ "HP:0000002",
+ "UPHENO:0002907",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "UPHENO:0087430",
+ "HP:0000436",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UPHENO:0002945",
+ "UBERON:0002268",
+ "UPHENO:0084727",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0001303",
+ "UBERON:0004768",
+ "HP:0000118",
"UPHENO:0075195",
- "UPHENO:0004523",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "UPHENO:0088168",
+ "UBERON:0012128",
+ "UPHENO:0002903",
+ "UPHENO:0001025",
+ "HP:0010938",
+ "UPHENO:0005106",
+ "UPHENO:0001912",
+ "UPHENO:0001135",
+ "UPHENO:0081204",
+ "UBERON:0034929",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0049587",
+ "UPHENO:0003001",
+ "UPHENO:0002597",
+ "UPHENO:0002727",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UPHENO:0002844",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UBERON:0002405",
+ "UPHENO:0002722",
+ "HP:0001507",
"UPHENO:0046455",
- "HP:0006501",
- "HP:0000925",
- "UBERON:0010740",
- "UPHENO:0008825",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0046538",
- "UPHENO:0002593",
- "UPHENO:0086956",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "UBERON:0001423",
- "UBERON:0002101",
- "UPHENO:0002866",
- "HP:0011793",
- "UBERON:0011137",
- "UBERON:0004535",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "GO:0008150",
- "UPHENO:0076703",
- "UBERON:0003103",
+ "UPHENO:0052165",
+ "UPHENO:0069292",
+ "CL:0000151",
"UPHENO:0084448",
- "UBERON:0002470",
- "UPHENO:0046479",
- "UPHENO:0080079",
- "HP:0005120",
- "UPHENO:0046445",
- "UPHENO:0046552",
- "UPHENO:0068912",
+ "UPHENO:0076803",
+ "UPHENO:0046594",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0080325",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0001279",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UBERON:0006717",
"UBERON:0015061",
- "CL:0011026",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0069684",
+ "UBERON:0002398",
+ "HP:0000951",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "UBERON:0000990",
+ "UPHENO:0081566",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0002389",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UPHENO:0004476",
"UPHENO:0002650",
- "UBERON:0010741",
- "UPHENO:0072263",
- "UBERON:0011582",
+ "HP:0001155",
+ "UPHENO:0002837",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0046392",
+ "UPHENO:0002651",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0002736",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "UPHENO:0041075",
+ "UBERON:0011143",
"UBERON:5002544",
- "UBERON:0004151",
- "UPHENO:0075944",
- "UPHENO:0086644",
- "GO:0010468",
- "UBERON:0010758",
- "UPHENO:0050063",
- "UPHENO:0003074",
+ "UPHENO:0002905",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0003095",
+ "UPHENO:0068971",
+ "UPHENO:0002782",
+ "HP:0040068",
+ "UBERON:0000020",
+ "UBERON:0002097",
+ "HP:0040064",
+ "UPHENO:0002005",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0012354",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0002962",
+ "UBERON:0002513",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "HP:0000364",
+ "RO:0002577",
+ "UBERON:0010740",
+ "GO:0009890",
+ "UPHENO:0046741",
+ "UPHENO:0046445",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UPHENO:0081423",
+ "UBERON:0010538",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "UPHENO:0069125",
+ "CL:0000000",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UBERON:0001423",
+ "UBERON:0007914",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UBERON:0007272",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0068914",
+ "HP:0000365",
"UPHENO:0087472",
- "UPHENO:0002568",
- "UBERON:0034925",
- "HP:0002011",
- "HP:0001909",
- "UBERON:0008962",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0033560",
- "UBERON:0007100",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UBERON:0008785",
- "UPHENO:0041465",
+ "UBERON:0007811",
+ "HP:0045060",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UBERON:0010758",
+ "UPHENO:0075997",
"HP:0000315",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0012141",
- "UPHENO:0003049",
- "UPHENO:0003020",
+ "UPHENO:0002944",
+ "HP:0000366",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0011297",
+ "UBERON:0034923",
+ "UBERON:0004742",
+ "UPHENO:0002733",
+ "HP:0008050",
"UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0015281",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "UPHENO:0002536",
- "UPHENO:0076727",
- "UPHENO:0002554",
- "UPHENO:0054970",
+ "UBERON:0015212",
+ "HP:0006496",
+ "HP:0005927",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "UBERON:0003606",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UBERON:5002389",
+ "UPHENO:0012440",
+ "UPHENO:0002586",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0046483",
+ "UBERON:0000153",
+ "UPHENO:0069163",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0001000",
+ "CL:0000763",
+ "UPHENO:0068921",
+ "UBERON:0000025",
+ "UPHENO:0004909",
+ "UPHENO:0002600",
+ "UPHENO:0002761",
+ "UPHENO:0088186",
+ "UBERON:0013765",
+ "UPHENO:0003056",
+ "UPHENO:0080087",
+ "UPHENO:0002942",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "UPHENO:0086595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UBERON:0012139",
+ "UBERON:0003462",
+ "HP:0000152",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "HP:0040070",
+ "UPHENO:0003025",
+ "UPHENO:0005518",
+ "UBERON:0001444",
+ "UPHENO:0069194",
+ "UBERON:0002104",
+ "UBERON:0004288",
"UBERON:0001440",
- "HP:0011844",
- "UBERON:0001032",
- "HP:0025354",
- "UPHENO:0002750",
- "UPHENO:0046540",
- "UPHENO:0003004",
- "UBERON:0002081",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "UPHENO:0068932",
- "UBERON:0004456",
- "UBERON:0003607",
- "UPHENO:0063596",
- "UPHENO:0009020",
- "UPHENO:0081581",
- "UBERON:0002471",
- "HP:0100542",
"UPHENO:0053612",
- "UBERON:0010703",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0003815",
- "UBERON:0004765",
- "RO:0002577",
+ "UPHENO:0002963",
+ "HP:0000028",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
"UPHENO:0002746",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "HP:0025031",
- "HP:0002667",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0006496",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0069047",
- "BFO:0000040",
- "UPHENO:0086633",
- "UPHENO:0072355",
- "UPHENO:0011825",
- "UPHENO:0068838",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0069161",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
+ "UPHENO:0011498",
+ "UPHENO:0076761",
+ "HP:0005922",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0002553",
+ "UBERON:0011676",
+ "UPHENO:0002554",
+ "UPHENO:0069328",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UBERON:0000467",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UPHENO:0002910",
+ "UPHENO:0002928",
+ "UPHENO:0084715",
+ "UPHENO:0046411",
+ "UBERON:0011158",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0005881",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "UPHENO:0002682",
+ "UBERON:0012475",
+ "UBERON:0011137",
+ "UPHENO:0002828",
+ "UBERON:0002495",
+ "UBERON:0001555",
+ "UBERON:0010000",
+ "UPHENO:0086956",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0001134",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "HP:0009115",
+ "UBERON:0013702",
"UPHENO:0087349",
- "UPHENO:0074227",
- "UPHENO:0001001",
- "UBERON:0002386",
- "UPHENO:0001584",
- "UPHENO:0003812",
- "UPHENO:0011817",
- "GO:0050794",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "HP:0009601",
- "UPHENO:3000004",
- "HP:0001671",
- "UPHENO:0086700",
- "HP:0000492",
- "HP:0002817",
+ "UPHENO:0025587",
+ "UPHENO:0001217",
+ "HP:0011821",
+ "UBERON:0000004",
+ "HP:0000924",
+ "UPHENO:0052160",
+ "HP:0000929",
+ "UBERON:0010314",
+ "HP:0006265",
+ "UBERON:0013701",
+ "UPHENO:0018390",
"UPHENO:0003799",
- "UBERON:0004121",
- "HP:0100006",
- "UPHENO:0087501",
- "UPHENO:0002945",
- "UPHENO:0046392",
- "UPHENO:0002861",
- "UBERON:0011584",
- "HP:0005561",
- "UBERON:0004120",
- "UBERON:0000026",
- "UPHENO:0076718",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0003095",
+ "UPHENO:0002838",
+ "CL:0000458",
+ "UPHENO:0000543",
+ "CL:0000255",
+ "UBERON:0000473",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UPHENO:0002772",
+ "UPHENO:0084457",
+ "UBERON:0002113",
+ "UBERON:0011156",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0002764",
+ "GO:0010629",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UBERON:0002514",
+ "UPHENO:0002818",
+ "HP:0005105",
+ "UPHENO:0002694",
+ "UPHENO:0081091",
+ "UPHENO:0076703",
+ "CL:0000219",
+ "UPHENO:0068932",
+ "UPHENO:0004802",
+ "UPHENO:0087924",
+ "UBERON:0007842",
+ "HP:0002977",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "UPHENO:0005008",
+ "UPHENO:0088162",
+ "UPHENO:0002550",
+ "NCBITaxon:6072",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0000347",
+ "HP:0011927",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UPHENO:0002593",
+ "HP:0006501",
+ "HP:0001045",
+ "UPHENO:0005097",
+ "HP:0009116",
+ "UPHENO:0002526",
+ "UBERON:0011595",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "HP:0000234",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0006058",
+ "HP:0000085",
+ "UPHENO:0054957",
+ "HP:0012145",
+ "BFO:0000003",
+ "UBERON:0010313",
+ "UBERON:0001434",
+ "UPHENO:0002548",
+ "UPHENO:0069119",
+ "HP:0030791",
+ "UPHENO:0083646",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UBERON:0010708",
+ "UBERON:0000061",
+ "CL:0000233",
+ "HP:0040012",
+ "UPHENO:0003432",
+ "UPHENO:0025509",
+ "GO:0050877",
+ "HP:0001903",
+ "UBERON:0000475",
+ "UBERON:0002371",
+ "UPHENO:0005517",
+ "UPHENO:0005104",
+ "UBERON:0011216",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0012360",
+ "UPHENO:0002531",
+ "HP:0009601",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002880",
+ "UBERON:0003457",
+ "UPHENO:0004625",
+ "UPHENO:0002926",
+ "UPHENO:0003069",
+ "UPHENO:0076727",
+ "UBERON:0008962",
+ "HP:0030669",
+ "UPHENO:0002668",
+ "UBERON:0001708",
"UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0007272",
- "CL:0000151",
- "HP:0009778",
- "UBERON:0010712",
- "UBERON:0000061",
- "UPHENO:0069163",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0000467",
- "UPHENO:0033559",
- "HP:0008678",
"UBERON:0015021",
- "HP:0003026",
- "UBERON:0003466",
- "UPHENO:0069292",
- "CL:0000839",
- "UPHENO:0069064",
+ "UPHENO:0002525",
+ "GO:0010605",
+ "CL:0002092",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "HP:0011121",
"UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UPHENO:0086854",
- "UPHENO:0054374",
- "UPHENO:0082794",
- "UPHENO:0002594",
+ "UPHENO:0086633",
+ "UPHENO:0002861",
+ "HP:0000001",
+ "HP:0001172",
+ "UBERON:0002390",
+ "CL:0000457",
+ "UPHENO:0002754",
+ "UPHENO:0075890",
+ "UBERON:0007827",
+ "UPHENO:0002909",
+ "UPHENO:0087950",
+ "HP:0000252",
+ "UBERON:0004456",
+ "UPHENO:0002595",
+ "HP:0040195",
"HP:0009815",
- "HP:0007400",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:0001369",
- "HP:0009824",
- "HP:0000929",
- "UBERON:0004288",
+ "UBERON:0000468",
+ "UBERON:0001684",
+ "BFO:0000004",
+ "HP:0009122",
+ "UBERON:0002193",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0025585",
+ "CL:0000225",
+ "UPHENO:0003227",
+ "UPHENO:0053566",
+ "BFO:0000002",
+ "UPHENO:0052159",
+ "UPHENO:0005214",
+ "UPHENO:0076692",
+ "UPHENO:0053647",
+ "HP:0009381",
+ "UPHENO:0002536",
+ "UPHENO:0050063",
+ "UBERON:0001062",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "UBERON:0004375",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0012308",
+ "UPHENO:0002648",
+ "UBERON:0000033",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0046471",
+ "UPHENO:0002988",
+ "UPHENO:0080352",
+ "HP:0005561",
+ "UPHENO:0005512",
+ "UBERON:0001474",
+ ],
+ "has_phenotype_closure_label": [
+ "autopodial extension phenotype",
+ "Neoplasm by anatomical site",
+ "neoplasm phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent anatomical entity in the forelimb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "jaw region",
+ "Finger aplasia",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "absent multicellular anatomical structure",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "localised trunk region element",
+ "aplasia or hypoplasia of anatomical entity",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "localised abdomen element",
+ "reproductive organ",
+ "localised anatomical entity",
+ "localised male reproductive organ",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "reproductive system phenotype",
+ "localised testis",
+ "external genitalia phenotype",
+ "Abnormal reproductive system morphology",
+ "localised anatomical structure",
+ "Abnormal external genitalia",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "Abnormality of the male genitalia",
+ "aplasia or hypoplasia of radius bone",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "long bone morphology phenotype",
+ "jaw skeleton",
+ "decreased size of the endochondral element",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "zeugopod",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "limb long bone morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "male reproductive system",
+ "decreased size of the arm bone",
+ "anatomical conduit",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "decreased length of arm bone",
+ "regulation of metabolic process",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "Forearm undergrowth",
+ "decreased length of anatomical entity",
+ "radius bone hypoplasia",
+ "decreased length of long bone",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "forelimb zeugopod",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "decreased length of bone of pectoral complex",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "zeugopod phenotype",
+ "forelimb bone phenotype",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
+ "decreased size of the organ",
+ "radius bone",
+ "arm bone phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Pelvic kidney",
+ "upper urinary tract",
+ "male organism",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral morphology",
+ "decreased length of forelimb bone",
+ "forebrain",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "Abnormality of skull size",
+ "Eumetazoa",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "telencephalon morphology phenotype",
+ "localised multicellular anatomical structure",
+ "Abnormal cellular phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "regional part of nervous system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "digit phenotype",
+ "system process phenotype",
+ "Growth abnormality",
+ "decreased qualitatively nervous system process",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Hearing abnormality",
+ "nervous system process",
+ "nervous system process phenotype",
+ "testis phenotype",
+ "multicellular organismal process phenotype",
+ "multicellular anatomical structure",
+ "sense organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "main body axis",
+ "sensory perception of sound",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "digit",
+ "increased size of the anatomical structure",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "size of skull phenotype",
+ "primary subdivision of skull",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "ear",
+ "decreased qualitatively system process",
+ "gonad phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "radius bone phenotype",
+ "primary subdivision of skull phenotype",
+ "regional part of nervous system",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "sensory perception of sound phenotype",
+ "ear phenotype",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "skeleton",
+ "Short stature",
+ "subdivision of skeletal system",
+ "Abnormality of body height",
+ "neural crest-derived structure",
+ "anatomical point phenotype",
+ "decreased height of the multicellular organism",
+ "localised lateral structure",
+ "absent material anatomical entity in the limb",
+ "multicellular organism height phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "negative regulation of cellular process phenotype",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process",
+ "decreased length of limb bone",
+ "negative regulation of biological process",
+ "anucleate cell",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal testis morphology",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "localised reproductive structure",
+ "homeostatic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "eyelid",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "decreased length of mesoderm-derived structure",
+ "trunk phenotype",
+ "dermal skeleton",
+ "limb long bone",
+ "decreased length of digit 1 or 5",
+ "Abnormality of the upper urinary tract",
+ "Microcephaly",
+ "biological_process",
+ "Abnormality of the kidney",
+ "increased pigmentation",
+ "sensory perception phenotype",
+ "abdominal segment of trunk",
+ "genitourinary system",
+ "3-D shape anatomical entity",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "male organism phenotype",
+ "Chromosome breakage",
+ "genitourinary system phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "subdivision of trunk",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal renal morphology",
+ "renal system",
+ "renal system morphology phenotype",
+ "decreased length of manual digit",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "decreased system process",
+ "bone of jaw",
+ "abdominal segment element",
+ "compound organ phenotype",
+ "trunk region element phenotype",
+ "abdomen element phenotype",
+ "decreased length of ectoderm-derived structure",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "orifice phenotype",
+ "central nervous system morphology phenotype",
+ "ocular adnexa phenotype",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "Abnormality of the orbital region",
+ "camera-type eye",
+ "eyelid phenotype",
+ "decreased sensory perception of sound",
+ "multi organ part structure phenotype",
+ "decreased length of orifice",
+ "Ectopic kidney",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "decreased length of palpebral fissure",
+ "forelimb skeleton phenotype",
+ "eye",
+ "decreased biological_process",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "immaterial anatomical entity",
+ "decreased size of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "growth",
+ "external nose phenotype",
+ "reproductive structure phenotype",
+ "skeletal element",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "Abnormal size of the palpebral fissures",
+ "localised compound organ",
+ "arm bone",
+ "Abnormal ocular adnexa morphology",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "decreased size of the orifice",
+ "Anemia",
+ "erythroid lineage cell morphology phenotype",
+ "absent autopodial extension",
+ "decreased length of digit 1",
+ "erythrocyte morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "Abnormal long bone morphology",
+ "increased biological_process in skin of body",
+ "Metazoa",
+ "Blepharophimosis",
+ "increased qualitatively biological_process",
+ "nervous system",
+ "Abnormality of the skin",
+ "localised cavitated compound organ",
+ "Cafe-au-lait spot",
+ "decreased size of the mesoderm-derived structure",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "absent anatomical structure in the forelimb",
+ "pigmentation phenotype",
+ "biological_process rate phenotype",
+ "sensory system",
+ "decreased length of manual digit 1",
+ "orifice",
+ "Abnormality of the face",
+ "increased size of the sense organ",
+ "Abnormal erythrocyte morphology",
+ "external nose morphology phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Bulbous nose",
+ "bone of craniocervical region",
+ "increased size of the olfactory organ",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "increased size of the organ",
+ "increased volume of anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "anatomical point",
+ "head phenotype",
+ "absent material anatomical entity in the forelimb",
+ "cellular organisms",
+ "nose phenotype",
+ "increased size of the nose",
+ "Micrognathia",
+ "renal system phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "increased size of the organism subdivision",
+ "phenotypic effect",
+ "entire sense organ system",
+ "negative regulation of biosynthetic process",
+ "nose",
+ "decreased size of the limb bone",
+ "limb bone phenotype",
+ "olfactory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal nasal tip morphology",
+ "external soft tissue zone",
+ "organ phenotype",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "pectoral appendage skeleton phenotype",
+ "manual digit phenotype",
+ "sense organ",
+ "arm",
+ "Abnormal limb bone morphology",
+ "decreased length of skeletal element",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "increased volume of nose",
+ "brain phenotype",
+ "biological_process phenotype",
+ "decreased size of the forelimb bone",
+ "process",
+ "segment of manus",
+ "Vitiligo",
+ "Growth delay",
+ "Neoplasm",
+ "delayed biological_process",
+ "decreased size of the limb endochondral element",
+ "membrane bone phenotype",
+ "decreased length of anatomical conduit",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "telencephalon phenotype",
+ "digit 1 or 5",
+ "subdivision of organism along appendicular axis",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal localization of kidney",
+ "Aplasia/hypoplasia of the extremities",
+ "oxygen accumulating cell",
+ "bone of appendage girdle complex phenotype",
+ "multi-tissue structure",
+ "tube phenotype",
+ "forelimb skeleton",
+ "segment of autopod",
+ "Abnormal nasal morphology",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "nose tip",
+ "Abnormal external nose morphology",
+ "manual digit plus metapodial segment",
+ "root",
+ "endochondral element",
+ "decreased size of the manual digit",
+ "manual digit morphology in the manus phenotype",
+ "limb morphology phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "Abnormality of the hand",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "Horseshoe kidney",
+ "Abnormality of skin pigmentation",
+ "decreased length of bone of free limb or fin",
+ "nose morphology phenotype",
+ "decreased qualitatively sensory perception",
+ "appendicular skeleton phenotype",
+ "autopodial skeleton",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "nose tip morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "decreased length of autopodial extension",
+ "skin of body",
+ "manus",
+ "All",
+ "skeleton of manus",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "Abnormality of the ocular adnexa",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
+ "decreased length of multicellular anatomical structure",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "mesoderm-derived structure phenotype",
+ "bone of jaw phenotype",
+ "reproductive system",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "paired limb/fin skeleton phenotype",
+ "Abnormality of the nose",
+ "absent manual digit",
+ "facial bone phenotype",
+ "manual digitopodium region",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "organism subdivision phenotype",
+ "dermatocranium phenotype",
+ "appendage",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "U-shaped anatomical entity",
+ "upper limb segment phenotype",
+ "shape anatomical entity",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "external nose",
+ "appendage phenotype",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "Abnormal finger morphology",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "limb phenotype",
+ "Short finger",
+ "sensory perception",
+ "acropodium region",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "regulation of gene expression",
+ "pigmentation",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "skeleton of limb",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb phenotype",
+ "Abnormality of chromosome stability",
+ "Abnormality of the palpebral fissures",
+ "immaterial anatomical entity phenotype",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "regulation of biological process",
+ "motile cell",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "ectoderm-derived structure phenotype",
+ "sensory system phenotype",
+ "decreased size of the long bone",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "external genitalia",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "reproductive structure",
+ "subdivision of head",
+ "size of anatomical entity phenotype",
+ "cranial skeletal system phenotype",
+ "decreased size of the anatomical conduit",
+ "facial bone hypoplasia",
+ "bone of pectoral complex morphology phenotype",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "Hypoplasia of the radius",
+ "localised gonad",
+ "bone of lower jaw",
+ "tissue",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "face",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "palpebral fissure phenotype",
+ "postcranial axial skeleton",
+ "limb bone",
+ "dermal bone phenotype",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "U-shaped kidney",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "neural crest-derived structure phenotype",
+ "dermal skeletal element",
+ "bone cell",
+ "anatomical entity length phenotype",
+ "trunk",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "craniofacial/craniocervical phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "decreased length of endochondral bone",
+ "decreased size of the anatomical structure",
+ "taxon specific phenotype",
+ "skull",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "dentary",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Neoplasm of the skin",
+ "skeletal system phenotype",
+ "subdivision of skeletal system phenotype",
+ "skeleton of lower jaw",
+ "paired limb/fin",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "growth phenotype",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "head",
+ "anatomical system",
+ "bone marrow",
+ "digitopodium region",
+ "localised material anatomical entity",
+ "mandible hypoplasia",
+ "Abnormality of the genitourinary system",
+ "anatomical conduit phenotype",
+ "facial skeleton",
+ "anatomical entity hypoplasia in face",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "long bone",
+ "localised reproductive organ",
+ "head bone",
+ "skull morphology phenotype",
+ "entity",
+ "eye phenotype",
+ "postcranial axial skeletal system",
+ "Abnormal axial skeleton morphology",
+ "bone marrow cell",
+ "digestive tract",
+ "immaterial entity",
+ "Abnormal male external genitalia morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "head morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "musculature",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "bone element hypoplasia in face",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "visual system",
+ "forelimb zeugopod morphology phenotype",
+ "anatomical entity height phenotype",
+ "subdivision of digestive tract phenotype",
+ "integumental system phenotype",
+ "ocular adnexa",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "limb long bone phenotype",
+ "lower jaw region",
+ "excretory system",
+ "regulation of macromolecule metabolic process phenotype",
+ "dermatocranium",
+ "digestive system element",
+ "organ part",
+ "Abnormal mandible morphology",
+ "platelet",
+ "dermal skeletal element phenotype",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity",
+ "jaw skeleton morphology phenotype",
+ "external male genitalia phenotype",
+ "forelimb long bone",
+ "Short thumb",
+ "Abnormality of the ear",
+ "pectoral appendage",
+ "membrane bone",
+ "primary subdivision of cranial skeletal system phenotype",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "mandible morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "musculoskeletal system phenotype",
+ "skull phenotype",
+ "absent anatomical entity",
+ "cell",
+ "ear physiology phenotype",
+ "mandible",
+ "manual digit",
+ "Squamous cell carcinoma",
+ "Cryptorchidism",
+ "limb endochondral element",
+ "shape kidney",
+ "aplasia or hypoplasia of skeleton",
+ "tube",
+ "Abnormality of blood and blood-forming tissues",
+ "radius bone morphology phenotype",
+ "face phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure",
+ "facial skeleton morphology phenotype",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "nucleate cell",
+ "anatomical entity hypoplasia",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "forelimb zeugopod bone phenotype",
+ "kidney",
+ "Aplasia/Hypoplasia of the mandible",
+ "Abnormal nervous system morphology",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "visual system phenotype",
+ "aplasia or hypoplasia of mandible",
+ "digit plus metapodial segment",
+ "immune system",
+ "anatomical entity phenotype",
+ "endochondral element phenotype",
+ "dentary phenotype",
+ "decreased size of the bone of free limb or fin",
+ "olfactory organ phenotype",
+ "Abnormal brain morphology",
+ "autopod region",
+ "increased pigmentation in skin of body",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "increased size of the material anatomical entity",
+ "craniocervical region phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "dermal bone",
+ "erythroid lineage cell",
+ "head bone morphology phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "anatomical structure",
+ "sense organ phenotype",
+ "bone element",
+ "mesoderm-derived structure",
+ "facial bone",
+ "anatomical system phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "testis",
+ "absent material anatomical entity in the multicellular organism",
+ "hemolymphoid system",
+ "erythrocyte",
+ "Upper limb undergrowth",
+ "hematopoietic cell",
+ "musculoskeletal system",
+ "paired limb/fin segment",
+ "musculature phenotype",
+ "regulation of cellular process phenotype",
+ "blood cell",
+ "myeloid cell",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "absent material anatomical entity",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "material entity",
+ "regional part of brain phenotype",
+ "organ",
+ "anatomical entity",
+ "craniocervical region morphology phenotype",
+ "continuant",
+ "secretory cell",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "leukocyte",
+ "concave 3-D shape anatomical entity",
+ "intramembranous bone",
+ "vestibulo-auditory system phenotype",
+ "appendicular skeletal system",
+ "phenotype",
+ ],
+ },
+ {
+ "id": "MONDO:0024525",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 1",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "synonym": [
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001942",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0003155",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083",
+ ],
+ "has_phenotype_label": [
+ "Metabolic acidosis",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency",
+ ],
+ "has_phenotype_count": 16,
+ "has_phenotype_closure": [
+ "HP:0000083",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "CHEBI:35605",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "CHEBI:33608",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UPHENO:0046286",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:18133",
+ "CHEBI:35381",
+ "CHEBI:16646",
+ "CHEBI:78616",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "HP:0000924",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0004765",
+ "UPHENO:0002559",
"UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0002371",
- "HP:0001627",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
+ "CHEBI:33839",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
"UPHENO:0003432",
- "UBERON:0012354",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UBERON:0011249",
- "UBERON:0000014",
- "PATO:0000001",
- "UPHENO:0046403",
- "UPHENO:0079876",
- "UBERON:0012475",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0002754",
- "UBERON:0000075",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0002413",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0072194",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "HP:0004375",
- "UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0046465",
- "UBERON:0003606",
- "HP:0001574",
+ "UPHENO:0081544",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
+ "HP:0032943",
+ "CHEBI:60911",
+ "HP:0003109",
+ "UPHENO:0051686",
+ "HP:0003110",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0051709",
+ "UPHENO:0068110",
+ "UBERON:0000025",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "UBERON:0001008",
+ "UPHENO:0000543",
+ "UPHENO:0003413",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
+ "UBERON:0005173",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "UPHENO:0002346",
+ "HP:0000079",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
"UPHENO:0049587",
- "OBI:0100026",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
+ "UBERON:0002100",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
+ "UPHENO:0000541",
+ "UPHENO:0002909",
+ "CHEBI:24833",
+ "UBERON:0004111",
+ "UPHENO:0084654",
+ "UPHENO:0066921",
+ "HP:0011042",
+ "HP:0032180",
+ "UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
+ "GO:0042592",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UPHENO:0004459",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
+ "UPHENO:0034351",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "CHEBI:36357",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
+ "UPHENO:0002832",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
+ "UBERON:0000174",
+ "UPHENO:0002386",
+ "UPHENO:0069327",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
"UPHENO:0002963",
- "HP:0003006",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "HP:0000464",
- "UPHENO:0069236",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UPHENO:0002934",
- "UPHENO:3000007",
- "UPHENO:0046460",
- "UPHENO:0069523",
- "HP:0002813",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
"BFO:0000002",
- "UPHENO:0077348",
- "GO:0040007",
- "BFO:0000001",
- "HP:0009726",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0046472",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0053588",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0003514",
- "UBERON:0010708",
- "UPHENO:0081091",
- "UBERON:0015001",
- "UPHENO:0009209",
- "HP:0002885",
- "UPHENO:0004831",
- "UPHENO:0041629",
- "HP:0001631",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0015308",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UBERON:0010314",
- "UBERON:0015228",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0086855",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
- "UPHENO:0033607",
- "UPHENO:0003086",
- "UPHENO:0075220",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
+ "UPHENO:0002949",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UBERON:0003103",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "UBERON:0000467",
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904",
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
+ "organic molecule",
+ "muscle organ",
+ "increased level of organic acid in urine",
+ "oxoacid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
+ "urine glucose level phenotype",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
+ "Abnormal urinary organic compound level",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
+ "polypeptide",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
+ "protein polypeptide chain",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
+ "Metabolic acidosis",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
+ "abdominal segment element phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
+ "decreased level of phosphate in blood",
+ "nephron epithelium phenotype",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "trunk",
+ "epithelial tube",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
+ "main body axis",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
+ "abdomen element",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "Acidosis",
+ "nephron epithelium",
+ "Abnormal blood phosphate concentration",
+ "renal system",
+ "phosphate",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "lateral structure",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
+ "Abnormality of the musculoskeletal system",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
+ "skeletal element",
+ "increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
+ "anatomical system physiology phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
+ "skeletal element phenotype",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "anatomical system",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "monoatomic entity",
+ "body proper",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "bodily fluid",
+ "phosphoric acid derivative",
+ "racemate",
+ "blood phosphate level phenotype",
+ "blood monoatomic ion level phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "haemolymphatic fluid",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
+ "biological_process phenotype",
+ "Elevated circulating alkaline phosphatase concentration",
+ "compound organ",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
+ "blood phenotype",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
+ "phenotype",
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity",
+ ],
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322",
+ "HP:0000252",
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature",
+ "Microcephaly",
+ ],
+ "has_phenotype_count": 8,
+ "has_phenotype_closure": [
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0004704",
+ "UPHENO:0002926",
+ "UPHENO:0004523",
+ "UPHENO:0076799",
+ "HP:0040195",
"UBERON:0011676",
- "UPHENO:0076739",
- "UPHENO:0010795",
- "HP:0005773",
- "UPHENO:0002733",
- "UBERON:0013701",
- "UBERON:0009569",
+ "UPHENO:0081566",
+ "HP:0100547",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "UBERON:0011138",
+ "UBERON:0000475",
+ "NCBITaxon:2759",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "HP:0000924",
+ "UPHENO:0076805",
+ "UBERON:0010314",
+ "UPHENO:0004521",
+ "UPHENO:0002844",
"UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "BFO:0000015",
- "UBERON:0002085",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0004827",
- "UBERON:0000064",
- "UPHENO:0033590",
- "UPHENO:0004507",
- "UPHENO:0076776",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076810",
- "HP:0011927",
- "UPHENO:0072332",
- "UPHENO:0087427",
- "HP:0006265",
- "UBERON:0005178",
- "UBERON:0003037",
- "UBERON:0001463",
- "CL:0000835",
- "HP:0001872",
- "UBERON:0002099",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0069684",
- "HP:0030060",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0004476",
- "CL:0000458",
- "UPHENO:0084761",
- "UBERON:0004451",
- "UPHENO:3000000",
- "CL:0008001",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "UPHENO:0069605",
- "UPHENO:0053561",
- "UPHENO:0003082",
- "UPHENO:0033572",
+ "UBERON:0000153",
"UPHENO:0087907",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0088166",
- "UBERON:0012477",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
+ "UBERON:0010912",
+ "UBERON:0001015",
+ "UBERON:0000075",
+ "UPHENO:0002764",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "UPHENO:0086589",
+ "UBERON:0002090",
+ "UPHENO:0003025",
+ "UBERON:0001893",
+ "UBERON:0000073",
+ "UPHENO:0002902",
+ "UBERON:0034925",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UPHENO:0076703",
+ "NCBITaxon:33154",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "UBERON:0004288",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UBERON:0000383",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0003432",
+ "UPHENO:0088162",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
+ "UPHENO:0088170",
+ "UBERON:0000955",
+ "CL:0000764",
+ "UBERON:0011137",
+ "UPHENO:0049743",
+ "UBERON:0002616",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0075159",
+ "HP:0040012",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "UBERON:0001890",
+ "GO:0065007",
+ "CHEBI:36963",
+ "UPHENO:0050025",
+ "HP:0001903",
+ "GO:0010605",
+ "HP:0000707",
+ "UPHENO:0049757",
+ "GO:0005623",
+ "UPHENO:0050065",
+ "CHEBI:36962",
+ "UPHENO:0050040",
+ "GO:0031326",
+ "UPHENO:0049775",
+ "UPHENO:0002526",
+ "GO:0031052",
+ "GO:0031049",
+ "GO:0010629",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:0002976",
+ "GO:0050794",
+ "HP:0001874",
+ "BFO:0000004",
+ "UPHENO:0078606",
+ "UPHENO:0049642",
+ "NCBITaxon:1",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "GO:0031323",
"GO:0048519",
- "UPHENO:0046411",
- "HP:0012733",
- "UBERON:0002544",
- "UPHENO:0010850",
- "UPHENO:0080114",
- "UBERON:0002389",
- "UPHENO:0009021",
- "HP:0011297",
- "UPHENO:0072293",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0002909",
- "UPHENO:0087307",
- "UBERON:0001712",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069674",
- "UPHENO:0053619",
- "UBERON:0002417",
- "HP:0010935",
- "UPHENO:0053632",
- "HP:0000470",
- "CL:0000988",
- "UBERON:0001474",
- "UPHENO:0004386",
- "UPHENO:0002803",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0046505",
- "UBERON:0002104",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0003093",
+ "HP:0000240",
+ "BFO:0000015",
+ "UPHENO:0048751",
+ "GO:0009890",
+ "NCBITaxon:33208",
+ "UPHENO:0089764",
+ "CHEBI:15841",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "HP:0002060",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UPHENO:0063794",
+ "CHEBI:33304",
+ "HP:0002011",
+ "HP:0011017",
+ "CHEBI:33302",
+ "HP:0000152",
+ "HP:0000252",
+ "GO:0042592",
+ "CHEBI:24431",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "CHEBI:16541",
+ "UPHENO:0076702",
+ "HP:0011873",
+ "UPHENO:0002532",
+ "UPHENO:0077391",
+ "UPHENO:0046378",
+ "PR:000003809",
+ "HP:0012443",
+ "HP:0003221",
+ "UPHENO:0089759",
+ "UBERON:0013701",
+ "UPHENO:0050435",
+ "HP:0045056",
+ "CHEBI:37622",
+ "UBERON:0000179",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "UPHENO:0086019",
+ "BFO:0000003",
+ "CL:0000232",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0086176",
+ "UPHENO:0048707",
+ "PR:000000001",
+ "UPHENO:0051612",
+ "CHEBI:33839",
+ "UBERON:0000062",
+ "HP:0032180",
+ "UBERON:0000178",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "UPHENO:0004505",
+ "UPHENO:0051804",
+ "CL:0001035",
+ "HP:0012145",
+ "CHEBI:32988",
+ "UPHENO:0085302",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "HP:0002977",
+ "GO:0009987",
+ "HP:0005561",
+ "UPHENO:0005092",
"HP:0000118",
- "UPHENO:0018390",
- "UPHENO:0025585",
- "UBERON:0002398",
- "UPHENO:0053601",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0007811",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0086589",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UBERON:0011143",
- "UBERON:0002113",
- "UPHENO:0050065",
- "UPHENO:0075655",
- "HP:0011794",
- "HP:0011792",
- "HP:0010786",
- "HP:0007379",
- "UPHENO:0008668",
- "HP:0002898",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:3000003",
- "UBERON:0006058",
- "UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "HP:0000079",
- "UPHENO:0081451",
+ "UPHENO:0076286",
+ "UBERON:0001474",
+ "CL:0000225",
+ "HP:0010876",
+ "UPHENO:0003004",
+ "UBERON:0000479",
+ "CHEBI:33582",
+ "PR:000018263",
+ "HP:0032251",
+ "HP:0011875",
+ "PR:000064867",
+ "UBERON:0013702",
+ "HP:0001872",
+ "UPHENO:0002963",
+ "CL:0000766",
+ "UPHENO:0002536",
"UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "CL:0000763",
- "UPHENO:0026640",
- "UPHENO:0041075",
- "UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0026643",
- "UPHENO:0004494",
- "HP:0000951",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0011994",
- "UBERON:0005177",
- "UBERON:0001444",
- "UBERON:0000970",
- "HP:0008056",
- "UBERON:0010230",
- "UPHENO:0005097",
- "HP:0000234",
- "UBERON:0000033",
- "UPHENO:0080209",
- "UPHENO:0087123",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0002693",
- "UPHENO:0004757",
- "UPHENO:0075219",
- "UBERON:0010363",
- "HP:0000568",
- "UPHENO:0002976",
- "UBERON:0004122",
- "CL:0002191",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0086863",
- "UPHENO:0002764",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001456",
- "HP:0012372",
- "HP:0000478",
- "UBERON:0000916",
- "UPHENO:0002844",
- "UPHENO:0001231",
- "UPHENO:0002928",
- "UBERON:0001555",
- "UBERON:0000020",
- "UBERON:0000047",
- "CL:0002092",
- "UBERON:0000019",
- "UPHENO:0087058",
"CL:0000000",
- "UBERON:0000948",
- "HP:0004377",
- "UPHENO:0082761",
- "HP:0009826",
- "HP:0002488",
- "HP:0004808",
+ "UPHENO:0001001",
+ "HP:0009121",
+ "UBERON:0002405",
+ "UPHENO:0085330",
+ "UBERON:0004120",
+ "UPHENO:0049904",
+ "HP:0001510",
+ "HP:0002715",
+ "UBERON:0000033",
+ "UPHENO:0002568",
+ "UPHENO:0011498",
+ "CHEBI:23367",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UPHENO:0004459",
+ "UPHENO:0063787",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "HP:0005528",
+ "UPHENO:0002948",
+ "UBERON:0001016",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "CHEBI:16670",
+ "CL:0000738",
"CL:0000219",
- "HP:0100887",
- "CL:0002242",
- "UPHENO:0011572",
+ "UPHENO:0085344",
+ "UBERON:0007811",
+ "HP:0033127",
+ "BFO:0000040",
+ "CL:0000763",
+ "UPHENO:0046284",
+ "UPHENO:0077418",
+ "HP:0001877",
+ "CL:0000775",
+ "UPHENO:0069062",
+ "CL:0000081",
+ "CL:0000151",
+ "GO:0010556",
+ "HP:0000929",
+ "UPHENO:0077348",
+ "HP:0001875",
+ "UBERON:0006314",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "UBERON:0002390",
+ "UPHENO:0088166",
+ "HP:0000234",
+ "UPHENO:0002530",
+ "UBERON:0001062",
+ "UPHENO:0077826",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0081547",
+ "UBERON:0002371",
+ "HP:0010974",
+ "UBERON:0000465",
+ "UPHENO:0000543",
"CL:0000255",
+ "UBERON:0005944",
+ "UPHENO:0077822",
+ "UPHENO:0001003",
+ "HP:0001871",
+ "HP:0032309",
+ "CL:0000458",
+ "UPHENO:0001002",
"UBERON:0002193",
- "UBERON:0002390",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0002948",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0077399",
+ "UPHENO:3000000",
+ "UBERON:0010000",
+ "CL:0000233",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "UBERON:0004121",
+ "UPHENO:0050784",
+ "UBERON:0015203",
+ "UPHENO:0080079",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "HP:0000001",
+ "UPHENO:0049868",
+ "UPHENO:0080200",
+ "GO:0019222",
+ "UPHENO:0085354",
+ "UPHENO:0004503",
+ "UBERON:0011216",
+ "CL:0002242",
+ "CL:0000988",
+ "PR:000050567",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0010987",
+ "HP:0006254",
+ "UPHENO:0002554",
+ "UPHENO:0011531",
+ "UPHENO:0085356",
+ "CHEBI:36357",
+ "NCBITaxon:131567",
"UBERON:0034923",
+ "UPHENO:0076692",
+ "CHEBI:35352",
+ "UBERON:0000467",
+ "CL:0000094",
"UPHENO:0086172",
- "HP:0001871",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002969",
- "HP:0001172",
- "HP:0002715",
- "UPHENO:0010808",
- "HP:0011314",
- "HP:0032251",
- "HP:0004323",
- "HP:0001518",
- "UBERON:0002091",
- "UPHENO:0054304",
- "GO:0031326",
- "BFO:0000003",
+ "CL:0000457",
+ "UPHENO:0051763",
+ "HP:0001873",
+ "GO:0048523",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "CL:0000329",
+ "HP:0011893",
+ "UBERON:0010323",
+ "UPHENO:0080010",
+ "HP:0001881",
+ "CHEBI:33256",
+ "UPHENO:0077373",
+ "CHEBI:51143",
+ "UBERON:0004765",
+ "UPHENO:0011536",
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
- "Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "Morphological central nervous system abnormality",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "central nervous system morphology phenotype",
+ "head",
+ "axial skeleton plus cranial skeleton",
+ "postcranial axial skeleton",
+ "musculoskeletal system phenotype",
+ "Abnormal cerebral morphology",
+ "musculature",
+ "subdivision of skeletal system",
+ "multi-tissue structure",
+ "Metazoa",
+ "structure with developmental contribution from neural crest",
+ "nervous system morphology phenotype",
"Abnormal skull morphology",
"size of skull phenotype",
+ "Opisthokonta",
+ "Abnormality of skull size",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "skeletal system morphology phenotype",
+ "organ phenotype",
+ "telencephalon phenotype",
+ "anatomical collection",
"root",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
+ "skull morphology phenotype",
+ "musculature of body phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "brain morphology phenotype",
+ "main body axis",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "ectoderm-derived structure phenotype",
+ "central nervous system",
+ "Abnormality of head or neck",
+ "cranial skeletal system",
+ "ectoderm-derived structure",
+ "musculature phenotype",
"telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "craniocervical region phenotype",
+ "body proper",
+ "craniocervical region",
+ "Eukaryota",
"Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
+ "Abnormality of the nervous system",
+ "head phenotype",
+ "Microcephaly",
+ "aplasia or hypoplasia of anatomical entity",
+ "organ system subdivision phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "decreased height of the multicellular organism",
+ "forebrain phenotype",
+ "decreased size of the anatomical structure",
+ "delayed biological_process",
+ "organism subdivision",
+ "growth phenotype",
+ "Abnormal nervous system morphology",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "musculature of body",
+ "negative regulation of cellular process phenotype",
+ "regional part of brain",
"negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
+ "head morphology phenotype",
"negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
+ "negative regulation of biological process",
+ "Chromosomal breakage induced by crosslinking agents",
"negative regulation of gene expression",
- "regional part of brain phenotype",
+ "nervous system",
"biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
+ "process",
+ "regulation of cellular process phenotype",
+ "leukocyte morphology phenotype",
+ "regulation of biological process",
+ "subdivision of skeletal system phenotype",
+ "regulation of cellular metabolic process phenotype",
"regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of gene expression",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "peptide",
+ "Abnormal cellular physiology",
+ "erythrocyte",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "organooxygen compound",
+ "organic molecular entity",
+ "negative regulation of metabolic process",
+ "role bodily fluid level phenotype",
+ "polypeptide",
+ "regulation of metabolic process",
+ "bodily fluid phenotype",
+ "role blood level phenotype",
+ "Growth delay",
+ "amino acid chain",
+ "skull",
+ "regulation of cellular biosynthetic process phenotype",
+ "anterior region of body",
+ "homeostatic process",
+ "erythroid lineage cell morphology phenotype",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "nervous system phenotype",
+ "brain phenotype",
+ "chemical entity",
+ "central nervous system phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "bodily fluid",
+ "protein-containing molecular entity",
+ "polyatomic entity",
+ "granulocyte",
+ "negative regulation of metabolic process phenotype",
+ "increased level of chemical entity",
+ "carbon group molecular entity",
+ "bone cell",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "metabolic process",
+ "material entity",
+ "Abnormal circulating protein concentration",
+ "organochalcogen compound",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal cellular immune system morphology",
+ "carboxamide",
+ "multicellular organism",
+ "oxygen molecular entity",
+ "Abnormal skeletal morphology",
+ "Abnormal circulating metabolite concentration",
+ "organism substance phenotype",
"axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
- "Chromosome breakage",
- "Abnormal platelet count",
+ "phenotypic effect",
+ "amide",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "nitrogen molecular entity level phenotype",
+ "skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "organism substance",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "pnictogen molecular entity",
+ "negative regulation of biosynthetic process",
+ "alpha-fetoprotein",
+ "Abnormality of metabolism/homeostasis",
+ "blood phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "blood organic amino compound level phenotype",
+ "organonitrogen compound",
+ "blood alpha-fetoprotein level phenotype",
+ "anatomical structure",
+ "blood oxygen molecular entity level phenotype",
+ "protein polypeptide chain",
+ "erythroid lineage cell",
+ "haemolymphatic fluid phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of metabolic process phenotype",
+ "bone marrow cell",
+ "heteroorganic entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "alpha-fetoprotein level phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "homeostatic process phenotype",
+ "bone element",
+ "musculoskeletal system",
"bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
+ "organ system subdivision",
"Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
- "blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
+ "immune system morphology phenotype",
+ "organ",
"tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
- "Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
"Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
+ "telencephalon",
+ "regulation of cellular process",
+ "platelet phenotype",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "immune system",
+ "anatomical entity morphology phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "obsolete protein-containing material entity",
+ "cellular process",
+ "Abnormal immune system morphology",
+ "decreased number of leukocyte",
+ "multi-tissue structure phenotype",
+ "decreased number of neutrophil",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "oxygen accumulating cell",
"Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
- "decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "decreased number of cell",
+ "biological_process phenotype",
+ "myeloid leukocyte",
+ "hemolymphoid system",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "haemolymphatic fluid",
+ "cranial skeletal system phenotype",
+ "size of anatomical entity phenotype",
+ "blood",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "platelet",
+ "Neutropenia",
+ "cell phenotype",
+ "neutrophil",
+ "continuant",
+ "Abnormality of thrombocytes",
+ "organism subdivision phenotype",
+ "All",
+ "blood protein polypeptide chain level phenotype",
+ "secretory cell",
+ "macromolecule",
+ "biogenic amine secreting cell",
+ "multicellular anatomical structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "forebrain morphology phenotype",
+ "number of cell phenotype",
+ "anucleate cell",
+ "Abnormality of neutrophils",
+ "cellular organisms",
+ "molecular entity",
+ "multicellular organism height phenotype",
+ "Abnormal myeloid leukocyte morphology",
+ "Abnormal neutrophil count",
+ "main group molecular entity",
+ "postcranial axial skeletal system",
+ "nitrogen molecular entity",
+ "Abnormal axial skeleton morphology",
+ "anatomical system",
+ "Abnormal leukocyte count",
+ "anatomical entity height phenotype",
+ "decreased number of anatomical entity",
+ "aplasia or hypoplasia of telencephalon",
+ "material anatomical entity",
+ "regulation of gene expression phenotype",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of anatomical structure",
+ "blood cell",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased number of platelet",
+ "anatomical entity",
"mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
+ "myeloid cell",
+ "skeletal system",
+ "decreased number of hematopoietic cell",
+ "Abnormal platelet count",
+ "blood chemical entity level phenotype",
+ "hematopoietic system",
+ "skeletal system phenotype",
"regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
- "subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
+ "Abnormal granulocyte morphology",
+ "hematopoietic cell",
+ "regional part of nervous system phenotype",
+ "number of anatomical enitites of type neutrophil phenotype",
"programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
+ "entity",
+ "motile cell",
+ "granulocyte morphology phenotype",
+ "Chromosome breakage",
+ "disconnected anatomical group",
+ "regulation of biological process phenotype",
+ "number of myeloid cell phenotype",
+ "non-connected functional system",
+ "regulation of macromolecule metabolic process",
+ "number of platelet phenotype",
+ "negative regulation of cellular process",
+ "primary amide",
+ "Abnormal bone marrow cell morphology",
+ "subdivision of organism along main body axis phenotype",
+ "myeloid leukocyte phenotype",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis",
"material anatomical entity phenotype",
- "paired limb/fin",
+ "Abnormal leukocyte morphology",
+ "neutrophil phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "eukaryotic cell",
+ "Thrombocytopenia",
+ "immune system phenotype",
+ "nucleate cell",
+ "Abnormal granulocyte count",
+ "protein",
+ "decreased number of granulocyte",
+ "size of multicellular organism phenotype",
+ "erythrocyte morphology phenotype",
+ "obsolete cell",
+ "decreased number of material anatomical entity",
+ "multicellular organism chemical entity level phenotype",
"cell",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
- "skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
- "skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "anatomical system",
- "forelimb endochondral element",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
- "central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "musculoskeletal system",
- "limb segment",
- "organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
- "nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
+ "phenotype",
+ "leukocyte",
+ "organic amino compound",
+ "taxon specific phenotype",
+ "Bone marrow hypocellularity",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "occurrent",
+ "increased level of alpha-fetoprotein",
+ "blood cell phenotype",
+ ],
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0111085", "GARD:16215", "MEDGEN:934618", "OMIM:617247", "UMLS:C4310651"],
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia",
+ ],
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0003974",
+ "HP:0002984",
+ "HP:0001510",
+ "HP:0001643",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835",
+ "HP:0000086",
+ "HP:0000252",
+ ],
+ "has_phenotype_label": [
+ "Absent radius",
+ "Hypoplasia of the radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Absent thumb",
+ "Chromosome breakage",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid",
+ "Ectopic kidney",
+ "Microcephaly",
+ ],
+ "has_phenotype_count": 11,
+ "has_phenotype_closure": [
+ "UPHENO:0004704",
+ "HP:0002977",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "HP:0040195",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0000929",
+ "HP:0000252",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0011137",
+ "NCBITaxon:33208",
+ "NCBITaxon:2759",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0002736",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0000955",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0005944",
+ "UBERON:0002090",
+ "UBERON:0000073",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UBERON:0004121",
+ "NCBITaxon:33154",
+ "UPHENO:0003004",
+ "UPHENO:0053643",
+ "UBERON:0001008",
+ "HP:0100542",
+ "UPHENO:0053601",
+ "UPHENO:0053580",
+ "UBERON:0000489",
+ "UBERON:0005173",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "HP:0000079",
+ "UPHENO:0003093",
+ "UBERON:0005172",
+ "HP:0012443",
+ "UPHENO:0053619",
+ "UPHENO:0053612",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "HP:0010935",
+ "HP:0000086",
+ "UPHENO:0002642",
+ "HP:0004231",
+ "UPHENO:0026144",
+ "UPHENO:0087496",
+ "UPHENO:0053588",
+ "UPHENO:0002858",
+ "UPHENO:0002619",
+ "UPHENO:0079870",
+ "UBERON:0000982",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UPHENO:0008744",
+ "UPHENO:0025811",
+ "UPHENO:0003010",
+ "UPHENO:0000543",
+ "UPHENO:0002973",
+ "UPHENO:0009335",
+ "UPHENO:0002961",
+ "UPHENO:0002723",
+ "UPHENO:0002673",
+ "UPHENO:0009330",
+ "UBERON:0010959",
+ "HP:0003019",
+ "HP:0006502",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0009288",
+ "UBERON:0004461",
+ "UBERON:0003656",
+ "UPHENO:0003094",
+ "UBERON:0015078",
+ "UPHENO:0002733",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0026045",
+ "UPHENO:0002835",
+ "HP:0001367",
+ "UPHENO:0002613",
+ "UPHENO:0004312",
+ "UBERON:0015023",
+ "UBERON:0010546",
+ "UPHENO:0084458",
+ "UPHENO:0081515",
+ "UPHENO:0050126",
+ "HP:0009823",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "UPHENO:0002638",
+ "HP:0003026",
+ "UPHENO:0002832",
+ "UBERON:0009880",
+ "HP:0009658",
+ "UPHENO:0033560",
+ "UPHENO:0002881",
+ "UPHENO:0002548",
+ "UPHENO:0026127",
+ "UPHENO:0075195",
+ "UPHENO:0026076",
+ "UPHENO:0025520",
+ "UPHENO:0009303",
+ "UBERON:0003645",
+ "UBERON:0004302",
+ "UBERON:0009877",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UPHENO:0046397",
+ "UBERON:0001480",
+ "UPHENO:0009363",
+ "UPHENO:0080160",
+ "GO:0050794",
+ "UPHENO:0009400",
+ "UPHENO:0027061",
+ "HP:0005914",
+ "UPHENO:0025230",
+ "UBERON:0014892",
+ "UPHENO:0080168",
+ "UPHENO:0026715",
+ "UBERON:0004249",
+ "UPHENO:0002845",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UPHENO:0026717",
+ "HP:0005918",
+ "UPHENO:0026330",
+ "UPHENO:0076702",
+ "HP:0009834",
+ "UBERON:0012151",
+ "UPHENO:0081455",
+ "HP:0009825",
+ "UPHENO:0025118",
+ "UBERON:0003821",
+ "UBERON:0015043",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0080164",
+ "UBERON:0013581",
+ "UPHENO:0002632",
+ "UPHENO:0081521",
+ "UPHENO:0003698",
+ "UPHENO:0009310",
+ "UPHENO:0084447",
+ "UPHENO:0002601",
+ "UBERON:0018254",
+ "UPHENO:0087369",
+ "UPHENO:0002759",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0005206",
+ "UPHENO:0081700",
+ "HP:0009767",
+ "UPHENO:0002910",
+ "HP:0000152",
+ "UPHENO:0003697",
+ "UBERON:0001577",
+ "UBERON:0003620",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0076710",
+ "UPHENO:0004492",
+ "UPHENO:0002905",
+ "UPHENO:0003081",
+ "HP:0000234",
+ "HP:0030680",
+ "UPHENO:0009338",
+ "UPHENO:0002928",
+ "HP:0010628",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0001191",
+ "GO:0065007",
+ "UPHENO:0025452",
+ "HP:0010827",
+ "UPHENO:0080173",
+ "HP:0011805",
+ "UPHENO:0002386",
+ "UBERON:0013700",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UBERON:0000010",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UPHENO:0078730",
+ "HP:0010242",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "UPHENO:0002612",
+ "HP:0030962",
+ "GO:0010468",
+ "HP:0006824",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "UPHENO:0002897",
+ "UPHENO:0003047",
+ "UPHENO:0002764",
+ "UBERON:0004473",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0068838",
+ "UBERON:0001456",
+ "UPHENO:0008668",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UPHENO:0002385",
+ "UPHENO:0002562",
+ "UBERON:0000033",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "UBERON:0015025",
+ "HP:0030319",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UPHENO:0002643",
+ "UPHENO:0025342",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0008743",
+ "UPHENO:0025456",
+ "UPHENO:0086172",
+ "UPHENO:0033602",
+ "GO:0060255",
+ "UPHENO:0003066",
+ "GO:0009892",
+ "UBERON:0002234",
+ "HP:0011017",
+ "UPHENO:0026756",
+ "UPHENO:0080083",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0002570",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "UPHENO:0009383",
+ "UPHENO:0049757",
+ "UBERON:0000465",
+ "HP:0000271",
+ "GO:0010629",
+ "UPHENO:0025103",
+ "UPHENO:0049904",
+ "UPHENO:0027058",
+ "GO:0019222",
+ "UPHENO:0026181",
+ "UPHENO:0026314",
+ "HP:0009659",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0007364",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "HP:0009601",
+ "UBERON:0001890",
+ "UPHENO:0046403",
+ "UBERON:0012141",
+ "UBERON:0001647",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "UPHENO:0002782",
+ "UPHENO:0069030",
+ "UPHENO:0002708",
+ "UBERON:0019221",
+ "HP:0010048",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UPHENO:0012274",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UPHENO:0087006",
+ "UBERON:0019231",
+ "UBERON:5102389",
+ "UBERON:5002544",
+ "UPHENO:0009382",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0005985",
+ "UBERON:0002398",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0025556",
+ "UPHENO:0076805",
+ "UPHENO:0009326",
+ "UBERON:0002513",
+ "UPHENO:0002908",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0011695",
+ "UBERON:5006048",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0000467",
+ "UPHENO:0026650",
+ "UPHENO:0009430",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001172",
+ "HP:0009777",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UBERON:0000055",
+ "UBERON:0003103",
+ "HP:0025015",
+ "UPHENO:0002704",
+ "UPHENO:0087309",
+ "GO:0009889",
+ "UPHENO:0084761",
+ "UPHENO:0002869",
+ "HP:0011603",
+ "UBERON:0018674",
+ "UPHENO:0005116",
+ "UBERON:0001637",
+ "UBERON:0005440",
+ "UBERON:0034923",
+ "UPHENO:0076810",
+ "UPHENO:0001002",
+ "UPHENO:0002898",
+ "HP:0002597",
+ "UPHENO:0003031",
+ "UBERON:0003607",
+ "UBERON:0012357",
+ "UPHENO:0002954",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "UPHENO:0018390",
+ "UPHENO:0033603",
+ "UPHENO:0002640",
+ "UPHENO:0002576",
+ "UPHENO:0002754",
+ "UPHENO:0033593",
+ "UPHENO:0026806",
+ "UPHENO:0026073",
+ "UPHENO:0068921",
+ "UPHENO:0015277",
+ "UBERON:0010740",
+ "UPHENO:0033573",
+ "UPHENO:0080126",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UBERON:0014395",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "UBERON:0013702",
+ "UPHENO:0011533",
+ "UPHENO:0002950",
+ "UBERON:0017750",
+ "UPHENO:0025587",
+ "UBERON:0012150",
+ "UPHENO:0033590",
+ "UBERON:0010314",
+ "HP:0040070",
+ "UBERON:0002376",
+ "UPHENO:0003025",
+ "UPHENO:0002634",
+ "HP:0002818",
+ "UPHENO:0033580",
+ "UPHENO:0002696",
+ "UPHENO:0075655",
+ "UPHENO:0033568",
+ "UPHENO:0087186",
+ "UPHENO:0025651",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003084",
+ "UBERON:0004537",
+ "UPHENO:0002963",
+ "UBERON:0011779",
+ "UBERON:0003509",
+ "UPHENO:0002917",
+ "UPHENO:0002320",
+ "UBERON:0000075",
+ "UBERON:0013768",
+ "UPHENO:0025782",
+ "UBERON:0004535",
+ "UPHENO:0025547",
+ "UBERON:0003498",
+ "UPHENO:0046531",
+ "UPHENO:0003086",
+ "UPHENO:0026163",
+ "UBERON:0006048",
+ "UBERON:0007798",
+ "UPHENO:9002003",
+ "UPHENO:0086633",
+ "UPHENO:0033598",
+ "UPHENO:0033579",
+ "HP:0012210",
+ "HP:0011804",
+ "UBERON:0004573",
+ "UPHENO:0025593",
+ "UBERON:0004453",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0003019",
+ "UBERON:0009569",
+ "UBERON:0004288",
+ "UPHENO:0004507",
+ "UPHENO:0025166",
+ "UPHENO:0002738",
+ "UBERON:0015001",
+ "UPHENO:0003050",
+ "UBERON:0004111",
+ "UPHENO:0049587",
+ "UPHENO:0002938",
+ "UBERON:0000948",
+ "UPHENO:0002844",
+ "UPHENO:0087334",
+ "UPHENO:0000541",
+ "UPHENO:0004345",
+ "UPHENO:0049874",
+ "UBERON:0015024",
+ "UPHENO:0068932",
+ "UPHENO:0069328",
+ "UPHENO:0009291",
+ "HP:0009810",
+ "UPHENO:0046552",
+ "UPHENO:0009302",
+ "UPHENO:0009304",
+ "UPHENO:0026312",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0001507",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0002804",
+ "UPHENO:0069194",
+ "HP:0009824",
+ "NCBITaxon:131567",
+ "UPHENO:0002637",
+ "UPHENO:0026970",
+ "UBERON:0015061",
+ "UPHENO:0033584",
+ "HP:0003011",
+ "UPHENO:0025135",
+ "UPHENO:0068971",
+ "UPHENO:0026095",
+ "UPHENO:0003415",
+ "UPHENO:0004405",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UPHENO:0002554",
+ "HP:0010035",
+ "UBERON:0000153",
+ "UPHENO:0069163",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0004710",
+ "HP:0002984",
+ "UPHENO:0003022",
+ "UPHENO:0086635",
+ "UPHENO:0069292",
+ "GO:0008150",
+ "UBERON:0004716",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005178",
+ "UPHENO:0003088",
+ "UBERON:0001981",
+ "UPHENO:0046405",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0046396",
+ "GO:0031052",
+ "HP:0001324",
+ "UPHENO:0069327",
+ "UPHENO:0025546",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UBERON:0003606",
+ "UPHENO:0046505",
+ "UPHENO:0003065",
+ "UBERON:0001427",
+ "UBERON:0013630",
+ "UPHENO:0009399",
+ "UPHENO:0049868",
+ "UPHENO:0002719",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0026813",
+ "UPHENO:0015331",
+ "UPHENO:0025647",
+ "UPHENO:0026146",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "UPHENO:0004827",
+ "UPHENO:0069064",
+ "UPHENO:0076767",
+ "UPHENO:0081511",
+ "UBERON:0015410",
+ "UBERON:0004765",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0025441",
+ "UBERON:0002049",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0006716",
+ "UPHENO:0025585",
+ "UPHENO:0009386",
+ "UPHENO:0046483",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0081524",
+ "UPHENO:0005134",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UPHENO:0015308",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "UPHENO:0087018",
+ "HP:0002817",
+ "UPHENO:0009010",
+ "UPHENO:0008475",
+ "UPHENO:0075944",
+ "UPHENO:0009337",
+ "HP:0000001",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UBERON:0002374",
+ "UBERON:0015228",
+ "UPHENO:0015324",
+ "UPHENO:0026317",
+ "UPHENO:0002593",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0026098",
+ "UPHENO:0002916",
+ "UBERON:0001423",
+ "UPHENO:0026273",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0002902",
+ "UBERON:0011584",
+ "UPHENO:0001001",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0006876",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0025883",
+ "UPHENO:0002648",
+ "BFO:0000001",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "HP:0005916",
+ "UPHENO:0002945",
+ "UPHENO:0025176",
+ "HP:0001939",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0008709",
+ "UBERON:0001009",
+ "UPHENO:0080555",
+ "UBERON:0000915",
+ "UPHENO:0012312",
+ "UPHENO:0026640",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0015049",
+ "UBERON:0001033",
+ "HP:0002973",
+ "UBERON:0010543",
+ "UPHENO:0004142",
+ "UPHENO:0081451",
+ "UPHENO:0025961",
+ "UPHENO:0046554",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "HP:0009115",
+ "UPHENO:0002590",
+ "UPHENO:0002526",
+ "HP:0001643",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0080187",
+ "UPHENO:0011573",
+ "UBERON:0000026",
+ "UPHENO:0027014",
+ "UPHENO:0025845",
+ "UPHENO:0009391",
+ "UBERON:0012140",
+ "UBERON:0011249",
+ "UBERON:0001785",
+ "UPHENO:0076754",
+ "UPHENO:0086589",
+ "UPHENO:0046460",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0002781",
+ "UPHENO:0009367",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0053566",
+ "HP:0000301",
+ "UPHENO:0002751",
+ "HP:0006501",
+ "UPHENO:0003227",
+ "UBERON:0010708",
+ "UPHENO:0015281",
+ "UPHENO:0025508",
+ "UPHENO:0046455",
+ "UPHENO:0002659",
+ "UPHENO:0002752",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0009295",
+ "UPHENO:0079876",
+ "UBERON:0002075",
+ "HP:0011314",
+ "UBERON:0010741",
+ "UPHENO:0076729",
+ "UBERON:0010363",
+ "UPHENO:0003012",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "UPHENO:0025652",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0076755",
+ "UPHENO:0011498",
+ "UPHENO:0002568",
+ "UPHENO:0002433",
+ "HP:0006496",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0026097",
+ "UBERON:0003834",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0026808",
+ "HP:0009822",
+ "UPHENO:0025607",
+ "UPHENO:0033599",
+ "UBERON:0003221",
+ "UBERON:0001474",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "HP:0000924",
+ "UBERON:0009878",
+ "HP:0009851",
+ "UBERON:0002495",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "UPHENO:0026972",
+ "HP:0010009",
+ "UPHENO:0025788",
+ "UPHENO:0008865",
+ "UPHENO:0080325",
+ "HP:0009802",
+ "UPHENO:0002652",
+ "RO:0002577",
+ "UPHENO:0026183",
+ "UPHENO:0011492",
+ "UBERON:0013701",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0003799",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UPHENO:0027017",
+ "HP:0009815",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026329",
+ "UPHENO:0009115",
+ "HP:0011297",
+ "UPHENO:0033609",
+ "UPHENO:0087501",
+ "UPHENO:0026811",
+ "UPHENO:0009163",
+ "BFO:0000002",
+ "UPHENO:0002896",
+ "UPHENO:0025852",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0002899",
+ "UPHENO:0025882",
+ "UBERON:0006058",
+ "HP:0005922",
+ "UPHENO:0011563",
+ "UPHENO:0025527",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "BFO:0000003",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0046445",
+ "UPHENO:0050063",
+ "UBERON:0001434",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "GO:0042592",
+ "UBERON:0004381",
+ "HP:0033353",
+ "UPHENO:0003005",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0025645",
+ "UPHENO:0003082",
+ "UPHENO:0003413",
+ "HP:0003953",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0086797",
+ "UPHENO:0008703",
+ "UPHENO:0076718",
+ "UPHENO:0012308",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0002011",
+ "HP:0000119",
+ "UPHENO:0004173",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0009366",
+ "UPHENO:0046392",
+ "UBERON:0000477",
+ "UPHENO:0076703",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0004145",
+ "UBERON:0004708",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UBERON:0004572",
+ "UBERON:0010000",
+ "UPHENO:0011531",
+ "UPHENO:0025544",
+ "UPHENO:0050007",
+ "UBERON:0008785",
+ "HP:0003974",
+ "UPHENO:0004457",
+ "UBERON:0002428",
+ "UBERON:0007272",
+ "UPHENO:0005092",
+ "UBERON:0010538",
+ "UBERON:0002386",
+ "UPHENO:0003069",
+ "UPHENO:0002641",
+ "UPHENO:0002586",
+ "UBERON:0004571",
+ "UBERON:0003466",
+ "UPHENO:0025553",
+ "HP:0011835",
+ "UBERON:0001062",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UPHENO:0079872",
+ "GO:0031049",
+ "UPHENO:0026010",
+ "UBERON:0008229",
+ "UBERON:0012475",
+ "UBERON:0001436",
+ "UPHENO:0002926",
+ "UPHENO:0080191",
+ "UPHENO:0002731",
+ "HP:0006265",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0002559",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0033581",
+ "UPHENO:0011568",
+ "UPHENO:0025509",
+ "UBERON:0000475",
+ "UPHENO:0002668",
+ "HP:0012799",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UPHENO:0069125",
+ "UBERON:0011216",
+ "UPHENO:0011572",
+ "UBERON:0034713",
+ "UBERON:0010758",
+ "UPHENO:0009209",
+ "UPHENO:0005214",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0002983",
+ "UBERON:0010688",
+ "UPHENO:0002604",
+ "UPHENO:0068839",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "UPHENO:0002880",
+ "UBERON:0004452",
+ "UPHENO:0046465",
+ "UBERON:0003513",
+ "UPHENO:0003432",
+ "UPHENO:0025808",
+ "UBERON:0010544",
+ "UPHENO:0004595",
+ "UBERON:0001435",
+ "UPHENO:0002717",
+ "UPHENO:0002949",
+ "UPHENO:0002967",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002756",
+ "HP:0010026",
+ "UPHENO:0076776",
+ "UPHENO:0009356",
+ "UPHENO:0081204",
+ "UPHENO:0025497",
+ "UPHENO:0076765",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0046479",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "GO:0040007",
+ "UPHENO:0025855",
+ "HP:0001510",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0002816",
+ "UBERON:0015042",
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "regional part of nervous system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "axial skeleton plus cranial skeleton",
"postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
+ "aplasia or hypoplasia of telencephalon",
"multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "Abnormal cerebral morphology",
+ "multi-tissue structure",
+ "cellular organisms",
+ "nervous system morphology phenotype",
+ "size of skull phenotype",
+ "Opisthokonta",
+ "Abnormality of skull size",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "root",
+ "skull morphology phenotype",
+ "regional part of brain phenotype",
+ "brain morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Eumetazoa",
+ "head morphology phenotype",
+ "cranial skeletal system",
+ "axial skeletal system",
+ "ectoderm-derived structure",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
"forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
+ "localised trunk region element",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdominal segment of trunk",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "upper urinary tract",
+ "kidney morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "Abnormality of the genitourinary system",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "Ectopic kidney",
+ "renal system phenotype",
+ "renal system",
+ "excretory system",
+ "Abnormal 1st metacarpal morphology",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "localised kidney",
+ "Aplasia involving bones of the upper limbs",
+ "abdominal segment element",
+ "localised abdomen element",
+ "abdomen element phenotype",
+ "carpal bone phenotype",
+ "absent forelimb endochondral element in the forelimb",
+ "absent carpus endochondral element",
+ "absent carpus endochondral element in the limb",
+ "absent manus bone in the metacarpus region",
+ "limb",
+ "proximal carpal bone",
"decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
- "trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
- "pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
+ "forelimb",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "absent mesopodium bone in the limb",
+ "proximal carpal endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "articulation",
+ "carpal region phenotype",
+ "mesopodial skeleton",
+ "localised cavitated compound organ",
+ "radiale phenotype",
+ "carpal region",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "Abnormality of the musculoskeletal system",
+ "skeletal joint phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "carpal bone morphology phenotype",
+ "Abnormality of the cardiovascular system",
+ "carpal skeleton",
+ "proximal carpal bone phenotype",
+ "manus bone",
+ "absent proximal carpal endochondral element",
+ "skeletal joint",
+ "proximal mesopodial bone",
+ "mesopodium bone",
+ "paired limb/fin phenotype",
"decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
+ "renal/urinary system phenotype",
+ "Abnormal muscle physiology",
+ "proximal carpal endochondral element",
+ "proximal mesopodial endochondral element phenotype",
+ "Abnormal joint morphology",
+ "Absent scaphoid",
+ "skeletal muscle organ, vertebrate",
"aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
+ "vasculature phenotype",
+ "Aplasia of the 1st metacarpal",
+ "metacarpal bone phenotype",
+ "cavitated compound organ",
+ "mesopodium region phenotype",
+ "absent forelimb long bone in the metacarpus region",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "absent anatomical structure in the metacarpus region",
+ "absent forelimb endochondral element in the metacarpus region",
+ "Abnormality of the wrist",
+ "metacarpal bone morphology phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "metapodium region",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "absent autopod bone in the limb",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "carpal bone",
+ "absent bone of free limb or fin in the metacarpus region",
+ "brain",
+ "absent manus bone",
+ "phalanx phenotype",
+ "absent autopod endochondral element in the limb",
+ "Partial absence of thumb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "Aplasia of metacarpal bones",
+ "phalanx endochondral element",
+ "ectoderm-derived structure phenotype",
+ "metapodial skeleton",
+ "acropodial skeleton",
"limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
+ "absent limb bone in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "manual digit bone",
+ "metacarpus region",
+ "autopod endochondral element",
"forelimb bone",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
- "anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
- "skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
- "bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
+ "metacarpus skeleton",
+ "metacarpus skeleton phenotype",
+ "mesopodial skeleton phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "nerve",
+ "aplastic manual digit 1 phalanx",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "multi organ part structure phenotype",
+ "aplastic phalanx of manus",
+ "absent autopod bone",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "absent metapodium bone",
+ "artery morphology phenotype",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "manual digit 1 phalanx phenotype",
+ "aplastic carpal bone",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "absent manual digit metacarpus endochondral element",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "digitopodium bone",
+ "autopodial extension",
+ "radiale",
+ "manual digit 1 phalanx endochondral element",
+ "digit 1 or 5 phenotype",
+ "metacarpal bone",
+ "phalanx of manus phenotype",
+ "forebrain",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "subdivision of head",
+ "cell phenotype",
+ "metapodial skeleton phenotype",
+ "Abnormality of facial musculature",
+ "Abnormality of the nervous system",
+ "decreased size of the bone of pectoral complex",
+ "absent endochondral bone in the metacarpus region",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "cranial muscle phenotype",
+ "aplasia or hypoplasia of proximal phalanx of manus",
+ "craniocervical muscle",
+ "absent forelimb bone in the metacarpus region",
+ "phalanx of manus",
+ "nerve of head region",
+ "anatomical structure physiology phenotype",
+ "Weakness of facial musculature",
+ "Muscle weakness",
+ "anatomical system",
+ "head",
+ "nervous system",
+ "metacarpal bone of digit 1 morphology phenotype",
"organism subdivision phenotype",
+ "skeletal musculature phenotype",
+ "nervous system physiology phenotype",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "absent forelimb bone",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
+ "carpal skeleton phenotype",
+ "facial nerve",
+ "axial musculature",
+ "manus bone phenotype",
+ "localised anatomical entity",
+ "craniocervical muscle phenotype",
+ "Abnormality of limb bone",
+ "muscle organ physiology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "cranial or facial muscle",
"manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
- "thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
+ "skeletal musculature",
+ "muscle organ morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "absent carpal bone in the limb",
+ "cranial or facial muscle phenotype",
"pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
+ "skeletal musculature of head",
+ "phalanx morphology phenotype",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "decreased muscle organ strength",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "genitourinary system",
+ "Abnormality of facial soft tissue",
+ "incomplete closing of the anatomical structure",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "forelimb morphology phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "absent radiale",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "absent manual digitopodium bone",
+ "regulation of metabolic process phenotype",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Unilateral facial palsy",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
"subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "skeletal system phenotype",
+ "absent metacarpal bone",
"thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "decreased length of digit 1",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Abnormal morphology of the radius",
+ "vessel",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "absent proximal carpal bone",
+ "regulation of gene expression phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "Abnormality of metabolism/homeostasis",
+ "absent bone of pectoral complex",
+ "cranial muscle",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "absent carpal bone",
+ "paralysed anatomical entity",
"manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "manual digit 1 morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "Finger aplasia",
+ "peripheral nervous system phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
+ "autopod bone phenotype",
+ "manual digit 1",
+ "All",
"skeleton of manus",
- "limb endochondral element phenotype",
+ "Abnormality of head or neck",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Facial palsy",
+ "manual digitopodium region",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent organism subdivision",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "metacarpal bone of digit 1",
+ "individual digit of digitopodial skeleton",
+ "skeleton of manual digitopodium",
+ "short bone phenotype",
+ "autopod region phenotype",
+ "manus phenotype",
+ "manual digit bone phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the ductus arteriosus",
+ "digit phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Abnormal hand morphology",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "digit plus metapodial segment",
+ "autopod region",
+ "aplastic manual digit 1",
+ "absent manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "systemic arterial system",
+ "telencephalon morphology phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "negative regulation of metabolic process",
+ "arm bone",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the thoracic segment blood vessel",
+ "absent metapodium bone in the metacarpus region",
+ "localised organ",
+ "structure with developmental contribution from neural crest phenotype",
+ "manus morphology phenotype",
+ "opening of the anatomical entity",
+ "arterial blood vessel phenotype",
+ "primary circulatory organ phenotype",
+ "trunk",
+ "craniocervical region phenotype",
+ "absent bone element in the metacarpus region",
+ "blood vessel morphology phenotype",
+ "manual digitopodium bone phenotype",
+ "thoracic segment of trunk",
+ "vascular system morphology phenotype",
+ "mesopodium region",
+ "absent radius endochondral element in the forelimb",
+ "incomplete closing of the coronary vessel",
+ "manual digit 1 or 5",
+ "organ physiology phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "metapodium bone phenotype",
+ "manual digit plus metapodial segment",
+ "conceptus",
+ "incomplete closing of the multicellular anatomical structure",
+ "absent material anatomical entity in the metacarpus region",
+ "forelimb zeugopod phenotype",
+ "trunk blood vessel phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "autopodial extension phenotype",
+ "Abnormal cardiovascular system morphology",
+ "thoracic segment blood vessel",
+ "ductus arteriosus",
+ "decreased length of anatomical structure",
+ "material anatomical entity",
+ "blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "musculature phenotype",
+ "coronary vessel",
+ "outflow tract",
+ "decreased length of forelimb zeugopod bone",
+ "heart",
+ "decreased length of forelimb endochondral element",
+ "incomplete closing of the artery",
+ "Abnormal vascular morphology",
+ "manual digit",
+ "viscus phenotype",
+ "anatomical entity length phenotype",
+ "incomplete closing of the anatomical conduit",
+ "regulation of macromolecule metabolic process phenotype",
+ "trunk phenotype",
+ "vasculature of trunk",
+ "radius bone morphology phenotype",
+ "absent proximal mesopodial endochondral element",
+ "absent anatomical structure in the forelimb",
+ "trunk blood vessel",
+ "skeletal element",
+ "arterial blood vessel",
+ "Abnormality of the upper limb",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "heart phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical cluster phenotype",
+ "Abnormal seventh cranial physiology",
+ "systemic artery phenotype",
+ "vascular system",
+ "paired limb/fin skeleton",
+ "viscus",
+ "absent long bone in the metacarpus region",
+ "compound organ phenotype",
+ "great vessel of heart morphology phenotype",
+ "circulatory system",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormal forebrain morphology",
+ "body proper",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "vessel phenotype",
+ "decreased length of limb endochondral element",
+ "vasculature of organ",
+ "biological_process phenotype",
+ "autopod bone",
+ "Abnormal forearm bone morphology",
+ "anatomical conduit",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "circulatory system phenotype",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "musculature",
+ "incomplete closing of the systemic artery",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "incomplete closing of the material anatomical entity",
+ "central nervous system",
"digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
+ "Eukaryota",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "absent skeletal element in the forelimb",
"autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
+ "trunk region element",
+ "anatomical cluster",
+ "Abnormal finger phalanx morphology",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "carpus endochondral element",
+ "absent digitopodium bone",
+ "regulation of cellular process phenotype",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "growth",
+ "aplastic metacarpal bone of digit 1",
+ "segment of manus",
+ "Growth delay",
+ "decreased size of the limb endochondral element",
+ "Growth abnormality",
+ "limb endochondral element",
+ "Abnormal blood vessel morphology",
+ "limb bone phenotype",
+ "decreased size of the limb bone",
+ "Aplasia involving bones of the extremities",
+ "subdivision of trunk",
+ "cardiovascular system phenotype",
+ "proximal mesopodial endochondral element",
+ "short bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of carpal bone",
+ "absent limb endochondral element in the forelimb",
+ "multi cell part structure phenotype",
+ "decreased size of the arm bone",
+ "incomplete closing of the trunk blood vessel",
+ "decreased size of the bone of free limb or fin",
+ "vasculature of organ phenotype",
+ "anterior region of body",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormality of the vasculature",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "decreased length of endochondral bone",
+ "upper urinary tract phenotype",
+ "ductus arteriosus morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "decreased length of skeletal element",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "skeleton of digitopodium",
+ "anatomical system physiology phenotype",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "heart vasculature",
+ "decreased size of the multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "size of anatomical entity phenotype",
+ "Short long bone",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
"decreased size of the organ",
+ "regulation of biological process",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "absent autopod endochondral element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "neuron projection bundle phenotype",
+ "anatomical conduit phenotype",
+ "Aplasia/Hypoplasia of fingers",
"radius bone phenotype",
- "abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
- "genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "limb segment",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "process",
+ "decreased size of the forelimb bone",
+ "organism subdivision",
+ "pectoral appendage",
+ "absent endochondral element in the metacarpus region",
+ "Abnormal limb bone morphology",
+ "arm",
+ "cranial nerve phenotype",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "blood vasculature",
+ "incomplete closing of the heart blood vessel",
+ "face phenotype",
+ "Hypoplasia of the radius",
+ "absent multicellular anatomical structure in the limb",
+ "anatomical structure",
+ "coronary vessel morphology phenotype",
+ "circulatory organ",
+ "heart blood vessel",
+ "delayed biological_process",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
"cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
+ "articular system",
+ "absent short bone in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia of the extremities",
+ "skeleton of manual acropodium",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "artery phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormal carpal morphology",
+ "appendicular skeleton phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "manual digit phalanx endochondral element phenotype",
+ "Phenotypic abnormality",
+ "absent anatomical entity in the metacarpus region",
+ "bone of pectoral complex morphology phenotype",
+ "proximal mesopodial bone phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
"number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
- "kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
- "Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
+ "Patent ductus arteriosus",
+ "heart morphology phenotype",
+ "metapodium bone",
+ "decreased length of arm bone",
+ "zeugopod",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "cranial nerve",
+ "bone element",
+ "forelimb zeugopod morphology phenotype",
"material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
+ "regulation of macromolecule biosynthetic process",
+ "great vessel of heart",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "phalanx endochondral element phenotype",
+ "skeletal system",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "primary circulatory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "manual digit digitopodial skeleton",
+ "thoracic cavity element",
+ "blood vessel phenotype",
+ "absent organ",
+ "absent limb endochondral element in the limb",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "digitopodium bone phenotype",
+ "absent forelimb long bone",
+ "decreased length of forelimb bone",
+ "absent short bone",
+ "Abnormal proximal phalanx morphology of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "forelimb phenotype",
+ "absent bone element in the forelimb",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "kidney phenotype",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "absent mesopodium bone",
+ "multicellular organism phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "absent autopodial extension",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "arm bone phenotype",
+ "cardiovascular system morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "thoracic cavity element phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "absent material anatomical entity",
+ "absent skeletal element in the limb",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "absent anatomical entity",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "central nervous system phenotype",
+ "mesopodium bone phenotype",
+ "limb long bone",
+ "anatomical entity morphology phenotype",
+ "absent organ in the metacarpus region",
+ "craniocervical region musculature",
+ "manual digit metacarpus endochondral element",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
+ "system",
+ "absent bone of free limb or fin in the limb",
+ "outflow tract phenotype",
+ "limb phenotype",
+ "aplasia or hypoplasia of metacarpal bone",
+ "number of anatomical enitites of type bone element phenotype",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormal long bone morphology",
+ "Abnormal metacarpal morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "absent bone of appendage girdle complex in the limb",
+ "Aplasia/hypoplasia involving the skeleton",
+ "nervous system phenotype",
+ "forelimb endochondral element",
+ "absent manual digitopodium bone in the metacarpus region",
+ "homeostatic process phenotype",
+ "absent material anatomical entity in the limb",
+ "thoracic segment organ",
+ "continuant",
+ "agenesis of anatomical entity",
+ "absent bone element",
+ "vasculature",
+ "limb morphology phenotype",
+ "phenotypic effect",
+ "embryonic cardiovascular system",
+ "absent organ in the forelimb",
+ "limb bone",
+ "anatomical entity morphology in the pectoral complex phenotype",
"number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
"growth phenotype",
+ "forelimb zeugopod bone phenotype",
+ "manual digit 1 metacarpus endochondral element",
+ "absent radius endochondral element",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "arm phenotype",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "occurrent",
+ "absent digitopodium bone in the metacarpus region",
+ "absent anatomical entity in the skeletal system",
+ "metapodium bone 1",
+ "absent autopod bone in the metacarpus region",
+ "artery",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "absent bone of free limb or fin",
+ "absent endochondral bone",
+ "gustatory system",
+ "Abnormal skeletal muscle morphology",
+ "radius bone hypoplasia",
+ "decreased length of anatomical entity",
+ "absent bone of pectoral complex in the metacarpus region",
+ "paired limb/fin skeleton phenotype",
+ "forelimb zeugopod",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent bone of pectoral complex in the limb",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of upper limb joint",
+ "absent limb bone",
+ "absent bone of pectoral complex in the forelimb",
+ "absent manus bone in the limb",
+ "long bone",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "absent endochondral element in the forelimb",
+ "anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "arterial system",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "Carpal bone aplasia",
+ "upper limb segment phenotype",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "forelimb bone phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "entity",
+ "radius endochondral element",
+ "paired limb/fin segment phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "incomplete closing of the anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "anatomical structure phenotype",
+ "endochondral element",
+ "appendage phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "skeleton phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "Abnormal skeletal morphology",
+ "absent limb long bone in the metacarpus region",
+ "Absent radius",
+ "anatomical entity phenotype",
+ "appendicular skeletal system",
+ "carpus endochondral element phenotype",
+ "radius bone",
+ "localised compound organ",
+ "absent arm bone in the forelimb",
+ "organ",
+ "pectoral appendage phenotype",
+ "Abnormal nervous system morphology",
+ "incomplete closing of the mesoderm-derived structure",
+ "skull",
+ "taxon specific phenotype",
+ "aplasia or hypoplasia of phalanx of manus",
+ "absent forelimb zeugopod bone",
+ "musculature of face",
+ "facial nerve phenotype",
+ "decreased size of the endochondral element",
+ "Abnormality of the musculature",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "musculoskeletal system",
+ "forelimb long bone",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "musculoskeletal system phenotype",
+ "muscle structure",
+ "anatomical entity morphology in the heart phenotype",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "Abnormal forearm morphology",
+ "decreased size of the skeletal element",
+ "forelimb skeleton phenotype",
+ "skeleton of limb phenotype",
+ "Metazoa",
+ "absent proximal mesopodial bone",
+ "anatomical collection",
+ "absent skeletal element in the metacarpus region",
+ "systemic artery morphology phenotype",
+ "absent endochondral element in the limb",
+ "Aplasia involving forearm bones",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent forelimb bone in the forelimb",
+ "main body axis",
+ "peripheral nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "mesoderm-derived structure",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "segment of autopod",
+ "forelimb skeleton",
+ "limb long bone phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "decreased anatomical entity strength",
+ "vasculature of trunk phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "decreased length of bone of free limb or fin",
+ "decreased length of long bone",
+ "endochondral element phenotype",
+ "subdivision of skeletal system phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "gustatory system phenotype",
+ "absent limb long bone in the forelimb",
+ "metapodium bone 1 phenotype",
+ "anatomical system phenotype",
+ "absent forelimb endochondral element",
+ "Aplasia of the phalanges of the hand",
+ "absent multicellular anatomical structure",
],
},
],
diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py
index 871e8adcf..8413d81c9 100644
--- a/backend/tests/fixtures/histopheno.py
+++ b/backend/tests/fixtures/histopheno.py
@@ -6,23 +6,23 @@ def histopheno():
return {
"id": "MONDO:0020121",
"items": [
- {"label": "musculature", "count": 2057, "id": "UPHENO:0002816"},
- {"label": "nervous_system", "count": 1113, "id": "UPHENO:0004523"},
- {"label": "head_neck", "count": 595, "id": "UPHENO:0002764"},
- {"label": "skeletal_system", "count": 508, "id": "UPHENO:0002964"},
+ {"label": "musculature", "count": 2035, "id": "UPHENO:0002816"},
+ {"label": "nervous_system", "count": 1042, "id": "UPHENO:0004523"},
+ {"label": "head_neck", "count": 594, "id": "UPHENO:0002764"},
+ {"label": "skeletal_system", "count": 500, "id": "UPHENO:0002964"},
{"label": "eye", "count": 297, "id": "UPHENO:0003020"},
- {"label": "metabolism_homeostasis", "count": 225, "id": "HP:0001939"},
- {"label": "blood", "count": 183, "id": "UPHENO:0004459"},
+ {"label": "metabolism_homeostasis", "count": 222, "id": "HP:0001939"},
+ {"label": "blood", "count": 180, "id": "UPHENO:0004459"},
{"label": "connective_tissue", "count": 175, "id": "UPHENO:0002712"},
{"label": "respiratory", "count": 157, "id": "UPHENO:0004536"},
- {"label": "digestive_system", "count": 153, "id": "UPHENO:0002833"},
+ {"label": "digestive_system", "count": 147, "id": "UPHENO:0002833"},
{"label": "integument", "count": 49, "id": "UPHENO:0002635"},
- {"label": "genitourinary_system", "count": 49, "id": "UPHENO:0002642"},
+ {"label": "genitourinary_system", "count": 47, "id": "UPHENO:0002642"},
{"label": "growth", "count": 32, "id": "UPHENO:0049874"},
- {"label": "immune_system", "count": 28, "id": "UPHENO:0002948"},
- {"label": "ear", "count": 26, "id": "HP:0000598"},
+ {"label": "immune_system", "count": 27, "id": "UPHENO:0002948"},
{"label": "endocrine", "count": 25, "id": "UPHENO:0003116"},
- {"label": "prenatal_or_birth", "count": 22, "id": "UPHENO:0075949"},
+ {"label": "ear", "count": 21, "id": "HP:0000598"},
+ {"label": "prenatal_or_birth", "count": 21, "id": "UPHENO:0075949"},
{"label": "neoplasm", "count": 7, "id": "HP:0002664"},
{"label": "breast", "count": 1, "id": "UPHENO:0003013"},
{"label": "cardiovascular_system", "count": 0, "id": "UPHENO:0080362"},
diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py
index f9938d00a..b835eb4e2 100644
--- a/backend/tests/fixtures/histopheno_response.py
+++ b/backend/tests/fixtures/histopheno_response.py
@@ -5,7 +5,7 @@
def histopheno_response():
return {
"responseHeader": {
- "QTime": 1,
+ "QTime": 2,
"params": {
"facet.query": [
'object_closure:"UPHENO:0002964"',
@@ -41,28 +41,28 @@ def histopheno_response():
"facet": "true",
},
},
- "response": {"num_found": 4563, "start": 0, "docs": []},
+ "response": {"num_found": 4560, "start": 0, "docs": []},
"facet_counts": {
"facet_fields": {},
"facet_queries": {
- 'object_closure:"UPHENO:0002964"': 508,
- 'object_closure:"UPHENO:0004523"': 1113,
- 'object_closure:"UPHENO:0002764"': 595,
+ 'object_closure:"UPHENO:0002964"': 500,
+ 'object_closure:"UPHENO:0004523"': 1042,
+ 'object_closure:"UPHENO:0002764"': 594,
'object_closure:"UPHENO:0002635"': 49,
'object_closure:"UPHENO:0003020"': 297,
'object_closure:"UPHENO:0080362"': 0,
- 'object_closure:"HP:0001939"': 225,
- 'object_closure:"UPHENO:0002642"': 49,
- 'object_closure:"UPHENO:0002833"': 153,
+ 'object_closure:"HP:0001939"': 222,
+ 'object_closure:"UPHENO:0002642"': 47,
+ 'object_closure:"UPHENO:0002833"': 147,
'object_closure:"HP:0002664"': 7,
- 'object_closure:"UPHENO:0004459"': 183,
- 'object_closure:"UPHENO:0002948"': 28,
+ 'object_closure:"UPHENO:0004459"': 180,
+ 'object_closure:"UPHENO:0002948"': 27,
'object_closure:"UPHENO:0003116"': 25,
- 'object_closure:"UPHENO:0002816"': 2057,
+ 'object_closure:"UPHENO:0002816"': 2035,
'object_closure:"UPHENO:0004536"': 157,
- 'object_closure:"HP:0000598"': 26,
+ 'object_closure:"HP:0000598"': 21,
'object_closure:"UPHENO:0002712"': 175,
- 'object_closure:"UPHENO:0075949"': 22,
+ 'object_closure:"UPHENO:0075949"': 21,
'object_closure:"UPHENO:0049874"': 32,
'object_closure:"UPHENO:0003013"': 1,
},
diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py
index 630eb4d0a..2d18e39ea 100644
--- a/backend/tests/fixtures/mapping_response.py
+++ b/backend/tests/fixtures/mapping_response.py
@@ -30,7 +30,7 @@ def mapping_response():
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb",
+ "id": "8455f67d-5d08-4a66-8e5f-c427b2d7938c",
},
{
"subject_id": "MONDO:0020121",
@@ -39,7 +39,7 @@ def mapping_response():
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96",
+ "id": "9e54ec61-241e-40ae-a0c2-8fa2b8d6064d",
},
{
"subject_id": "MONDO:0020121",
@@ -47,7 +47,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "MEDGEN:44527",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1",
+ "id": "f5197cb5-7664-4237-bb93-2dc62b9202dd",
},
{
"subject_id": "MONDO:0020121",
@@ -56,7 +56,7 @@ def mapping_response():
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375",
+ "id": "269439d9-e4ad-4a20-9700-79b0e335332a",
},
{
"subject_id": "MONDO:0020121",
@@ -65,7 +65,7 @@ def mapping_response():
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da",
+ "id": "f05769c9-054b-46bd-8c86-c48a909dfd20",
},
{
"subject_id": "MONDO:0020121",
@@ -73,7 +73,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "SCTID:73297009",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25",
+ "id": "522fe0bd-7b20-4e6c-85e1-9e0ff0a1f841",
},
{
"subject_id": "MONDO:0020121",
@@ -81,7 +81,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "UMLS:C0026850",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4",
+ "id": "419450c7-7cec-412d-a438-00cbdc979ab1",
},
{
"subject_id": "MONDO:0020121",
@@ -89,7 +89,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "icd11.foundation:1464662404",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984",
+ "id": "0c5a4465-68aa-4287-8df6-af0407bf201c",
},
{
"subject_id": "MONDO:0020121",
@@ -97,7 +97,7 @@ def mapping_response():
"predicate_id": "skos:exactMatch",
"object_id": "MESH:D009136",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf",
+ "id": "91fac932-a84a-4a63-8b95-8555d2b7993a",
},
],
},
diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py
index 91e8c4496..d81829224 100644
--- a/backend/tests/fixtures/mappings.py
+++ b/backend/tests/fixtures/mappings.py
@@ -15,7 +15,7 @@ def mappings():
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb",
+ "id": "8455f67d-5d08-4a66-8e5f-c427b2d7938c",
},
{
"subject_id": "MONDO:0020121",
@@ -24,7 +24,7 @@ def mappings():
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96",
+ "id": "9e54ec61-241e-40ae-a0c2-8fa2b8d6064d",
},
{
"subject_id": "MONDO:0020121",
@@ -33,7 +33,7 @@ def mappings():
"object_id": "MEDGEN:44527",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1",
+ "id": "f5197cb5-7664-4237-bb93-2dc62b9202dd",
},
{
"subject_id": "MONDO:0020121",
@@ -42,7 +42,7 @@ def mappings():
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375",
+ "id": "269439d9-e4ad-4a20-9700-79b0e335332a",
},
{
"subject_id": "MONDO:0020121",
@@ -51,7 +51,7 @@ def mappings():
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da",
+ "id": "f05769c9-054b-46bd-8c86-c48a909dfd20",
},
{
"subject_id": "MONDO:0020121",
@@ -60,7 +60,7 @@ def mappings():
"object_id": "SCTID:73297009",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25",
+ "id": "522fe0bd-7b20-4e6c-85e1-9e0ff0a1f841",
},
{
"subject_id": "MONDO:0020121",
@@ -69,7 +69,7 @@ def mappings():
"object_id": "UMLS:C0026850",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4",
+ "id": "419450c7-7cec-412d-a438-00cbdc979ab1",
},
{
"subject_id": "MONDO:0020121",
@@ -78,7 +78,7 @@ def mappings():
"object_id": "icd11.foundation:1464662404",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984",
+ "id": "0c5a4465-68aa-4287-8df6-af0407bf201c",
},
{
"subject_id": "MONDO:0020121",
@@ -87,7 +87,7 @@ def mappings():
"object_id": "MESH:D009136",
"object_label": None,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf",
+ "id": "91fac932-a84a-4a63-8b95-8555d2b7993a",
},
],
}
diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py
index b623b1b3a..4bc0abb9c 100644
--- a/backend/tests/fixtures/node.py
+++ b/backend/tests/fixtures/node.py
@@ -76,13 +76,19 @@ def node():
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4077,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation",
},
+ {"label": "Gene to Phenotype", "count": 6350, "category": "biolink:GeneToPhenotypicFeatureAssociation"},
{"label": "Causal Gene", "count": 125, "category": "biolink:CausalGeneToDiseaseAssociation"},
{"label": "Correlated Gene", "count": 150, "category": "biolink:CorrelatedGeneToDiseaseAssociation"},
{"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"},
- {"label": "Disease Model", "count": 238, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {"label": "Disease Model", "count": 239, "category": "biolink:GenotypeToDiseaseAssociation"},
+ {
+ "label": "Medical Action",
+ "count": 4,
+ "category": "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation",
+ },
],
"node_hierarchy": {
"super_classes": [
@@ -154,6 +160,28 @@ def node():
},
],
"sub_classes": [
+ {
+ "id": "MONDO:0100228",
+ "category": "biolink:Disease",
+ "name": "LAMA2-related muscular dystrophy",
+ "full_name": None,
+ "deprecated": None,
+ "description": None,
+ "xref": None,
+ "provided_by": None,
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": None,
+ "uri": None,
+ "iri": None,
+ "namespace": None,
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": None,
+ },
{
"id": "MONDO:0008028",
"category": "biolink:Disease",
@@ -396,28 +424,6 @@ def node():
"has_phenotype_closure_label": None,
"has_phenotype_count": None,
},
- {
- "id": "MONDO:0100228",
- "category": "biolink:Disease",
- "name": "LAMA2-related muscular dystrophy",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": None,
- "provided_by": None,
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": None,
- "uri": None,
- "iri": None,
- "namespace": None,
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": None,
- },
],
},
}
diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py
index 6714fe423..a3c97de56 100644
--- a/backend/tests/fixtures/object_formatted.py
+++ b/backend/tests/fixtures/object_formatted.py
@@ -146,9 +146,14 @@ def node_json():
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4077,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
+ {
+ "label": "Gene to Phenotype",
+ "count": 6350,
+ "category": "biolink:GeneToPhenotypicFeatureAssociation"
+ },
{
"label": "Causal Gene",
"count": 125,
@@ -166,8 +171,13 @@ def node_json():
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 239,
"category": "biolink:GenotypeToDiseaseAssociation"
+ },
+ {
+ "label": "Medical Action",
+ "count": 4,
+ "category": "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation"
}
],
"node_hierarchy": {
@@ -240,6 +250,28 @@ def node_json():
}
],
"sub_classes": [
+ {
+ "id": "MONDO:0100228",
+ "category": "biolink:Disease",
+ "name": "LAMA2-related muscular dystrophy",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": null,
+ "provided_by": null,
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": null,
+ "uri": null,
+ "iri": null,
+ "namespace": null,
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": null
+ },
{
"id": "MONDO:0008028",
"category": "biolink:Disease",
@@ -481,28 +513,6 @@ def node_json():
"has_phenotype_closure": null,
"has_phenotype_closure_label": null,
"has_phenotype_count": null
- },
- {
- "id": "MONDO:0100228",
- "category": "biolink:Disease",
- "name": "LAMA2-related muscular dystrophy",
- "full_name": null,
- "deprecated": null,
- "description": null,
- "xref": null,
- "provided_by": null,
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": null,
- "uri": null,
- "iri": null,
- "namespace": null,
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": null
}
]
}
@@ -514,7 +524,7 @@ def node_json():
def node_tsv():
return """
id category name full_name deprecated description xref provided_by in_taxon in_taxon_label symbol synonym uri iri namespace has_phenotype has_phenotype_label has_phenotype_closure has_phenotype_closure_label has_phenotype_count inheritance causal_gene causes_disease mappings external_links provided_by_link association_counts node_hierarchy
-MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MEDGEN:44527', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None None http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO None None None None 0 None [] None [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Disease to Phenotype', 'count': 4082, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 125, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 150, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 238, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}]}
+MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MEDGEN:44527', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None None http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO None None None None 0 None [] None [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MEDGEN:44527', 'url': 'http://identifiers.org/medgen/44527'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Disease to Phenotype', 'count': 4077, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Gene to Phenotype', 'count': 6350, 'category': 'biolink:GeneToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 125, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 150, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 239, 'category': 'biolink:GenotypeToDiseaseAssociation'}, {'label': 'Medical Action', 'count': 4, 'category': 'biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': None, 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': None, 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': None, 'has_phenotype_label': None, 'has_phenotype_closure': None, 'has_phenotype_closure_label': None, 'has_phenotype_count': None}]}
"""
@@ -523,8 +533,11 @@ def node_yaml():
return """
association_counts:
- category: biolink:DiseaseToPhenotypicFeatureAssociation
- count: 4082
+ count: 4077
label: Disease to Phenotype
+- category: biolink:GeneToPhenotypicFeatureAssociation
+ count: 6350
+ label: Gene to Phenotype
- category: biolink:CausalGeneToDiseaseAssociation
count: 125
label: Causal Gene
@@ -535,8 +548,11 @@ def node_yaml():
count: 1
label: Variant to Disease
- category: biolink:GenotypeToDiseaseAssociation
- count: 238
+ count: 239
label: Disease Model
+- category: biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation
+ count: 4
+ label: Medical Action
category: biolink:Disease
causal_gene: []
causes_disease: null
@@ -617,6 +633,26 @@ def node_yaml():
namespace: MONDO
node_hierarchy:
sub_classes:
+ - category: biolink:Disease
+ deprecated: null
+ description: null
+ full_name: null
+ has_phenotype: null
+ has_phenotype_closure: null
+ has_phenotype_closure_label: null
+ has_phenotype_count: null
+ has_phenotype_label: null
+ id: MONDO:0100228
+ in_taxon: null
+ in_taxon_label: null
+ iri: null
+ name: LAMA2-related muscular dystrophy
+ namespace: null
+ provided_by: null
+ symbol: null
+ synonym: null
+ uri: null
+ xref: null
- category: biolink:Disease
deprecated: null
description: null
@@ -837,26 +873,6 @@ def node_yaml():
synonym: null
uri: null
xref: null
- - category: biolink:Disease
- deprecated: null
- description: null
- full_name: null
- has_phenotype: null
- has_phenotype_closure: null
- has_phenotype_closure_label: null
- has_phenotype_count: null
- has_phenotype_label: null
- id: MONDO:0100228
- in_taxon: null
- in_taxon_label: null
- iri: null
- name: LAMA2-related muscular dystrophy
- namespace: null
- provided_by: null
- symbol: null
- synonym: null
- uri: null
- xref: null
super_classes:
- category: biolink:Disease
deprecated: null
diff --git a/backend/tests/fixtures/object_headers.py b/backend/tests/fixtures/object_headers.py
index b773e874e..4ff5d8bd9 100644
--- a/backend/tests/fixtures/object_headers.py
+++ b/backend/tests/fixtures/object_headers.py
@@ -16,6 +16,7 @@ def association_headers():
"subject_taxon",
"subject_taxon_label",
"predicate",
+ "original_predicate",
"object",
"original_object",
"object_namespace",
@@ -77,6 +78,18 @@ def association_headers():
"species_context_qualifier_label",
"species_context_qualifier_namespace",
"species_context_qualifier_category",
+ "subject_specialization_qualifier",
+ "subject_specialization_qualifier_label",
+ "subject_specialization_qualifier_namespace",
+ "subject_specialization_qualifier_category",
+ "subject_specialization_qualifier_closure",
+ "subject_specialization_qualifier_closure_label",
+ "object_specialization_qualifier",
+ "object_specialization_qualifier_label",
+ "object_specialization_qualifier_namespace",
+ "object_specialization_qualifier_category",
+ "object_specialization_qualifier_closure",
+ "object_specialization_qualifier_closure_label",
]
diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py
index c7dc2b9a0..ac8fe8f1e 100644
--- a/backend/tests/fixtures/search.py
+++ b/backend/tests/fixtures/search.py
@@ -6,7 +6,7 @@ def search():
return {
"limit": 20,
"offset": 0,
- "total": 122,
+ "total": 128,
"items": [
{
"id": "MONDO:0019391",
@@ -105,7 +105,6 @@ def search():
"HP:0000568",
"HP:0000520",
"HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
@@ -156,6 +155,7 @@ def search():
"HP:0001172",
"HP:0001053",
"HP:0001000",
+ "HP:0000508",
],
"has_phenotype_label": [
"Duodenal stenosis",
@@ -213,7 +213,6 @@ def search():
"Microphthalmia",
"Proptosis",
"Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
@@ -264,4021 +263,3862 @@ def search():
"Abnormal thumb morphology",
"Hypopigmented skin patches",
"Abnormality of skin pigmentation",
+ "Ptosis",
],
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
"UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
+ "CL:0000233",
+ "CL:0000225",
"HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
"HP:0001881",
"UPHENO:0063722",
- "UPHENO:0085410",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
"UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
"HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
+ "HP:0001939",
"UPHENO:0075159",
+ "UPHENO:0080351",
"HP:0004322",
- "GO:0034101",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
"HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
"HP:0001903",
"GO:0030218",
+ "GO:0030097",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
"UPHENO:0080187",
"HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
+ "HP:0006501",
+ "HP:0007364",
+ "HP:0000252",
"UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
+ "HP:0000240",
+ "GO:0050890",
"HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
"HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0046487",
"UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
"UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
"UPHENO:0052965",
+ "UPHENO:0002599",
"UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
"UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
+ "CL:0000015",
+ "CL:0000408",
"UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
"UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
"UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
"UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
"UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
"UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
"UBERON:0001333",
- "UBERON:0000056",
"UBERON:0036295",
- "UPHENO:0002806",
"UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
"HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
"UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
"HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
"HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
"UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
+ "UPHENO:0033587",
"UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
+ "UPHENO:0063515",
"UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
"UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
"UPHENO:0014240",
- "HP:0010987",
"UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
"HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
"UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
"UPHENO:0072332",
"UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
"UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
"UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
"HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
"UPHENO:0080087",
- "UPHENO:0005437",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
"UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
+ "UPHENO:0005513",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
"UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
"UBERON:0005726",
- "UPHENO:0005071",
+ "UPHENO:0005230",
+ "UBERON:0000004",
"HP:0005105",
"UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
"UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
"UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
"UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
"UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
+ "UPHENO:0004621",
"UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
"HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
"UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
+ "HP:0000520",
+ "UBERON:0003840",
"UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
"UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
"UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
"UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
"UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
"UPHENO:0075995",
- "UBERON:0005897",
"UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
"UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
"HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
"UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
"UPHENO:0049622",
"NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
+ "UPHENO:0002941",
"NBO:0000403",
- "UPHENO:0049699",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
"UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
"UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
"UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
"UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
"UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
"HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
"UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
"UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
"UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
"UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
+ "HP:0011994",
+ "UPHENO:0086857",
"UBERON:0002081",
- "UPHENO:0075208",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
"HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
+ "UBERON:0000473",
+ "HP:0011545",
"UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
"UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
"UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
"UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
"UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
"UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
"UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
+ "UPHENO:0002948",
+ "HP:0000347",
+ "UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
"UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
+ "HP:0000365",
"UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
+ "HP:0000478",
"UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
"UPHENO:0086866",
"UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
"UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
+ "HP:0004348",
+ "UPHENO:0046465",
"UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
"UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
"UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
"UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
+ "GO:0009888",
+ "UPHENO:0041041",
"UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
"HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
+ "UPHENO:0078347",
"HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
"UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
+ "GO:0007605",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
"HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
+ "HP:0002683",
"UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
"UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
+ "UPHENO:0049904",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
"UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
"UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
"UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
"UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
"UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
"UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
+ "UPHENO:0080300",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
"HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
"UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
"UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
+ "HP:0012443",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
"UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
"UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
"UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
+ "HP:0000366",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
"UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
+ "UBERON:0001890",
+ "UBERON:0019221",
+ "UBERON:0012141",
"HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
"UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
+ "UPHENO:0001025",
+ "UPHENO:0002952",
"UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
+ "UPHENO:0002903",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
+ "HP:0033127",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
"UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
+ "HP:0002060",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
+ "HP:0000957",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
+ "UPHENO:0081424",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
"UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
+ "UBERON:0002204",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
+ "UBERON:0004122",
+ "UPHENO:0002635",
+ "UBERON:0000173",
"UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
+ "UPHENO:0003811",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
"UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
"BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
+ "GO:0043473",
+ "UPHENO:0002585",
+ "UPHENO:0004064",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
+ "UBERON:0002416",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
"UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
"UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
"UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
"UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
+ "UBERON:0003129",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
"UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
+ "UBERON:0010758",
+ "UBERON:0001486",
+ "UPHENO:0002949",
"HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
+ "UBERON:0000467",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
"UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
"HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
+ "UBERON:0017672",
"HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
"UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
"UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UBERON:0000064",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
+ "UPHENO:0077391",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
"HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
+ "UPHENO:0084734",
+ "UPHENO:0049699",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
+ "UBERON:0000165",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
"UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
+ "UPHENO:0069327",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
+ "UPHENO:0002816",
+ "UPHENO:0002553",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
"UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
+ "HP:0000172",
+ "UPHENO:0002659",
"UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0005058",
+ "HP:0033353",
+ "UPHENO:0002732",
"UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
+ "UBERON:0011595",
+ "UBERON:0002553",
+ "UBERON:0002514",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
+ "UBERON:0001444",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
+ "HP:0000035",
+ "HP:0011842",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
+ "UPHENO:0002909",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
"UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
- "UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
- "HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
+ "HP:0010866",
+ "UPHENO:0015277",
+ "UBERON:0000025",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
"UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
- "UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
- "UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
"HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
"UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
+ "HP:0000119",
"UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
+ "UBERON:0010741",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
+ "HP:0001871",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
"UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
+ "UPHENO:0069047",
+ "UPHENO:0014971",
+ "UPHENO:0002964",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
+ "UBERON:0005893",
+ "UPHENO:0003413",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
+ "HP:0100790",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
+ "UPHENO:0003050",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
+ "UBERON:0002113",
+ "UBERON:0013702",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
+ "UBERON:0010000",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
+ "UBERON:5102389",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
+ "UBERON:0000475",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
+ "UPHENO:0075902",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
"HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
+ "UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
+ "UPHENO:0046505",
+ "UPHENO:0002859",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
+ "UPHENO:0002926",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
+ "GO:0048729",
+ "GO:0019953",
+ "UPHENO:0018390",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
+ "UPHENO:0002976",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
+ "UPHENO:0003049",
+ "UBERON:0004921",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
"UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
+ "UBERON:0002102",
+ "HP:0000277",
+ "UPHENO:0087006",
+ "GO:0003008",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
+ "UPHENO:0049874",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
"UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
+ "HP:0100542",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
"UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
+ "UPHENO:0069030",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
"RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UPHENO:0053632",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
+ "UBERON:0015212",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
+ "UBERON:0010538",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
+ "UBERON:0000062",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
+ "HP:0000079",
+ "UBERON:0012358",
+ "UPHENO:0003432",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
+ "UPHENO:0076703",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
+ "UPHENO:0041821",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
"UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002803",
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518",
],
"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
"Hypopigmented skin patches",
"serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
"decreased number of material anatomical entity in the multicellular organism",
"decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
"nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
"Abnormal immune system morphology",
"number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
+ "decreased number of anatomical structure",
"Abnormal leukocyte morphology",
- "homeostatic process phenotype",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
"Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
"decreased height of the multicellular organism",
"multicellular organism height phenotype",
"decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
"Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
+ "erythroid lineage cell morphology phenotype",
"blood cell phenotype",
- "bone cell",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "blood cell",
+ "erythrocyte differentiation",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
+ "radius bone",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormal cerebral morphology",
+ "size of skull phenotype",
"Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
"cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
"Scoliosis",
"Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
"size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
+ "decreased size of the orifice",
+ "immune system",
"immune system phenotype",
+ "cellular developmental process",
"Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
"absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
"absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
"absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
"male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
"localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
+ "localised gonad",
"male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
"urethra phenotype",
- "Abnormality of thrombocytes",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
"urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
"Abnormal ureter morphology",
- "Abnormality of the ureter",
"Hydroureter",
"excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
"Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
"abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
"reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
"incomplete closing of the ectoderm-derived structure",
"incomplete closing of the neural crest-derived structure",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
+ "incomplete closing of the secondary palate",
"increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
"increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
"increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "cerebrospinal fluid",
"cerebrospinal fluid phenotype",
"increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
"number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
"increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
"number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
"increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
"number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
"increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
"increased length of the anatomical structure",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
"anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
+ "aplasia or hypoplasia of radius bone",
"non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
"dentary",
- "dentary phenotype",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
"jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
"decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
"sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
"olfactory system",
"chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
+ "shape anatomical entity",
"naris atresia",
- "internal naris",
"naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
"cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
"neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
+ "incomplete closing of the organ",
"multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
"structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
+ "decreased sensory perception of sound",
"asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
"decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
+ "skeleton of limb phenotype",
+ "sensory perception",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
"opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
"lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
+ "anatomical entity height phenotype",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
"transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
"protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
"eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
"palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
"cranial nerve related reflex",
- "internal ear",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
"Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
+ "camera-type eye",
"Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
"internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
"female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
"bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
"hypothalamus-pituitary axis",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
"manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
"phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
"nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
"gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
+ "multi organ part structure phenotype",
+ "gland",
"decreased developmental process",
- "male gamete",
+ "decreased qualitatively anatomical structure development",
"multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
"Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
"umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
"Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
"amniotic fluid",
- "amniotic fluid phenotype",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
"organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
"organism substance",
+ "late embryo phenotype",
"Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
"late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
"incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "cardiac septum morphology phenotype",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
"Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "orbital region phenotype",
+ "layer of muscle tissue",
"decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
"decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
+ "heart layer morphology phenotype",
"heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
"organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
+ "decreased functionality of the organ part",
"myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
"mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
"incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
"conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
"incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
"anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
+ "uterus morphology phenotype",
"valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
+ "anatomical structure",
"heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
"left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
+ "Abnormality of the immune system",
"circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
"thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
"great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
"longitudinal arch of pes",
- "decreased number of anatomical structure",
"flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
"fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
"Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
"anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
+ "Growth abnormality",
+ "organ subunit",
"forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
+ "Abnormality of the ocular adnexa",
+ "tetrapod frontal bone morphology phenotype",
"limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
"increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
"dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
"cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
+ "olfactory organ phenotype",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
+ "increased size of the material anatomical entity",
+ "Abnormal brain morphology",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
+ "brain morphology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "increased size of the ectoderm-derived structure",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
"increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
"epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
"tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
+ "Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
"intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
"femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Neoplasm by anatomical site",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
"deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
+ "decreased size of the ectoderm-derived structure",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
"circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
"decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
"pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
"ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
+ "abdomen element physiology phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
+ "decreased size of the bone element",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
+ "Abnormality of thrombocytes",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
+ "axial skeleton plus cranial skeleton",
+ "Clinodactyly of the 5th finger",
"endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
+ "lower jaw region",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
"musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
"multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
"abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
"All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
"manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
+ "external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "homeostatic process",
+ "zone of skin morphology phenotype",
"autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
+ "musculoskeletal system phenotype",
+ "biological_process phenotype",
"anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "eyelid",
+ "sloped anatomical entity",
"decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
"Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
+ "multi-limb segment region phenotype",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
"skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
"skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
"biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
"developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
+ "arterial system",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
"multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
+ "abdominal segment element phenotype",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
"Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
+ "digit 5 plus metapodial segment",
+ "multicellular organism phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
"subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
+ "Abnormality of the upper limb",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
+ "shape digit",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
"Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
+ "localised testis",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "leukocyte",
+ "Finger syndactyly",
"decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
+ "Abnormality of the testis size",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
+ "Abnormality of the skin",
+ "nervous system",
+ "secretory cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
"Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
+ "abdomen",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
+ "forelimb endochondral element",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "localised material anatomical entity",
+ "decreased length of endochondral bone",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
"tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
+ "Abnormal forearm morphology",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
"pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
+ "arm bone phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
+ "decreased length of anatomical structure",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
"Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
+ "renal system",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
+ "deviation of manual digit 5",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
"articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
"incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
+ "musculature phenotype",
+ "forelimb zeugopod bone",
"opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
+ "renal system phenotype",
+ "multicellular anatomical structure phenotype",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
+ "intromittent organ phenotype",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
+ "compound organ phenotype",
+ "anatomical structure mass phenotype",
+ "appendicular skeleton",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
"parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
+ "Abnormality of the hand",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
+ "Abnormal shape of the frontal region",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
"tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
"central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
+ "Sloping forehead",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
"anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
+ "tube phenotype",
+ "forelimb skeleton",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
+ "hemopoiesis",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
+ "abdominal segment element",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
+ "limb",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
+ "trunk phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
+ "Decreased fertility in males",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
+ "anatomical conduit phenotype",
+ "Abnormal foot morphology",
+ "digestive system element",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "mesoderm-derived structure phenotype",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
+ "growth",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
+ "aplasia or hypoplasia of skull",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
+ "organ",
+ "pedal digit bone",
+ "autopod endochondral element",
+ "trunk region element",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
+ "mesoderm-derived structure",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
+ "skeletal joint dislocation",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
+ "nervous system cell part layer",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal enteric nervous system morphology",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
"Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
+ "homeostatic process phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
+ "neural tube",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
+ "embryo phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
+ "decreased size of the anatomical structure",
+ "Abnormal nasal morphology",
+ "Abnormality of the cardiovascular system",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
+ "alimentary part of gastrointestinal system",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
+ "pes bone",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
+ "Abnormality of the upper urinary tract",
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
"Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype",
],
"has_phenotype_count": 106,
"highlight": None,
"score": None,
},
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "full_name": None,
- "deprecated": None,
- "description": "Fanconi syndrome that occurs in dog.",
- "xref": ["OMIA:000366-9615"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": None,
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
{
"id": "MONDO:0007600",
"category": "biolink:Disease",
@@ -4358,1644 +4198,1512 @@ def search():
"Renal phosphate wasting",
],
"has_phenotype_closure": [
+ "UPHENO:0051900",
"HP:0000117",
- "UPHENO:0000541",
+ "HP:0001510",
+ "HP:0025745",
+ "CHEBI:33709",
"UPHENO:0051739",
- "HP:0040156",
+ "HP:0002909",
"UPHENO:0068144",
- "UPHENO:0068491",
- "HP:0012072",
"UPHENO:0046286",
- "CHEBI:33839",
- "HP:0020129",
+ "HP:0003076",
+ "UPHENO:0080658",
+ "UPHENO:0068054",
"CHEBI:15841",
- "HP:0000093",
- "HP:0003126",
- "HP:0001992",
"CHEBI:33256",
- "CHEBI:37622",
+ "HP:0020129",
"UPHENO:0051608",
"UPHENO:0068024",
- "UPHENO:0051714",
- "CHEBI:17544",
+ "HP:0003149",
+ "HP:0011279",
"UPHENO:0051619",
+ "HP:6000531",
+ "HP:0003646",
+ "UPHENO:0051714",
+ "HP:0033354",
+ "UPHENO:0066964",
+ "UPHENO:0003941",
+ "UPHENO:0066925",
"CHEBI:35604",
- "UPHENO:0024906",
- "CHEBI:16541",
+ "HP:0001947",
+ "UPHENO:0002248",
+ "UBERON:0006555",
"UPHENO:0004791",
+ "UPHENO:0002210",
+ "UPHENO:0005141",
"UPHENO:0003430",
- "UBERON:0000479",
- "CHEBI:33709",
+ "UPHENO:0051635",
+ "UPHENO:0066943",
"UPHENO:0066960",
- "UPHENO:0066964",
+ "UPHENO:0066950",
+ "UPHENO:0066954",
"UBERON:0009773",
"UBERON:0007684",
- "UPHENO:0066927",
+ "UBERON:0004211",
+ "UBERON:0000483",
"UPHENO:0066913",
"UPHENO:0002564",
- "UPHENO:0066951",
- "UBERON:0006555",
- "UPHENO:0003381",
- "UPHENO:0005201",
+ "UBERON:0001285",
+ "UPHENO:0002311",
+ "UPHENO:0002287",
+ "UBERON:0003914",
"UBERON:0004819",
- "UPHENO:0066946",
"HP:0004910",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0000483",
- "UPHENO:0003941",
+ "UPHENO:0005285",
+ "HP:0000124",
"HP:0004360",
- "HP:0001942",
- "HP:0001941",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0003011",
+ "UPHENO:0002252",
+ "UBERON:0001630",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
"UPHENO:0003047",
+ "UPHENO:0024906",
"HP:0011804",
- "UBERON:0005090",
- "HP:0001824",
- "UPHENO:0010799",
- "HP:0001995",
- "UPHENO:0010795",
- "GO:0040007",
+ "HP:0001324",
+ "UPHENO:0054374",
+ "UPHENO:0054304",
"UPHENO:0054315",
+ "UPHENO:0010850",
+ "HP:0004323",
+ "UPHENO:0010795",
+ "UPHENO:0049874",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "HP:0001507",
+ "HP:0012531",
"HP:0002653",
- "CHEBI:36914",
+ "UPHENO:0081440",
+ "HP:0002659",
+ "HP:0002749",
+ "UPHENO:0068491",
+ "CHEBI:24835",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
+ "UPHENO:0034199",
+ "UPHENO:0002246",
+ "HP:0003111",
"CHEBI:36915",
- "HP:0010930",
+ "CHEBI:22860",
+ "CHEBI:36916",
+ "BFO:0000002",
"HP:0002900",
- "UPHENO:0089756",
- "UPHENO:0068296",
- "HP:0033354",
+ "CHEBI:36914",
+ "HP:0010929",
"CHEBI:26216",
- "HP:0003081",
- "CHEBI:33674",
- "CHEBI:22563",
- "UPHENO:0005285",
- "GO:0043227",
- "UPHENO:0089739",
- "UPHENO:0084541",
- "HP:0010966",
- "HP:0002909",
- "CHEBI:36586",
- "CHEBI:18059",
- "UPHENO:0082794",
- "CHEBI:64709",
+ "UPHENO:0051849",
"HP:0003287",
- "CHEBI:17126",
+ "HP:0010935",
+ "CHEBI:35605",
+ "CHEBI:16541",
+ "GO:0005622",
+ "UBERON:0000489",
+ "CHEBI:26020",
"GO:0005737",
+ "GO:0043231",
"GO:0043226",
- "HP:0003234",
+ "UPHENO:0077817",
"UPHENO:0034319",
- "UPHENO:0084537",
+ "HP:0012103",
+ "UPHENO:0086172",
+ "HP:0032180",
+ "HP:0012598",
+ "CHEBI:25741",
+ "CHEBI:33521",
+ "CHEBI:27369",
+ "UPHENO:0051628",
+ "UPHENO:0089735",
+ "UPHENO:0051881",
"CHEBI:33608",
- "CHEBI:25696",
- "CHEBI:24651",
+ "HP:0011015",
"CHEBI:33273",
- "CHEBI:25741",
- "HP:0011279",
- "GO:0043231",
- "UPHENO:0051979",
- "CHEBI:24835",
- "GO:0110165",
- "CHEBI:35284",
+ "GO:0005575",
"UPHENO:0046337",
- "UPHENO:0082761",
- "HP:0012531",
- "CHEBI:36587",
- "HP:0012610",
- "CHEBI:51151",
+ "UBERON:0000174",
"CHEBI:35406",
- "GO:0005575",
- "HP:0004359",
- "CHEBI:24833",
- "UPHENO:0051881",
- "CHEBI:26469",
- "HP:0002749",
+ "GO:0005623",
+ "UPHENO:0051777",
+ "CHEBI:17126",
+ "CHEBI:51143",
+ "CHEBI:25384",
+ "CHEBI:83821",
+ "HP:0012599",
+ "CHEBI:28868",
"CHEBI:35281",
- "CHEBI:35366",
"CHEBI:33575",
- "UPHENO:0089745",
- "HP:0002157",
- "UPHENO:0010850",
- "HP:0011843",
- "CHEBI:35605",
- "HP:0004364",
- "UBERON:0001630",
- "HP:0025142",
- "CHEBI:33672",
- "CHEBI:24532",
- "CHEBI:33659",
- "HP:0010932",
- "CHEBI:25810",
+ "GO:0043227",
+ "CHEBI:35757",
+ "UPHENO:0051979",
+ "HP:0003234",
+ "HP:0003119",
+ "CHEBI:33674",
+ "CHEBI:25699",
+ "UPHENO:0068296",
+ "CHEBI:22563",
+ "CHEBI:36358",
+ "HP:0010966",
+ "UPHENO:0081550",
+ "HP:0004359",
+ "HP:0004354",
+ "UPHENO:0077826",
"UPHENO:0068251",
- "UPHENO:0046383",
- "HP:6000531",
- "UPHENO:0051736",
- "CHEBI:72695",
- "CHEBI:35875",
+ "CHEBI:35352",
+ "CHEBI:33671",
+ "HP:0032943",
+ "CHEBI:24532",
+ "HP:0004364",
+ "UPHENO:0000541",
+ "HP:0003081",
"UPHENO:0068442",
- "CHEBI:33655",
+ "UPHENO:0066939",
+ "UPHENO:0089745",
+ "HP:0002157",
"CHEBI:33636",
- "UPHENO:0068064",
+ "CHEBI:33635",
+ "UPHENO:0002636",
"CHEBI:33832",
+ "CHEBI:27226",
+ "HP:0003110",
+ "CHEBI:25810",
+ "CHEBI:35366",
+ "UPHENO:0087433",
+ "CHEBI:35875",
+ "UPHENO:0046283",
"CHEBI:27171",
- "CHEBI:33833",
"CHEBI:38101",
- "UPHENO:0010808",
- "UPHENO:0066781",
- "HP:0002049",
- "CHEBI:24867",
- "CHEBI:37577",
- "UPHENO:0002964",
- "CHEBI:33635",
- "HP:0033127",
- "HP:0025354",
+ "UPHENO:0068134",
+ "CHEBI:33833",
+ "UBERON:0004765",
+ "CHEBI:24870",
+ "UPHENO:0002642",
+ "UPHENO:0034276",
+ "CHEBI:33259",
+ "CHEBI:36357",
"HP:0003330",
- "UBERON:0001434",
+ "HP:0004349",
+ "CHEBI:36587",
+ "CHEBI:33655",
+ "CHEBI:50047",
+ "HP:0000924",
+ "UBERON:0013701",
+ "CHEBI:33302",
+ "HP:0001942",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "UPHENO:0082544",
+ "UPHENO:0082835",
+ "CHEBI:25696",
+ "UPHENO:0002346",
"HP:0011849",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "CHEBI:32988",
+ "HP:0010930",
"HP:0004912",
- "UPHENO:0004459",
- "UPHENO:0050433",
- "UPHENO:0002554",
- "UPHENO:0066921",
- "CHEBI:33304",
+ "CHEBI:26082",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "GO:0043229",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0089770",
+ "GO:0008150",
+ "UPHENO:0068064",
+ "UPHENO:0002559",
+ "CHEBI:36360",
+ "HP:0004348",
+ "CHEBI:24867",
+ "CHEBI:33238",
"UPHENO:0066739",
- "CHEBI:33582",
- "HP:0001510",
- "UBERON:0002390",
- "UPHENO:0081440",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "BFO:0000040",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002210",
- "UPHENO:0002783",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "CHEBI:26708",
+ "HP:0012606",
+ "CHEBI:22314",
+ "HP:0012603",
+ "UPHENO:0002909",
+ "UPHENO:0050619",
+ "HP:0011842",
+ "GO:0065008",
+ "UPHENO:0050064",
+ "GO:0001503",
+ "UPHENO:0051712",
+ "UPHENO:0050065",
+ "HP:0011032",
+ "UPHENO:0003432",
+ "HP:0002049",
+ "UPHENO:0081544",
+ "HP:0010932",
+ "UPHENO:0004503",
+ "CHEBI:33559",
+ "UBERON:0015212",
+ "CHEBI:33318",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "UPHENO:0051686",
+ "UPHENO:0089294",
+ "HP:0002206",
+ "UBERON:0002204",
+ "HP:0002150",
+ "UPHENO:0051766",
+ "HP:0001944",
+ "UPHENO:0002734",
+ "CHEBI:22984",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "HP:0010967",
+ "UPHENO:0084537",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "HP:0000093",
+ "UPHENO:0046344",
"UPHENO:0002530",
- "CHEBI:27226",
- "HP:0000118",
- "CHEBI:18282",
- "UBERON:0000061",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0005177",
- "CHEBI:26082",
- "UBERON:0000062",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "CHEBI:36358",
- "HP:0011280",
- "UPHENO:0002269",
- "UPHENO:0066959",
- "UPHENO:0081581",
+ "UBERON:0001088",
+ "UPHENO:0002816",
+ "CHEBI:51151",
+ "UPHENO:0051709",
+ "UPHENO:0051887",
+ "UPHENO:0068110",
+ "HP:0002795",
+ "HP:0000077",
+ "HP:0011014",
+ "UPHENO:0002386",
+ "CHEBI:26469",
+ "UPHENO:0002360",
+ "HP:0003355",
+ "UPHENO:0049587",
"UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0089764",
"UBERON:0004122",
- "GO:0042592",
- "CHEBI:27369",
- "UPHENO:0002679",
- "HP:0004918",
- "UPHENO:0049874",
- "UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0068565",
- "CHEBI:25699",
- "CHEBI:33241",
- "UPHENO:0002385",
- "GO:0008152",
- "UPHENO:0082544",
- "CHEBI:22860",
- "UPHENO:0002427",
- "GO:0050878",
- "UPHENO:0084542",
- "CL:0000000",
- "HP:0002748",
- "UPHENO:0076294",
- "CHEBI:24870",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "UPHENO:0068169",
- "BFO:0000002",
- "HP:0004325",
- "HP:0012103",
- "BFO:0000001",
- "UPHENO:0051645",
- "UPHENO:0002949",
- "CHEBI:78616",
- "UPHENO:0054374",
- "GO:0005623",
- "UPHENO:0003025",
- "UPHENO:0066943",
"HP:0100529",
- "UPHENO:0003088",
- "UPHENO:0048750",
- "HP:0002659",
- "UPHENO:0001002",
- "HP:0003076",
- "HP:0003011",
- "HP:0001324",
- "HP:0001939",
- "UPHENO:0050619",
- "UBERON:0001558",
- "HP:0010996",
- "UPHENO:0089735",
- "CHEBI:33675",
- "HP:0000124",
- "CHEBI:35757",
- "CHEBI:26079",
- "CHEBI:22984",
- "HP:0011032",
- "CHEBI:33595",
- "UPHENO:0087433",
- "CHEBI:33302",
- "CHEBI:29067",
- "UPHENO:0046284",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0051849",
- "UBERON:0002100",
"HP:0000119",
- "UPHENO:0068054",
- "HP:0010929",
- "HP:0006530",
- "UPHENO:0066954",
+ "CHEBI:33595",
+ "UPHENO:0002422",
+ "UBERON:0005173",
+ "UBERON:0000179",
"HP:0012211",
- "HP:0004348",
- "UPHENO:0002448",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:35352",
+ "UPHENO:0034351",
+ "HP:0012622",
+ "HP:0012610",
+ "UPHENO:0003093",
+ "UPHENO:0005092",
+ "HP:0000118",
"UPHENO:0076286",
- "UBERON:0005181",
+ "UPHENO:0002832",
+ "UPHENO:0046281",
+ "UPHENO:0046284",
"UPHENO:0002803",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "HP:0003149",
- "UPHENO:0054304",
- "CHEBI:60242",
- "GO:0001503",
- "HP:0011013",
- "CHEBI:16646",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051628",
- "UBERON:0011676",
- "CHEBI:26708",
- "GO:0008150",
- "UPHENO:0004503",
- "UBERON:0000383",
- "UBERON:8450002",
- "UPHENO:0051804",
- "UPHENO:0002574",
- "GO:0005622",
- "UPHENO:0006889",
- "HP:0430071",
- "UBERON:0000475",
- "UPHENO:0082835",
- "UPHENO:0003084",
- "UBERON:0002075",
- "UPHENO:0076692",
- "HP:0000001",
- "UPHENO:0068036",
- "UPHENO:0084654",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0050433",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
"UPHENO:0079822",
- "UBERON:0000467",
- "BFO:0000003",
- "UPHENO:0051887",
- "HP:0012598",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0003086",
- "UPHENO:0002536",
- "UBERON:0004119",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0003094",
- "UPHENO:0034276",
- "UPHENO:0002526",
- "CHEBI:36916",
- "UBERON:0005173",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0049628",
- "CHEBI:26401",
- "UBERON:0000178",
- "CHEBI:51143",
- "UPHENO:0046356",
- "HP:0010967",
- "UBERON:0013702",
- "HP:0004323",
+ "CHEBI:36963",
+ "CHEBI:33285",
+ "CHEBI:64709",
"UPHENO:0089737",
- "UPHENO:0084472",
- "HP:0002086",
- "HP:0002206",
- "UPHENO:0076299",
- "UBERON:0005178",
- "CHEBI:18133",
- "CHEBI:36962",
- "GO:0005739",
- "UBERON:0001088",
- "UPHENO:0046281",
- "UBERON:0001062",
- "UPHENO:0002248",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0050064",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UBERON:0001285",
- "UPHENO:0002320",
- "PATO:0000001",
- "HP:0011842",
- "HP:0003646",
- "HP:0032943",
- "UBERON:0001015",
- "UPHENO:0002859",
- "UBERON:0000065",
- "UPHENO:0034199",
- "CHEBI:25806",
- "UBERON:0004111",
- "UPHENO:0077817",
- "UPHENO:0002648",
- "UPHENO:0002422",
- "CHEBI:50860",
- "UPHENO:0051712",
- "HP:0012622",
- "UBERON:0000064",
- "CHEBI:16670",
"UBERON:0000170",
- "HP:0011042",
- "HP:0003537",
- "HP:0011014",
+ "HP:0012591",
"UPHENO:0002525",
- "HP:0032180",
- "BFO:0000004",
- "HP:0011015",
- "UPHENO:0081550",
- "HP:0003110",
- "UBERON:0000072",
- "UPHENO:0002287",
- "BFO:0000020",
- "UBERON:0013701",
- "UPHENO:0002377",
- "UPHENO:0002360",
- "HP:0011017",
- "HP:0002150",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002988",
- "UPHENO:0002634",
- "HP:0031980",
- "UBERON:0000025",
- "HP:0002795",
- "UBERON:0005172",
- "HP:0002088",
- "UPHENO:0051900",
- "HP:0000077",
- "GO:0043229",
- "GO:0032501",
- "CHEBI:24431",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0002252",
- "UPHENO:0086908",
- "GO:0048878",
"CHEBI:33579",
- "UPHENO:0002926",
- "HP:0003774",
- "HP:0001947",
- "HP:0004354",
- "GO:0042593",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:35381",
- "UPHENO:0084653",
- "CHEBI:15693",
- "HP:0001944",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "UPHENO:0002386",
- "HP:0012606",
- "CHEBI:36963",
- "HP:0001871",
- "CHEBI:38166",
- "HP:0001943",
- "UPHENO:0051763",
- "UPHENO:0050791",
- "UPHENO:0080556",
- "GO:0033500",
- "UPHENO:0002442",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "UPHENO:0002909",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004211",
- "CHEBI:33238",
- "UBERON:0002417",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0086908",
+ "BFO:0000040",
"UBERON:0002113",
- "UPHENO:0081544",
- "CHEBI:23367",
- "UPHENO:0075902",
- "UBERON:0003914",
+ "UPHENO:0002532",
+ "UPHENO:0046348",
+ "UPHENO:0048707",
+ "HP:0001939",
+ "HP:0001941",
+ "HP:0002088",
+ "GO:0008152",
+ "UPHENO:0048750",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0089764",
"UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "CHEBI:33671",
- "UPHENO:0003093",
+ "UPHENO:0003084",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "GO:0042592",
+ "CHEBI:33839",
+ "CHEBI:38166",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0006314",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UPHENO:0068565",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0066951",
+ "CHEBI:17234",
+ "CHEBI:35381",
+ "UPHENO:0002426",
+ "CHEBI:16646",
+ "UPHENO:0066781",
+ "UPHENO:0002870",
+ "BFO:0000003",
"HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0076299",
+ "HP:0003126",
+ "UPHENO:0051763",
+ "GO:0110165",
+ "UPHENO:0001002",
+ "UPHENO:0076294",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UPHENO:0068169",
+ "GO:0050878",
+ "UBERON:0013522",
+ "UBERON:0005181",
"UPHENO:0002308",
- "HP:0011277",
- "CHEBI:33318",
+ "UPHENO:0002783",
+ "CHEBI:17544",
+ "CHEBI:33659",
+ "BFO:0000015",
+ "HP:0006530",
+ "HP:0001824",
+ "UPHENO:0002731",
+ "CHEBI:24431",
+ "UBERON:0000065",
+ "HP:0033127",
+ "UBERON:0000072",
"UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0002377",
+ "UPHENO:0084542",
+ "CHEBI:26079",
+ "CHEBI:33917",
+ "HP:0011017",
+ "GO:0040007",
+ "HP:0011280",
+ "UBERON:0000475",
+ "UPHENO:0002448",
+ "UPHENO:0010808",
+ "GO:0005739",
+ "UBERON:0000178",
+ "UBERON:0002417",
+ "GO:0065007",
+ "UBERON:0005090",
+ "HP:0012337",
+ "UBERON:0003103",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UPHENO:0002267",
+ "UBERON:0001558",
+ "UPHENO:0002442",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "CHEBI:78616",
+ "UPHENO:0003413",
+ "UPHENO:0002574",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "HP:0011042",
+ "UBERON:0000062",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0049628",
+ "UPHENO:0006889",
+ "UPHENO:0051960",
+ "HP:0001943",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:16670",
+ "CHEBI:35284",
"UPHENO:0002976",
- "UPHENO:0066903",
+ "CHEBI:24651",
+ "UPHENO:0003086",
+ "UBERON:0001005",
+ "UBERON:0000025",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0046383",
+ "UPHENO:0051645",
+ "UPHENO:0076703",
+ "UBERON:0005177",
+ "CHEBI:36586",
+ "UPHENO:0034253",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "CHEBI:18133",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0084472",
+ "UPHENO:0051736",
+ "UPHENO:0001003",
+ "UBERON:0000465",
+ "UPHENO:0002859",
+ "UBERON:0002075",
+ "HP:0025354",
+ "GO:0048878",
+ "CHEBI:23367",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "CHEBI:33672",
+ "CHEBI:37622",
"UPHENO:0002359",
- "HP:0001507",
- "CHEBI:83821",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UBERON:0002048",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0000383",
"HP:0000079",
- "CHEBI:28868",
- "UBERON:0013522",
- "UPHENO:0002426",
- "UPHENO:0004418",
- "UBERON:0006314",
+ "UPHENO:0050791",
+ "UPHENO:0003025",
+ "UBERON:0013702",
+ "UPHENO:0089739",
+ "CHEBI:25806",
+ "UPHENO:0046356",
+ "UPHENO:0000543",
+ "UBERON:0000463",
+ "CL:0000000",
+ "GO:0042593",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "HP:0430071",
+ "UBERON:0000467",
+ "CHEBI:33582",
+ "UPHENO:0068036",
+ "UPHENO:0003094",
+ "UBERON:0004119",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "CHEBI:29067",
+ "CHEBI:72695",
+ "UPHENO:0004536",
+ "UBERON:0002100",
+ "CHEBI:25367",
+ "UPHENO:0080555",
+ "UPHENO:0082761",
+ "UBERON:0000915",
+ "UBERON:0034925",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0066927",
+ "CHEBI:26401",
"UBERON:0011143",
- "UPHENO:0066925",
- "HP:0012591",
+ "UPHENO:0084541",
+ "CHEBI:60242",
"CHEBI:5686",
- "UPHENO:0004505",
- "UBERON:0002048",
- "UPHENO:0046344",
- "UBERON:0001005",
- "UPHENO:0048707",
- "UPHENO:0002346",
+ "UBERON:0002390",
+ "CHEBI:18282",
+ "UPHENO:0010763",
+ "HP:0000001",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "HP:0011843",
"UPHENO:0002531",
- "CHEBI:33521",
- "UPHENO:0051777",
- "UBERON:0000489",
- "UPHENO:0068110",
- "UPHENO:0002754",
- "UPHENO:0068134",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0051766",
- "CHEBI:33917",
- "CHEBI:22313",
- "UPHENO:0086172",
- "GO:0065007",
- "GO:0065008",
- "HP:0012599",
- "UPHENO:0050065",
- "HP:0012603",
- "UPHENO:0034351",
- "UPHENO:0051709",
- "CHEBI:25384",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0004765",
- "HP:0000924",
- "UBERON:0000465",
- "UBERON:0001008",
- "UBERON:0002204",
- "HP:0003355",
- "CHEBI:36359",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "HP:0003119",
- "CHEBI:36360",
- "UBERON:0010000",
- "UBERON:0000174",
"UBERON:0001474",
- "UPHENO:0066950",
- "UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0066939",
- "UPHENO:0010763",
- "CHEBI:33259",
+ "UPHENO:0004459",
+ "HP:0010996",
+ "CHEBI:24833",
+ "UPHENO:0066903",
+ "UPHENO:0002963",
+ "CHEBI:15693",
+ "HP:0003537",
+ "UPHENO:0002679",
+ "HP:0011277",
+ "GO:0033500",
+ "UPHENO:0002668",
+ "CHEBI:18059",
+ "BFO:0000004",
],
"has_phenotype_closure_label": [
"Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
"Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
+ "Proximal renal tubular acidosis",
"increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
"increased level of carboxylic acid in urine",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "urine amino acid level phenotype",
"Glycosuria",
"increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
+ "peptide",
+ "carboxamide",
+ "increased level of protein polypeptide chain in urine",
+ "amide",
"macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
+ "increased level of uric acid in urine",
+ "Abnormality of urinary uric acid level",
+ "urine uric acid level phenotype",
+ "increased level of hydrogencarbonate in urine",
"hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
+ "urine hydrogencarbonate level phenotype",
+ "carbon oxoanion",
+ "Abnormal urine metabolite level",
+ "Bicarbonaturia",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "decreased functionality of the renal tubule",
"decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
"excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
"decreased functionality of the multicellular anatomical structure",
+ "nephron tubule",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the kidney epithelium",
+ "Renal tubular acidosis",
+ "excretory tube phenotype",
+ "epithelium physiology phenotype",
+ "decreased functionality of the tube",
+ "uriniferous tubule",
+ "nephron epithelium",
"anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "decreased functionality of the anatomical conduit",
"excretory tube",
- "kidney epithelium",
+ "decreased functionality of the epithelial tube",
+ "decreased functionality of the tissue",
"tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
+ "tissue phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the excretory tube",
+ "nephron phenotype",
+ "kidney epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Renal tubular dysfunction",
+ "Abnormality of acid-base homeostasis",
"Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
+ "Hyperchloremic metabolic acidosis",
+ "Abnormal muscle physiology",
"Abnormality of the musculature",
- "muscle organ",
+ "muscle structure",
+ "muscle structure phenotype",
+ "epithelial tube",
"muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Decreased anatomical entity mass",
+ "Generalized aminoaciduria",
"Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
"anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
+ "urine phosphate level phenotype",
"anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
"multicellular organism mass phenotype",
- "Pain",
+ "muscle organ physiology phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "delayed biological_process",
+ "Abnormality of body weight",
+ "Weight loss",
+ "decreased material anatomical entity mass",
"Constitutional symptom",
+ "Bone pain",
"musculoskeletal system physiology phenotype",
"Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
+ "viscus phenotype",
+ "decreased level of potassium atom in blood",
+ "Hypoglycemia",
+ "inorganic molecular entity",
+ "renal/urinary system phenotype",
+ "Hypokalemia",
+ "primary amide",
+ "role blood level phenotype",
"blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
+ "cation",
+ "inorganic ion",
"Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
"potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
+ "organonitrogen heterocyclic compound",
+ "Abnormal urine potassium concentration",
+ "organic anion",
+ "Increased urinary potassium",
+ "lung phenotype",
+ "acid bodily fluid level phenotype",
+ "oxide",
"decreased level of amino-acid betaine",
- "cytoplasm",
+ "decreased functionality of the epithelium",
"amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
+ "carnitine",
+ "carbon group molecular entity",
"amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
+ "abdominal segment element",
+ "ammonium betaine",
"fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
+ "alkaline earth metal atom",
+ "decreased level of carnitine in blood",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "blood carboxylic acid level phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "growth phenotype",
+ "Abnormality of bone mineral density",
"oxoacid",
- "increased level of hydrogencarbonate in urine",
+ "amino acid derivative level phenotype",
+ "cell",
"carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
- "hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
- "organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "obsolete cell",
+ "fatty acid level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "organic ion",
+ "Abnormal blood potassium concentration",
+ "glucose",
+ "mitochondrion",
+ "blood monocarboxylic acid level phenotype",
+ "hydroxides",
+ "abdomen",
+ "polyatomic anion",
+ "Renal insufficiency",
+ "Abnormal circulating fatty-acid anion concentration",
+ "Abnormal urine amino acid level",
"organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
+ "decreased level of purines",
+ "blood cation level phenotype",
+ "cellular_component phenotype",
+ "nucleobase",
+ "organic heterobicyclic compound",
+ "Abnormal circulating organic compound concentration",
"aromatic compound",
- "decreased anatomical structure mass",
"heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
- "blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
- "musculoskeletal system phenotype",
- "monoatomic ion",
- "monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
- "anatomical entity mass density phenotype",
- "phosphoric acid derivative",
+ "organic cyclic compound",
+ "cytoplasm",
"Abnormal circulating nucleobase concentration",
- "monosaccharide",
- "haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
- "chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
+ "Low-molecular-weight proteinuria",
+ "monocarboxylic acid",
+ "tube phenotype",
+ "organic heterocyclic compound",
+ "increased level of purines",
+ "skeletal system morphology phenotype",
+ "oxopurine",
"organic molecular entity",
- "Pulmonary fibrosis",
- "main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
- "metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
- "Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
+ "intracellular membrane-bounded organelle",
"organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
+ "Hypouricemia",
"nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
+ "Abnormal circulating lipid concentration",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "dipolar compound",
+ "nitrogen molecular entity level phenotype",
+ "nephron epithelium phenotype",
+ "molecule",
+ "blood carnitine level phenotype",
+ "organic oxo compound",
+ "decreased role blood level",
+ "Abnormal blood phosphate concentration",
+ "cyclic compound",
+ "blood nucleobase level phenotype",
+ "Abnormality of mitochondrial metabolism",
"blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
"skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "blood potassium atom level phenotype",
+ "Abnormal bone structure",
+ "musculature",
+ "multicellular organismal process",
+ "abdominal segment element physiology phenotype",
+ "ion",
+ "carboxylic acid anion",
+ "elemental molecular entity",
+ "heteropolycyclic compound",
+ "polyatomic entity",
+ "protein polypeptide chain",
+ "ossification",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "phosphorus molecular entity",
+ "musculature of body",
+ "phosphorus oxoacids and derivatives",
+ "phosphoric acid derivative",
+ "Decreased anatomical entity mass density",
+ "body proper",
+ "lipid level phenotype",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "monoatomic entity",
+ "increased level of chemical entity",
+ "quaternary nitrogen compound",
+ "Reduced bone mineral density",
+ "Abnormal bone ossification",
+ "blood uric acid level phenotype",
+ "Stage 5 chronic kidney disease",
+ "cellular anatomical structure",
+ "Abnormality of the mitochondrion",
+ "Rickets",
+ "Hypophosphatemic rickets",
+ "pnictogen molecular entity",
"Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
+ "Decreased bone element mass density",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "Abnormality of the musculoskeletal system",
+ "anatomical entity mass density phenotype",
+ "urine glucose level phenotype",
+ "sodium atom level phenotype",
+ "alkali metal atom",
+ "decreased level of chemical entity",
+ "Renal sodium wasting",
+ "sodium atom",
+ "polyatomic ion",
+ "urine sodium atom level phenotype",
+ "intracellular organelle",
+ "Abnormality of fluid regulation",
+ "renal tubule",
+ "decreased level of phosphate in blood",
+ "biological regulation phenotype",
"increased level of chemical entity in blood",
- "anatomical entity fibrosis",
+ "decreased functionality of the anatomical entity",
+ "regulation of body fluid levels phenotype",
+ "material anatomical entity mass phenotype",
+ "bodily fluid phenotype",
+ "cellular_component",
+ "organelle",
+ "regulation of biological quality",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "polypeptide",
+ "homeostatic process",
+ "regulation of biological quality phenotype",
"skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
+ "intracellular anatomical structure",
+ "increased level of chemical entity in urine",
+ "abdomen element",
+ "increased level of potassium atom in urine",
+ "increased level of calcium atom in urine",
+ "blood fatty acid level phenotype",
+ "Abnormal urine pH",
"Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
+ "excreta",
+ "organic amino compound",
+ "calcium atom level phenotype",
+ "s-block element atom",
+ "membrane-bounded organelle",
+ "blood glucose level phenotype",
+ "urine",
+ "musculoskeletal system",
+ "increased urine role level",
+ "oxoanion",
+ "carbohydrate",
+ "cavitated compound organ phenotype",
+ "Abnormality of urine calcium concentration",
+ "mitochondrion phenotype",
+ "process",
+ "urine calcium atom level phenotype",
+ "Hyperuricosuria",
+ "abdomen element physiology phenotype",
+ "purines",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "Osteomalacia",
+ "polycyclic compound",
+ "upper urinary tract phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormal pulmonary interstitial morphology",
"Acidosis",
- "phenotype",
+ "compound organ physiology phenotype",
+ "Pulmonary fibrosis",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "organism substance phenotype",
+ "organ system subdivision",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "renal system",
+ "Abnormality of the urinary system",
+ "chemical homeostasis phenotype",
+ "phosphate",
+ "excretory system",
+ "Abnormal lung morphology",
+ "skeletal element phenotype",
+ "kidney phenotype",
+ "Abnormality of urine homeostasis",
+ "growth",
+ "organ system subdivision phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "trunk region element physiology phenotype",
"thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
+ "monosaccharide",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of urine bicarbonate level",
+ "haemolymphatic fluid",
+ "chemical homeostasis",
+ "role bodily fluid level phenotype",
+ "Abnormal urinary organic compound level",
+ "amino-acid derivative",
+ "cellular process",
+ "renal system physiology phenotype",
+ "urine potassium atom level phenotype",
+ "anatomical structure phenotype",
+ "respiratory tract",
+ "chemical entity level phenotype",
+ "fatty acid",
+ "hydrogen molecular entity",
+ "Azotemia",
+ "subdivision of tube phenotype",
+ "chemical entity",
+ "bodily fluid",
+ "bone element mass density phenotype",
+ "regulation of body fluid levels",
+ "main group molecular entity",
+ "metabolic process",
+ "upper urinary tract",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
- "anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
+ "amino acid level phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal blood glucose concentration",
+ "abdominal segment element phenotype",
+ "glucose homeostasis",
+ "multicellular organism",
+ "delayed growth",
+ "oxygen molecular entity",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "hematopoietic system phenotype",
+ "decreased muscle organ strength",
+ "glucose homeostasis phenotype",
+ "organochalcogen compound",
+ "viscus",
+ "abdomen element phenotype",
+ "Dehydration",
+ "heteroorganic entity",
"organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
+ "thoracic segment organ phenotype",
+ "biological regulation",
+ "main group element atom",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "Abnormal glucose homeostasis",
+ "heterobicyclic compound",
+ "phenotypic effect",
+ "hexose",
+ "potassium atom",
+ "blood",
+ "lung morphology phenotype",
"subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
+ "occurrent",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "muscle organ",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "multicellular organism chemical entity level phenotype",
+ "haemolymphatic fluid phenotype",
+ "blood fatty acid anion level phenotype",
+ "carbohydrate homeostasis",
+ "organism substance",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "p-block molecular entity",
+ "Abnormal cellular physiology",
+ "organic aromatic compound",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "anatomical structure",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical collection",
+ "anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "heteroarene",
"atom",
+ "decreased level of uric acid in blood",
+ "lateral structure phenotype",
+ "blood carbohydrate level phenotype",
+ "kidney epithelium",
+ "Pain",
+ "trunk phenotype",
"anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
+ "epithelial tube physiology phenotype",
+ "material entity",
+ "anatomical entity fibrosis",
+ "anatomical system",
+ "organooxygen compound",
+ "trunk",
"multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
+ "independent continuant",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "abdominal segment of trunk",
+ "Bicarbonate-wasting renal tubular acidosis",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
+ "molecular entity",
+ "anion",
+ "Abnormality of the kidney",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "bone element",
+ "calcium atom",
+ "homeostatic process phenotype",
"inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
+ "Abnormal circulating carnitine concentration",
+ "lung fibrosis",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
+ "All",
+ "blood phenotype",
"multicellular anatomical structure",
- "blood",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "Abnormal respiratory system morphology",
+ "material anatomical entity phenotype",
+ "uric acid",
+ "anatomical entity physiology phenotype",
+ "monovalent inorganic cation",
+ "subdivision of organism along main body axis phenotype",
+ "hydrogencarbonate",
+ "respiratory system physiology phenotype",
+ "organ phenotype",
+ "hemolymphoid system",
+ "subdivision of trunk",
+ "organonitrogen compound",
+ "subdivision of organism along main body axis",
"entity",
- "body proper",
+ "Chronic kidney disease",
"respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
- "All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity",
+ "tube physiology phenotype",
+ "Abnormal homeostasis",
+ "lateral structure physiology phenotype",
+ "blood phosphate level phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic cavity element",
+ "genitourinary system",
+ "thoracic segment of trunk",
+ "Growth abnormality",
+ "phosphate level phenotype",
+ "Hypercalciuria",
+ "cell phenotype",
+ "taxon specific phenotype",
"respiratory system",
+ "Abnormal cellular phenotype",
+ "lipid",
"respiratory airway",
- "respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
+ "Renal phosphate wasting",
+ "lung",
+ "pair of lungs",
+ "lower respiratory tract",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "endoderm-derived structure",
"material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
- "lateral structure physiology phenotype",
"decreased level of chemical entity in blood",
+ "organ part phenotype",
+ "organ part",
+ "lateral structure",
+ "renal system phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "main body axis",
+ "Proteinuria",
"Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
+ "bicyclic compound",
+ "trunk region element",
+ "Abnormality of the upper urinary tract",
+ "thoracic cavity element phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "oxoacid derivative",
"Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "urine calcium atom level phenotype",
- "organochalcogen compound",
- "subdivision of trunk",
+ "nephron tubule phenotype",
+ "organic acid",
+ "anatomical conduit",
+ "imidazopyrimidine",
+ "anatomical entity morphology in the respiratory system phenotype",
"metal atom",
- "Stage 5 chronic kidney disease",
- "increased level of calcium atom in urine",
- "Hypokalemia",
- "Hypercalciuria",
- "respiratory system morphology phenotype",
- "increased level of chemical entity",
- "Abnormality of fluid regulation",
- "amide",
- "Abnormality of urine bicarbonate level",
+ "aldose",
+ "genitourinary system phenotype",
+ "urine organic anion level phenotype",
+ "respiration organ",
"phosphorus oxoacid derivative",
- "regulation of biological quality",
- "urine",
- "biological regulation phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "ammonium betaine",
- "sodium atom",
- "alkali metal atom",
- "phosphate level phenotype",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "Abnormality of urinary uric acid level",
- "Bicarbonaturia",
- "decreased level of chemical entity",
- "Abnormal bone structure",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "organic aromatic compound",
- "elemental molecular entity",
- "blood uric acid level phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "Organic aciduria",
- "membrane-bounded organelle",
- "blood phosphate level phenotype",
- "blood phenotype",
- "multicellular organismal process",
- "organelle",
- "skeletal system phenotype",
+ "increased level of glucose in urine",
+ "continuant",
+ "anatomical system phenotype",
+ "organ",
+ "multicellular anatomical structure phenotype",
+ "compound organ",
+ "Metabolic acidosis",
+ "tube",
+ "multicellular anatomical structure mass phenotype",
+ "onium betaine",
+ "endoderm-derived structure phenotype",
+ "aldohexose",
+ "epithelium",
+ "anatomical collection phenotype",
+ "Abnormal urine sodium concentration",
+ "carbohydrate homeostasis phenotype",
],
"has_phenotype_count": 29,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0060779",
+ "id": "MONDO:0009217",
"category": "biolink:Disease",
- "name": "acquired Fanconi syndrome",
+ "name": "Fanconi-like syndrome",
"full_name": None,
"deprecated": None,
- "description": "Fanconi Syndrome caused by exposure to noxious agents.",
- "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
+ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
+ "xref": [
+ "DOID:0090066",
+ "MEDGEN:56237",
+ "MESH:C536855",
+ "OMIM:227850",
+ "SCTID:236469003",
+ "UMLS:C0151638",
+ ],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
- "synonym": ["acquired Fanconi syndrome"],
+ "synonym": ["Fanconi-like syndrome"],
"uri": None,
"iri": None,
"namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
- ],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0009217",
- "category": "biolink:Disease",
- "name": "Fanconi-like syndrome",
- "full_name": None,
- "deprecated": None,
- "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
- "xref": [
- "DOID:0090066",
- "MEDGEN:56237",
- "MESH:C536855",
- "OMIM:227850",
- "SCTID:236469003",
- "UMLS:C0151638",
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["Fanconi-like syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": ["HP:0002754", "HP:0001876", "HP:0005939", "HP:0002783", "HP:0007606"],
- "has_phenotype_label": [
- "Osteomyelitis",
- "Pancytopenia",
- "Multiple bilateral pneumothoraces",
- "Recurrent lower respiratory tract infections",
- "Multiple cutaneous malignancies",
+ "has_phenotype": ["HP:0002754", "HP:0001876", "HP:0005939", "HP:0002783", "HP:0007606"],
+ "has_phenotype_label": [
+ "Osteomyelitis",
+ "Pancytopenia",
+ "Multiple bilateral pneumothoraces",
+ "Recurrent lower respiratory tract infections",
+ "Multiple cutaneous malignancies",
],
"has_phenotype_closure": [
- "UPHENO:0002635",
- "HP:0002664",
"UPHENO:0003811",
- "HP:0007606",
- "UBERON:0004121",
- "HP:0001574",
- "HP:0011947",
- "HP:0032101",
- "HP:0002719",
- "UBERON:0000060",
- "UPHENO:0002757",
- "UPHENO:0004536",
- "UBERON:0000025",
+ "UPHENO:3000003",
+ "UPHENO:0002548",
+ "UBERON:0002199",
+ "HP:0000951",
+ "UPHENO:0002635",
+ "HP:0011793",
"HP:0002205",
+ "UBERON:0005906",
+ "UBERON:0000025",
"UBERON:0003103",
- "UBERON:0004111",
"UBERON:0005177",
- "UBERON:0005906",
- "HP:0002107",
- "UPHENO:0002448",
- "UPHENO:0002531",
- "UPHENO:0002526",
- "UBERON:0009569",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "HP:0002103",
- "UBERON:0005181",
- "UBERON:0000064",
- "UPHENO:0002754",
- "NCBITaxon:33154",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0002548",
- "UBERON:0002100",
- "UBERON:0000915",
"UBERON:0000072",
- "UBERON:0000170",
+ "HP:0002088",
+ "UBERON:0000977",
"UBERON:0000042",
- "UPHENO:0081590",
+ "UBERON:0000077",
+ "HP:0002795",
+ "UPHENO:0081581",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0011676",
+ "UBERON:0000064",
+ "UBERON:0000481",
+ "UPHENO:0003077",
+ "UBERON:0005181",
+ "HP:0002103",
"UBERON:0013702",
- "UBERON:0001004",
- "UBERON:0000065",
+ "UBERON:0002097",
+ "NCBITaxon:33208",
"NCBITaxon:1",
- "UBERON:0004119",
- "UPHENO:0063787",
- "UPHENO:0004064",
+ "UPHENO:0005029",
+ "UPHENO:0081590",
+ "UPHENO:0087433",
+ "HP:0002719",
+ "UBERON:0015212",
+ "UBERON:0002416",
+ "UPHENO:0002731",
+ "NCBITaxon:6072",
+ "HP:0002086",
+ "UBERON:0000170",
+ "HP:0032101",
+ "UBERON:0002100",
+ "UBERON:0000060",
+ "HP:0007606",
+ "HP:0011947",
+ "UBERON:0002075",
+ "UPHENO:0002859",
+ "UBERON:0004111",
+ "NCBITaxon:33154",
+ "UPHENO:0004536",
+ "NCBITaxon:131567",
+ "UPHENO:0002757",
+ "UPHENO:0002668",
+ "HP:0002664",
+ "CL:0001035",
+ "CL:0000232",
+ "GO:0006954",
+ "CL:0000219",
+ "UPHENO:0002531",
+ "HP:0001876",
+ "CL:0000151",
+ "UPHENO:0002554",
+ "UBERON:0001474",
"UBERON:0000062",
+ "UPHENO:0004064",
+ "UBERON:0004119",
"UBERON:0000479",
- "HP:0010987",
- "UBERON:0013701",
- "HP:0005939",
- "HP:0012145",
- "UPHENO:0081581",
- "UBERON:0000077",
- "HP:0001873",
- "UPHENO:0086173",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0076684",
- "UPHENO:0003077",
+ "UBERON:0000915",
+ "UPHENO:0080377",
+ "UBERON:0002405",
"UBERON:0001558",
- "UBERON:0000977",
- "CL:0000458",
+ "UPHENO:0081440",
+ "HP:0005561",
+ "UBERON:0000065",
+ "UPHENO:0002964",
+ "UPHENO:0074687",
+ "CL:0000000",
+ "HP:0002715",
+ "UPHENO:0002948",
+ "GO:0006950",
+ "UPHENO:0002988",
+ "BFO:0000040",
"UPHENO:0074751",
- "HP:0000118",
- "UPHENO:0002976",
- "UPHENO:0049588",
- "UBERON:0002075",
- "UPHENO:0074681",
- "UPHENO:0088166",
- "UPHENO:0085302",
+ "UPHENO:0002267",
+ "CL:0000233",
+ "UBERON:0010000",
+ "CL:0002092",
+ "UPHENO:0049587",
+ "HP:0002754",
+ "UPHENO:0002754",
"UBERON:0000465",
- "HP:0010978",
- "UBERON:0034923",
- "UBERON:0009778",
- "UPHENO:0002948",
- "UPHENO:0081440",
- "BFO:0000015",
- "UPHENO:0002525",
"UPHENO:0001003",
- "UBERON:0011216",
- "HP:0002086",
- "UPHENO:0083263",
+ "CL:0000255",
+ "UBERON:0000061",
+ "UBERON:0002193",
+ "UPHENO:0002823",
+ "CL:0000988",
+ "UPHENO:0002269",
+ "NCBITaxon:2759",
+ "BFO:0000015",
+ "UBERON:0001004",
+ "CL:0000764",
+ "BFO:0000002",
+ "UBERON:0001005",
+ "UPHENO:0002976",
"UPHENO:0074682",
- "HP:0032251",
- "HP:0001876",
- "UPHENO:0002902",
+ "UPHENO:0001001",
"UPHENO:0080693",
- "UPHENO:0005092",
- "UBERON:0002204",
- "UBERON:0000383",
- "UBERON:0000481",
- "BFO:0000003",
- "UBERON:0000467",
- "BFO:0000004",
- "HP:0002754",
- "UPHENO:0055024",
- "UPHENO:0077391",
- "UPHENO:0002267",
+ "UPHENO:0002568",
"UPHENO:0002949",
- "GO:0006952",
- "GO:0006950",
- "GO:0006954",
- "UPHENO:0080377",
- "UPHENO:0074624",
- "UPHENO:0002731",
- "UPHENO:0049584",
- "HP:0002795",
- "HP:0012649",
- "UBERON:0001015",
- "UPHENO:0002385",
- "HP:0000001",
+ "UPHENO:0002530",
+ "HP:0005939",
+ "UBERON:0001062",
+ "UBERON:0004120",
+ "UPHENO:0055024",
+ "UBERON:0015203",
+ "BFO:0000004",
+ "UPHENO:0002526",
"CL:0000329",
- "UPHENO:0002988",
- "UPHENO:0086172",
- "UPHENO:0077418",
- "UPHENO:0011531",
- "UPHENO:0087433",
- "HP:0011843",
- "UBERON:0005178",
- "UBERON:0002193",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0002088",
- "UPHENO:0049586",
- "UPHENO:0002536",
- "CL:0000763",
- "BFO:0000020",
- "UPHENO:0002734",
- "UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0034925",
- "BFO:0000001",
- "BFO:0000002",
- "HP:0012647",
- "UPHENO:0049587",
- "UBERON:0010000",
- "UBERON:0001005",
- "UPHENO:0011498",
- "UPHENO:0080010",
- "CL:0000232",
- "UBERON:0000171",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0054970",
- "UPHENO:0080662",
- "UBERON:0013522",
- "GO:0008150",
- "UPHENO:0049585",
- "UPHENO:0003432",
- "HP:0011875",
+ "UPHENO:0076684",
+ "UPHENO:0002525",
"UBERON:0001434",
- "UPHENO:0001001",
- "UPHENO:0002530",
- "CL:0000988",
- "HP:0002783",
- "NCBITaxon:2759",
- "UBERON:0001062",
- "UPHENO:0001002",
- "UPHENO:0002964",
- "OBI:0100026",
+ "UBERON:0011216",
+ "CL:0002242",
+ "UPHENO:0054970",
+ "HP:0000118",
+ "CL:0000457",
+ "HP:0000001",
+ "UBERON:0002390",
+ "HP:0011843",
+ "HP:0001871",
+ "HP:0010978",
+ "HP:0000924",
"GO:0050896",
- "UBERON:0002405",
- "CL:0001035",
+ "UBERON:0002371",
+ "HP:0002783",
"UPHENO:0082875",
- "HP:0025354",
- "UBERON:0000061",
- "UBERON:0004120",
- "UPHENO:0002269",
- "HP:0002715",
- "HP:0011873",
- "UPHENO:0002574",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "HP:0011842",
- "PATO:0000001",
- "CL:0000233",
- "UBERON:0015203",
- "UPHENO:0063722",
- "HP:0008069",
- "UPHENO:0005029",
- "UBERON:0004765",
- "HP:0005561",
- "HP:0025461",
- "HP:0001881",
- "CL:0000457",
- "UPHENO:0076692",
- "NCBITaxon:33208",
- "CL:0000151",
"CL:0000225",
- "UBERON:0002048",
- "CL:0002242",
- "UBERON:0002199",
- "BFO:0000040",
- "UBERON:0002390",
+ "UPHENO:0002448",
"UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0002859",
- "UPHENO:0002963",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0002416",
- "HP:0001871",
- "CL:0000255",
+ "CL:0000458",
+ "UBERON:0013522",
+ "UBERON:0002204",
+ "UBERON:0004121",
"CL:0000738",
- "UPHENO:3000003",
- "UBERON:0002097",
- "HP:0000924",
- "HP:0033127",
+ "HP:0008069",
"CL:0000081",
- "CL:0002092",
- "HP:0001872",
- "UPHENO:0087123",
- "HP:0000951",
- "UPHENO:0077348",
- "CL:0000764",
- "UBERON:0001474",
- "UPHENO:0002823",
- "UPHENO:0002668",
- "UPHENO:0074687",
- "CL:0000000",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "UPHENO:0002263",
+ "UPHENO:0002816",
+ "BFO:0000001",
+ "UPHENO:0002734",
+ "CL:0000763",
+ "UPHENO:0074681",
+ "BFO:0000003",
+ "HP:0001574",
+ "UBERON:0013701",
+ "UPHENO:0002536",
+ "UPHENO:0005092",
+ "UPHENO:0074624",
+ "UPHENO:0002963",
+ "UBERON:0000171",
+ "UBERON:0004765",
+ "UPHENO:0049585",
+ "HP:0033127",
+ "UBERON:0001015",
+ "UBERON:0009778",
+ "UBERON:0002048",
+ "HP:0012649",
+ "UBERON:0000383",
+ "HP:0012647",
+ "HP:0012145",
+ "UPHENO:0001002",
+ "UBERON:0000467",
+ "GO:0006952",
+ "UBERON:0034925",
+ "UBERON:0005178",
+ "UPHENO:0049588",
+ "UPHENO:0083263",
"UPHENO:0004459",
+ "UPHENO:0002385",
+ "UBERON:0000468",
+ "UPHENO:0002902",
+ "UPHENO:0049584",
+ "UBERON:0009569",
+ "UPHENO:0076692",
+ "UBERON:0034923",
+ "UPHENO:0080662",
+ "GO:0008150",
+ "HP:0002107",
+ "UPHENO:0003432",
+ "UPHENO:0002263",
+ "UPHENO:0049586",
],
"has_phenotype_closure_label": [
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "ectoderm-derived structure phenotype",
- "integument",
+ "Abnormality of the skin",
"Neoplasm",
- "integumental system",
- "skin of body",
- "integumental system phenotype",
- "Recurrent infections",
- "Recurrent respiratory infections",
- "Unusual infection",
- "lateral structure phenotype",
- "respiratory airway",
- "compound organ",
- "trunk region element",
- "serous sac",
- "respiratory system",
- "cellular organisms",
- "endoderm-derived structure",
- "pleura phenotype",
- "Eumetazoa",
- "pleural sac",
+ "neoplasm phenotype",
+ "ectoderm-derived structure",
"integument phenotype",
- "lung",
- "organ part phenotype",
- "respiratory system physiology phenotype",
- "mixed endoderm/mesoderm-derived structure phenotype",
- "subdivision of trunk",
- "respiratory tract",
- "serous membrane",
+ "Recurrent infections",
+ "integumental system",
+ "Respiratory tract infection",
"subdivision of tube",
- "Abnormal lung morphology",
- "subdivision of tube phenotype",
- "Neoplasm of the skin",
- "pleura",
- "Eukaryota",
+ "respiratory tract",
+ "anatomical wall phenotype",
+ "pleura phenotype",
+ "Abnormal respiratory system morphology",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "anatomical entity morphology phenotype",
+ "tube phenotype",
+ "Abnormality of the respiratory system",
+ "organ part",
+ "cellular organisms",
+ "mixed endoderm/mesoderm-derived structure",
"organ phenotype",
- "compound organ phenotype",
- "serous membrane phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "multi-tissue structure phenotype",
+ "integumental system phenotype",
+ "respiratory system physiology phenotype",
+ "respiratory system morphology phenotype",
+ "lower respiratory tract",
+ "organism subdivision",
+ "root",
"Abnormal pleura morphology",
- "proximo-distal subdivision of respiratory tract",
"thoracic cavity element",
- "body proper",
- "Opisthokonta",
+ "pleura",
+ "respiratory system",
+ "endoderm-derived structure",
+ "endoderm-derived structure phenotype",
"viscus",
- "respiratory system phenotype",
- "trunk",
- "anatomical conduit",
- "organism subdivision",
- "ectoderm-derived structure",
+ "subdivision of organism along main body axis",
"pleura morphology phenotype",
- "tube phenotype",
- "decreased number of myeloid cell",
- "cell",
- "mesoderm-derived structure phenotype",
- "Abnormality of thrombocytes",
- "Pneumothorax",
- "Abnormal myeloid cell morphology",
- "mixed endoderm/mesoderm-derived structure",
- "number of platelet phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "Multiple cutaneous malignancies",
- "Abnormal respiratory system morphology",
- "blood cell phenotype",
- "Recurrent lower respiratory tract infections",
- "decreased number of anatomical structure",
- "specifically dependent continuant",
- "biogenic amine secreting cell",
- "immune system phenotype",
- "increased defense response in bone element",
- "increased biological_process in bone element",
- "multicellular organism phenotype",
- "material anatomical entity",
- "multicellular anatomical structure",
- "increased response to stress in bone element",
- "material anatomical entity phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "tube",
- "anatomical entity physiology phenotype",
- "Abnormality of the skeletal system",
- "musculoskeletal system physiology phenotype",
- "anatomical structure phenotype",
- "lower respiratory tract",
- "increased response to stimulus",
- "lateral structure",
- "platelet phenotype",
- "response to stimulus",
- "skeletal system phenotype",
- "biological_process",
"thoracic segment organ",
- "increased qualitatively response to stimulus",
- "multi-tissue structure",
- "continuant",
- "Abnormal inflammatory response",
- "anatomical structure",
- "response to stimulus phenotype",
- "anucleate cell",
- "skin of body phenotype",
- "Abnormality of the skin",
- "inflammatory response",
- "biological_process rate phenotype",
- "anatomical wall phenotype",
- "organ system subdivision phenotype",
- "All",
+ "body proper",
+ "Abnormal respiratory system physiology",
+ "Eukaryota",
+ "Abnormal lung morphology",
+ "respiratory airway",
+ "tube",
+ "pleural sac",
+ "compound organ",
+ "respiratory system phenotype",
+ "respiration organ",
"anatomical conduit phenotype",
- "organ system subdivision",
- "number of cell phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormal musculoskeletal physiology",
+ "skeletal element",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Neoplasm of the skin",
+ "bone marrow cell",
+ "Metazoa",
+ "bone element",
+ "secretory cell",
+ "nucleate cell",
+ "Abnormal bone marrow cell morphology",
+ "trunk region element",
+ "bone marrow",
+ "eukaryotic cell",
+ "compound organ phenotype",
+ "response to stress phenotype",
+ "increased response to stimulus",
+ "motile cell",
+ "cell",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "Abnormality of the musculoskeletal system",
+ "blood cell",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "hematopoietic cell",
+ "erythrocyte",
+ "main body axis",
+ "leukocyte",
+ "Multiple cutaneous malignancies",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "organ",
+ "tissue",
+ "entity",
+ "multicellular organism morphology phenotype",
+ "Opisthokonta",
+ "Pancytopenia",
+ "material entity",
+ "Recurrent respiratory infections",
+ "bone cell",
"independent continuant",
+ "Abnormality of immune system physiology",
+ "musculature of body phenotype",
+ "increased qualitatively response to stimulus",
"defense response",
- "multicellular organism",
+ "musculoskeletal system",
"Multiple bilateral pneumothoraces",
- "Metazoa",
- "occurrent",
- "increased biological_process",
- "Respiratory tract infection",
- "disconnected anatomical group",
- "musculature phenotype",
+ "hematopoietic system",
+ "biological_process",
+ "process",
"Increased inflammatory response",
- "increased inflammatory response",
- "musculature of body phenotype",
- "anatomical entity",
- "musculoskeletal system",
- "immune system",
- "phenotype",
- "Abnormality of immune system physiology",
+ "multicellular organism",
+ "musculoskeletal system phenotype",
+ "All",
+ "skeletal system",
+ "occurrent",
"increased qualitatively biological_process",
- "process",
- "Abnormality of the immune system",
- "pair of lungs",
- "immune system physiology phenotype",
- "immune system morphology phenotype",
- "organism",
- "Abnormal cellular phenotype",
- "quality",
- "Abnormal respiratory system physiology",
- "anatomical entity phenotype",
- "oxygen accumulating cell",
+ "serous membrane",
+ "multicellular anatomical structure",
+ "biogenic amine secreting cell",
+ "Unusual infection",
+ "anatomical system phenotype",
+ "Abnormality of the integument",
+ "anatomical conduit",
+ "taxon specific phenotype",
+ "response to stress",
+ "Abnormality of blood and blood-forming tissues",
+ "material anatomical entity",
"biological_process phenotype",
- "Osteomyelitis",
+ "Abnormal musculoskeletal physiology",
+ "Pneumothorax",
"inflammatory response phenotype",
- "anatomical entity morphology phenotype",
- "response to stress",
- "bone element",
- "musculature of body",
- "Abnormality of the integument",
- "main body axis",
- "musculature",
- "number of anatomical enitites of type anatomical structure phenotype",
- "proximo-distal subdivision of respiratory tract phenotype",
- "skeletal system",
- "Abnormality of the respiratory system",
- "response to stress phenotype",
"increased inflammatory response in bone element",
- "Abnormal cell morphology",
- "decreased number of platelet",
- "musculoskeletal system phenotype",
- "anatomical system",
- "thoracic segment of trunk",
+ "Abnormal inflammatory response",
"increased qualitatively inflammatory response",
- "non-connected functional system",
- "mesoderm-derived structure",
+ "response to stimulus",
+ "anatomical entity phenotype",
"Phenotypic abnormality",
- "anatomical structure physiology phenotype",
- "decreased number of material anatomical entity",
- "increased response to stimulus in bone element",
- "Abnormal bone marrow cell morphology",
- "decreased number of anatomical entity",
- "Abnormal leukocyte morphology",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "tissue",
- "organ",
- "root",
- "multicellular anatomical structure phenotype",
+ "immune system",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
+ "musculature of body",
+ "skin of body phenotype",
+ "organ system subdivision",
+ "organ part phenotype",
+ "serous sac",
+ "material anatomical entity physiology phenotype",
+ "skin of body",
+ "mixed endoderm/mesoderm-derived structure phenotype",
+ "defense response phenotype",
+ "multi-tissue structure phenotype",
+ "lateral structure phenotype",
+ "immune system phenotype",
+ "ectoderm-derived structure phenotype",
+ "musculature phenotype",
+ "anatomical structure",
+ "anatomical entity",
+ "response to stimulus phenotype",
+ "anatomical collection",
+ "increased inflammatory response",
+ "phenotypic effect",
+ "serous membrane phenotype",
+ "anatomical system physiology phenotype",
+ "Osteomyelitis",
+ "anatomical system",
+ "Recurrent lower respiratory tract infections",
+ "trunk",
"serotonin secreting cell",
- "hematopoietic cell",
- "hemolymphoid system",
+ "oxygen accumulating cell",
+ "disconnected anatomical group",
+ "Abnormality of the immune system",
+ "lung",
+ "pair of lungs",
+ "non-connected functional system",
+ "Eumetazoa",
+ "increased biological_process",
+ "Neoplasm by anatomical site",
+ "lateral structure",
+ "biological_process rate phenotype",
+ "integument",
+ "inflammatory response",
+ "Abnormality of the skeletal system",
"erythroid lineage cell",
- "respiratory system morphology phenotype",
- "Thrombocytopenia",
- "skeletal element",
- "Abnormal platelet morphology",
- "bone marrow",
- "Abnormal cellular immune system morphology",
- "taxon specific phenotype",
- "Abnormal immune system morphology",
- "Abnormality of multiple cell lineages in the bone marrow",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "defense response phenotype",
- "multicellular organism morphology phenotype",
- "subdivision of organism along main body axis",
- "material entity",
- "leukocyte",
- "organ part",
- "blood cell",
- "myeloid cell",
- "entity",
- "number of hematopoietic cell phenotype",
"platelet",
- "Abnormality of blood and blood-forming tissues",
- "erythrocyte",
- "bone cell",
- "respiration organ",
- "bone marrow cell",
- "decreased number of hematopoietic cell",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "hematopoietic system phenotype",
+ "organ system subdivision phenotype",
+ "musculoskeletal system physiology phenotype",
+ "continuant",
+ "subdivision of tube phenotype",
+ "increased response to stimulus in bone element",
+ "thoracic segment of trunk",
+ "multi-tissue structure",
+ "increased biological_process in bone element",
+ "musculature",
+ "immune system physiology phenotype",
+ "increased response to stress in bone element",
+ "phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism phenotype",
+ "anucleate cell",
+ "increased defense response in bone element",
"anatomical wall",
- "Pancytopenia",
- "leukocyte morphology phenotype",
- "Abnormal skeletal morphology",
- "Abnormal leukocyte count",
- "secretory cell",
- "motile cell",
- "cell phenotype",
- "nucleate cell",
- "eukaryotic cell",
- "hematopoietic system",
- "Abnormal platelet count",
+ "anatomical structure physiology phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "material anatomical entity phenotype",
],
"has_phenotype_count": 5,
"highlight": None,
"score": None,
},
+ {
+ "id": "MONDO:1011502",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, cattle",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "xref": ["OMIA:000366-9913"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": None,
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
{
"id": "MONDO:1011504",
"category": "biolink:Disease",
@@ -6021,37 +5729,85 @@ def search():
"score": None,
},
{
- "id": "MONDO:0060778",
+ "id": "MONDO:0060779",
"category": "biolink:Disease",
- "name": "adult Fanconi syndrome",
+ "name": "acquired Fanconi syndrome",
"full_name": None,
"deprecated": None,
- "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
- "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "synonym": ["acquired Fanconi syndrome"],
"uri": None,
"iri": None,
"namespace": "MONDO",
- "has_phenotype": ["HP:0003581"],
+ "has_phenotype": None,
"has_phenotype_label": None,
- "has_phenotype_closure": ["HP:0003581"],
+ "has_phenotype_closure": None,
"has_phenotype_closure_label": None,
- "has_phenotype_count": 1,
+ "has_phenotype_count": 0,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:1011502",
+ "id": "MONDO:0001083",
"category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
+ "name": "Fanconi renotubular syndrome",
"full_name": None,
"deprecated": None,
- "description": "Fanconi syndrome that occurs in cattle.",
- "xref": ["OMIA:000366-9913"],
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:1011503",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, dog",
+ "full_name": None,
+ "deprecated": None,
+ "description": "Fanconi syndrome that occurs in dog.",
+ "xref": ["OMIA:000366-9615"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
@@ -6068,6 +5824,30 @@ def search():
"highlight": None,
"score": None,
},
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_label": ["Adult onset"],
+ "has_phenotype_closure": ["HP:0012823", "HP:0031797", "HP:0003674", "HP:0003581", "HP:0000001"],
+ "has_phenotype_closure_label": ["All", "Clinical course", "Adult onset", "Clinical modifier", "Onset"],
+ "has_phenotype_count": 1,
+ "highlight": None,
+ "score": None,
+ },
{
"id": "MONDO:0013247",
"category": "biolink:Disease",
@@ -6129,841 +5909,803 @@ def search():
"Renal insufficiency",
],
"has_phenotype_closure": [
- "HP:0000083",
+ "UPHENO:0004503",
+ "HP:0000002",
+ "CHEBI:33559",
+ "UBERON:0015212",
"CHEBI:33318",
- "UPHENO:0051712",
+ "CHEBI:33521",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "GO:0040007",
"HP:0011280",
- "HP:0002653",
- "HP:0025142",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
+ "UPHENO:0068134",
+ "HP:0012212",
+ "HP:0012531",
"UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0049874",
+ "UPHENO:0080351",
"HP:0004322",
- "CHEBI:36080",
- "UPHENO:0068477",
- "UPHENO:0082943",
- "HP:0003165",
- "HP:0002157",
- "HP:0003117",
- "UPHENO:0003116",
- "PR:000064867",
- "UPHENO:0051612",
- "UBERON:0034923",
- "HP:0002152",
- "UPHENO:0051630",
- "PR:000013429",
- "CHEBI:33694",
- "UPHENO:0068068",
- "HP:0010876",
- "HP:0430071",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "UPHENO:0069062",
+ "UBERON:0015204",
+ "UPHENO:0081440",
+ "CHEBI:26191",
"HP:0033331",
- "UPHENO:0052038",
- "UBERON:0001977",
- "UPHENO:0068442",
- "UPHENO:0051648",
- "CHEBI:33695",
- "UPHENO:0068472",
+ "UPHENO:0002909",
+ "UPHENO:0082541",
+ "PR:000013429",
+ "UBERON:0000949",
"UBERON:0015203",
- "UPHENO:0068533",
+ "UPHENO:0051686",
+ "UPHENO:0068049",
+ "UPHENO:0003116",
+ "PR:000000001",
+ "HP:0003117",
+ "UPHENO:0066943",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "UPHENO:0066951",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
"CHEBI:35381",
- "CHEBI:22313",
- "CHEBI:33917",
+ "UPHENO:0081423",
"CHEBI:16646",
+ "HP:0002653",
+ "UPHENO:0082536",
"CHEBI:78616",
+ "HP:0003076",
+ "CHEBI:32988",
+ "UPHENO:0046344",
+ "HP:0000093",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "CHEBI:33256",
"CHEBI:33839",
"HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "CHEBI:37622",
- "GO:0008202",
- "GO:0006775",
- "UPHENO:0076293",
- "CHEBI:51958",
- "CHEBI:18059",
- "UPHENO:0000541",
- "CHEBI:26191",
+ "UPHENO:0068477",
+ "UPHENO:0002554",
+ "UBERON:0000064",
+ "UPHENO:0068565",
+ "UPHENO:0079534",
+ "HP:0100508",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "UPHENO:0068251",
+ "UPHENO:0049873",
"CHEBI:35350",
- "UPHENO:0081423",
- "UPHENO:0050502",
- "GO:0006629",
- "UPHENO:0049627",
+ "UPHENO:0051628",
+ "UPHENO:0000541",
+ "UPHENO:0068442",
+ "CHEBI:51958",
+ "HP:0000114",
+ "UPHENO:0046291",
"UPHENO:0082539",
- "UPHENO:0068251",
- "UPHENO:0048763",
- "UPHENO:0078589",
- "GO:0040007",
"UPHENO:0049618",
+ "GO:0006775",
+ "CHEBI:33822",
+ "HP:0003111",
+ "UPHENO:0002246",
+ "UPHENO:0068068",
+ "CHEBI:33635",
+ "UPHENO:0002636",
+ "CHEBI:33832",
+ "UBERON:0002100",
+ "UPHENO:0078628",
"CHEBI:35788",
- "UPHENO:0075195",
- "CHEBI:47042",
"CHEBI:17823",
- "HP:0032245",
- "UPHENO:0068064",
- "CHEBI:33832",
- "CHEBI:33822",
- "HP:0031415",
- "UPHENO:0080643",
- "UPHENO:0089764",
"CHEBI:27300",
- "CHEBI:36853",
+ "UPHENO:0002832",
+ "GO:0008202",
+ "CHEBI:36963",
+ "CHEBI:47042",
"CHEBI:27136",
+ "UPHENO:0081424",
+ "CHEBI:36853",
+ "UPHENO:0002536",
+ "UBERON:0005172",
+ "CHEBI:35341",
+ "PR:000064867",
+ "UPHENO:0002311",
+ "UPHENO:0049723",
+ "GO:0006629",
+ "GO:1901615",
+ "UBERON:0000467",
+ "CHEBI:33582",
"GO:0044238",
- "GO:0044281",
- "UPHENO:0068047",
- "CHEBI:33674",
- "HP:0033354",
- "CHEBI:36963",
- "UBERON:0006555",
- "GO:0032501",
- "UPHENO:0068134",
- "UPHENO:0002754",
- "UBERON:0005173",
- "UBERON:0015212",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "UPHENO:0046291",
+ "UBERON:8450002",
+ "UPHENO:0002385",
+ "UBERON:0001977",
+ "UPHENO:0076293",
+ "HP:0025745",
+ "CHEBI:33285",
+ "CHEBI:35352",
+ "UBERON:0000062",
+ "UPHENO:0052038",
+ "GO:0042359",
"HP:0010935",
- "UBERON:0004122",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UPHENO:0082536",
- "UBERON:0013701",
- "UPHENO:0002360",
- "CHEBI:73558",
+ "CHEBI:35605",
+ "UPHENO:0089294",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "PR:000018263",
+ "CHEBI:33608",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "HP:0002909",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "CHEBI:22984",
+ "UPHENO:0068144",
+ "UPHENO:0068047",
+ "UPHENO:0002422",
+ "CHEBI:33595",
+ "UPHENO:0077817",
+ "CHEBI:36587",
+ "UPHENO:0046383",
"UPHENO:0046286",
- "UPHENO:0004503",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "HP:0000938",
+ "HP:0001507",
+ "UPHENO:0002926",
"HP:0002748",
- "UPHENO:0002909",
- "UBERON:0005172",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0081547",
- "UPHENO:0050116",
- "UPHENO:0002832",
+ "HP:0003110",
+ "UBERON:0000174",
+ "HP:0032245",
+ "HP:0000117",
+ "GO:0001503",
+ "HP:0003330",
"HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UBERON:0000463",
- "UBERON:0000061",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:37577",
+ "HP:0004349",
+ "HP:0011842",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "HP:0100511",
+ "UPHENO:0082834",
+ "UPHENO:0002346",
+ "HP:0011849",
+ "UPHENO:0002559",
+ "UPHENO:0066913",
+ "UPHENO:0080352",
+ "HP:0000079",
+ "UBERON:0000383",
+ "UPHENO:0002377",
+ "UPHENO:0051709",
+ "UPHENO:0002816",
+ "CHEBI:50047",
"HP:0000924",
- "CHEBI:33635",
- "HP:0033127",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0000118",
- "UPHENO:0003088",
- "UPHENO:0049723",
+ "UPHENO:0076286",
+ "HP:0003165",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0002757",
+ "UPHENO:0004505",
"UBERON:0001434",
- "UPHENO:0078628",
- "UPHENO:0002442",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UPHENO:0046281",
- "UBERON:0001062",
- "HP:0001871",
- "UBERON:0000178",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "HP:0100508",
- "CHEBI:33675",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "CHEBI:24431",
- "GO:0042592",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0075902",
- "CHEBI:23367",
- "HP:0012213",
- "UBERON:0002100",
- "UPHENO:0082534",
+ "UBERON:0004765",
+ "UPHENO:0002531",
+ "HP:0011843",
+ "UPHENO:0081544",
+ "UPHENO:0003432",
+ "UBERON:0001474",
+ "UBERON:0000025",
+ "UBERON:0003103",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UPHENO:0003941",
+ "GO:0044281",
+ "UPHENO:0003093",
+ "HP:0100529",
"HP:0000119",
- "UBERON:0015204",
- "UPHENO:0046284",
- "UPHENO:0002554",
- "UPHENO:0034351",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "UPHENO:0082541",
- "HP:0000114",
+ "UPHENO:0081581",
"BFO:0000001",
- "UBERON:0001231",
- "UPHENO:0089294",
+ "UBERON:0001008",
+ "UBERON:0000463",
+ "UPHENO:0000543",
+ "UPHENO:0003413",
"UPHENO:0002248",
- "HP:0100511",
- "UPHENO:0003430",
"BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:33595",
- "CHEBI:33302",
- "BFO:0000004",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UBERON:0000025",
- "HP:0031980",
- "GO:0008152",
+ "UBERON:0002113",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UPHENO:0005092",
+ "UPHENO:0002252",
+ "UBERON:0005173",
+ "UBERON:0000475",
+ "UPHENO:0068472",
+ "CHEBI:37622",
+ "UBERON:0001969",
+ "UBERON:0000179",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UBERON:0034923",
"UPHENO:0002427",
- "CHEBI:51143",
- "UPHENO:0046344",
- "UPHENO:0004505",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UPHENO:0002536",
- "GO:0001503",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "CHEBI:33579",
- "UBERON:0000467",
- "BFO:0000003",
- "UBERON:0000174",
- "UBERON:0001474",
- "UBERON:0010000",
- "CHEBI:36360",
- "HP:0000001",
- "UPHENO:0084654",
- "UBERON:0013702",
+ "UPHENO:0003088",
+ "CHEBI:37577",
+ "UPHENO:0002386",
+ "HP:0000077",
"UPHENO:0068054",
- "HP:0002757",
- "UPHENO:0068049",
- "UPHENO:0051960",
- "HP:0003111",
- "GO:0042359",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UBERON:0000949",
- "UBERON:0000064",
- "GO:1901615",
- "UPHENO:0002926",
- "UPHENO:0066939",
+ "UPHENO:0046281",
+ "HP:0012599",
"CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0046284",
+ "UPHENO:0002803",
+ "UBERON:0001088",
+ "UPHENO:0002530",
+ "HP:0002659",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0003025",
+ "UPHENO:0051900",
+ "UPHENO:0002963",
+ "UPHENO:0066903",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "UPHENO:0003381",
"UPHENO:0002267",
+ "GO:0009987",
+ "UBERON:0007684",
+ "HP:0003355",
"UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0002568",
- "CHEBI:24870",
- "CHEBI:26082",
- "UPHENO:0077817",
- "UBERON:0004111",
- "UBERON:0005177",
- "GO:0008150",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0068491",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UPHENO:0066739",
+ "UBERON:0000916",
+ "UBERON:0004122",
+ "UPHENO:0089764",
"UBERON:0009773",
- "UPHENO:0081544",
- "UBERON:0002113",
- "CHEBI:33575",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002308",
+ "UPHENO:3000004",
+ "UBERON:0004120",
+ "UBERON:0001231",
"CHEBI:24651",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0051628",
- "UBERON:0011676",
- "HP:0012212",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "UBERON:0000483",
- "UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
+ "HP:0004348",
+ "CHEBI:36360",
+ "CHEBI:33302",
+ "UBERON:0013701",
+ "UPHENO:0068110",
+ "UPHENO:0002287",
+ "HP:0033127",
"CHEBI:16541",
- "UPHENO:0004791",
- "UPHENO:0003941",
- "HP:0033405",
- "UPHENO:0005285",
- "UPHENO:0051739",
- "CHEBI:22984",
+ "UBERON:0003914",
+ "HP:0031415",
+ "CHEBI:24833",
+ "UPHENO:0084654",
+ "UPHENO:0051712",
+ "HP:0032180",
+ "UPHENO:0051648",
+ "UPHENO:0089759",
"HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "HP:0002150",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "CHEBI:73558",
+ "UPHENO:0002668",
+ "UPHENO:0050502",
+ "CHEBI:64709",
+ "GO:0042592",
+ "CHEBI:26020",
+ "UBERON:0000489",
"BFO:0000015",
- "HP:0000938",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "HP:0100530",
- "UPHENO:0002385",
- "HP:0012531",
- "CHEBI:36587",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0079534",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33521",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UPHENO:0076286",
+ "CHEBI:24867",
+ "UPHENO:0049627",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UBERON:0000178",
+ "CHEBI:23367",
"GO:0006766",
- "CHEBI:35352",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UPHENO:0046362",
- "UBERON:0000479",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0004364",
- "UPHENO:0048711",
- "CHEBI:35605",
- "HP:0011843",
- "UPHENO:0077826",
- "HP:0000079",
- "UPHENO:0024906",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "CHEBI:35341",
- "UBERON:8450002",
- "UBERON:0000383",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "PATO:0000001",
- "UBERON:0001285",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0048763",
+ "HP:0012591",
+ "UPHENO:0002525",
+ "CHEBI:33579",
"HP:0000818",
+ "CHEBI:15693",
+ "UBERON:0013702",
+ "UPHENO:0024906",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0051630",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "CHEBI:36357",
+ "UPHENO:0002360",
+ "UPHENO:0068064",
+ "GO:0008150",
+ "UPHENO:0050116",
+ "HP:0001939",
+ "GO:0008152",
+ "CHEBI:36586",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "UPHENO:0002532",
+ "UBERON:0004819",
+ "BFO:0000002",
+ "UPHENO:0001001",
"UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
+ "UBERON:0002417",
+ "HP:0012213",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
"UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0001002",
- "HP:0002659",
- "UPHENO:0002532",
- "UPHENO:0081440",
+ "UPHENO:0001003",
+ "UPHENO:0076285",
+ "UPHENO:0002949",
+ "CHEBI:33241",
+ "UPHENO:0066964",
"UPHENO:0002964",
- "UPHENO:0084653",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "PR:000018263",
- "HP:0000117",
- "UPHENO:0066925",
- "HP:0012591",
- "HP:0012599",
- "UBERON:0001088",
- "CHEBI:36962",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "UPHENO:0002210",
+ "UPHENO:0004791",
+ "CHEBI:18059",
+ "BFO:0000004",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "HP:0002148",
+ "UPHENO:0051960",
+ "CHEBI:26082",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0002442",
+ "UPHENO:0004418",
"CHEBI:36359",
- "HP:0003355",
- "CHEBI:33559",
- "CHEBI:50047",
- "CHEBI:36586",
- "HP:0002909",
- "CHEBI:25806",
- "UPHENO:0068144",
- "CHEBI:24833",
- "CHEBI:50860",
- "UPHENO:0089759",
- "UPHENO:0049873",
- "UPHENO:0066960",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0077826",
+ "UBERON:0006555",
+ "UBERON:0000468",
+ "UBERON:0010000",
+ "UPHENO:0080643",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0069327",
+ "UPHENO:0082534",
+ "UPHENO:0048711",
+ "UBERON:0004211",
+ "HP:0002150",
+ "UBERON:0002204",
+ "UPHENO:0066950",
"CHEBI:33709",
- "CHEBI:33582",
- "CHEBI:33608",
- "HP:6000531",
- "CHEBI:72695",
- "HP:0040156",
- "CHEBI:33256",
- "HP:0001992",
- "UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
- "CHEBI:64709",
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0078589",
+ "HP:0100530",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285",
],
"has_phenotype_closure_label": [
"Renal insufficiency",
- "Hypercalciuria",
+ "abdomen element",
"increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
+ "organic amino compound",
"calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
+ "process",
+ "urine calcium atom level phenotype",
+ "alkaline earth metal atom",
+ "main group element atom",
"Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
"Constitutional symptom",
+ "anatomical entity height phenotype",
+ "oxygen molecular entity",
+ "delayed growth",
"Short stature",
- "size of anatomical entity phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "Abnormality of body height",
+ "epithelium",
+ "decreased size of the multicellular anatomical structure",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
"delayed biological_process",
+ "anatomical system physiology phenotype",
+ "kidney epithelium",
+ "trunk phenotype",
+ "Pain",
+ "decreased size of the material anatomical entity",
+ "phosphate level phenotype",
"Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
"blood serum",
+ "blood plasma",
"glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
+ "decreased functionality of the anatomical structure",
+ "increased level of chemical entity in blood serum",
+ "Growth delay",
+ "bone element phenotype",
"amino acid chain",
- "disconnected anatomical group",
+ "increased blood serum role level",
+ "main body axis",
+ "protein-containing molecular entity",
+ "increased level of chemical entity in blood plasma",
"blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
+ "increased level of parathyroid hormone in blood",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "Acute phase response",
+ "increased bodily fluid base level",
+ "non-connected functional system",
+ "increased level of parathyroid hormone in blood serum",
+ "haemolymphatic fluid phenotype",
+ "parathyroid hormone",
+ "organic polycyclic compound",
+ "cavitated compound organ phenotype",
+ "carbohydrate",
"Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
+ "Proteinuria",
+ "s-block element atom",
+ "Aminoaciduria",
+ "s-block molecular entity",
+ "Abnormal urine protein level",
+ "increased level of protein polypeptide chain in urine",
"macromolecule",
+ "primary metabolic process",
+ "small molecule metabolic process",
+ "homeostatic process",
"polypeptide",
+ "role bodily fluid level phenotype",
+ "lipid metabolic process phenotype",
+ "increased level of monosaccharide in urine",
+ "increased blood serum base level",
+ "seco-steroid",
+ "calcitriol",
+ "vitamin D",
+ "organ part",
+ "hydroxycalciol",
+ "ossification",
"protein polypeptide chain",
+ "endocrine system phenotype",
+ "triol",
+ "cellular process",
"metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
+ "decreased size of the multicellular organism",
+ "vitamin D metabolic process phenotype",
+ "Renal tubular dysfunction",
+ "vitamin metabolic process phenotype",
+ "material anatomical entity phenotype",
"increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
+ "urine glucose level phenotype",
+ "organic hydroxy compound",
+ "Osteomalacia",
+ "upper urinary tract phenotype",
+ "polycyclic compound",
+ "organic cyclic compound",
"polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
"glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
+ "hormone blood level phenotype",
+ "size of multicellular organism phenotype",
+ "High serum calcitriol",
+ "compound organ physiology phenotype",
+ "vitamin metabolic process",
+ "steroid metabolic process",
+ "Abnormal blood phosphate concentration",
"cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
"blood organic molecular entity level phenotype",
- "polycyclic compound",
+ "Abnormal metabolism",
+ "increased level of calcitriol in blood",
+ "organ",
+ "blood organic amino compound level phenotype",
+ "vitamin D level phenotype",
+ "steroid metabolic process phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
"increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
+ "increased level of organic acid in urine",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "blood serum chemical entity level phenotype",
+ "growth phenotype",
"Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
+ "oxoacid",
+ "steroid",
+ "organic oxo compound",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "renal tubule phenotype",
+ "nitrogen molecular entity level phenotype",
+ "Generalized aminoaciduria",
+ "nephron epithelium phenotype",
+ "molecule",
+ "chalcogen molecular entity",
+ "hydroxides",
+ "amino acid level phenotype",
+ "role blood level phenotype",
+ "primary amide",
+ "epithelium physiology phenotype",
+ "Osteopenia",
+ "Rickets",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
"amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
+ "Abnormal urinary electrolyte concentration",
+ "Renal phosphate wasting",
"blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
+ "anatomical entity morphology phenotype",
+ "Abnormal bone structure",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "metal atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "body proper",
+ "lipid level phenotype",
+ "Abnormal bone ossification",
+ "calcium atom",
+ "homeostatic process phenotype",
+ "bone element",
+ "increased urine role level",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "musculoskeletal system",
+ "carboxamide",
+ "blood",
+ "vitamin D metabolic process",
+ "decreased functionality of the anatomical conduit",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased level of lipid",
+ "Abnormality of the skeletal system",
+ "genitourinary system phenotype",
+ "multicellular anatomical structure",
+ "Recurrent fractures",
+ "trunk",
+ "Abnormal musculoskeletal physiology",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Abnormal circulating hormone concentration",
+ "decreased functionality of the renal tubule",
+ "skeletal system",
+ "musculature of body phenotype",
+ "Elevated circulating parathyroid hormone level",
+ "abdominal segment element phenotype",
+ "musculature of body",
+ "multicellular organism height phenotype",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "excretory tube physiology phenotype",
+ "renal tubule",
"decreased level of phosphate in blood",
+ "Proximal tubulopathy",
"Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
+ "decreased functionality of the nephron tubule",
"nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
+ "epithelial tube",
"molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "genitourinary system",
+ "carbon group molecular entity",
+ "metabolic process",
"material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
- "Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
+ "epithelial tube physiology phenotype",
+ "blood parathyroid hormone level phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "compound organ phenotype",
+ "role urine level phenotype",
"organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "carbohydrates and carbohydrate derivatives",
+ "trunk region element",
+ "Abnormality of vitamin metabolism",
+ "phosphate",
+ "Abnormality of the urinary system",
+ "organism subdivision",
"organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
- "cavitated compound organ physiology phenotype",
+ "organ system subdivision",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "Abnormality of urine calcium concentration",
+ "organic hydroxy compound metabolic process phenotype",
+ "Abnormal glomerular filtration rate",
+ "lipid metabolic process",
+ "renal system",
+ "hydroxy steroid",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "nephron epithelium",
+ "excretory system",
"multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
"decreased level of chemical entity in blood",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
+ "organ part phenotype",
+ "Abnormal urine phosphate concentration",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "kidney physiology phenotype",
+ "lateral structure physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Glycosuria",
+ "ion",
+ "abdominal segment element physiology phenotype",
+ "Bone pain",
+ "protein",
+ "nephron",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
"peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "lipid metabolic process phenotype",
"cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
+ "abdominal segment element",
+ "skeletal element phenotype",
+ "kidney phenotype",
"decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
+ "nephron tubule phenotype",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "All",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
+ "tissue",
"musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
+ "decreased height of the anatomical entity",
+ "increased blood role level",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "multicellular organism",
+ "lateral structure phenotype",
+ "increased level of chemical entity in blood",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "D3 vitamins",
+ "Abnormality of urine homeostasis",
+ "lipid",
+ "tissue phenotype",
+ "musculature",
+ "monosaccharide",
"bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "small molecule metabolic process phenotype",
+ "renal system physiology phenotype",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "increased level of lipid in blood",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "decreased functionality of the epithelium",
+ "endocrine system",
+ "entity",
+ "hydroxy seco-steroid",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
"Abnormal circulating metabolite concentration",
+ "primary metabolic process phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
"independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "Abnormality of the endocrine system",
+ "continuant",
+ "increased level of glucose in urine",
"renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "hematopoietic system phenotype",
+ "blood phosphate level phenotype",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "blood monoatomic ion level phenotype",
+ "fat-soluble vitamin metabolic process",
+ "occurrent",
+ "Hypercalciuria",
+ "organic hydroxy compound metabolic process",
+ "organ phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
"musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "excretory tube",
+ "increased level of vitamin D",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "Reduced bone mineral density",
+ "size of anatomical entity phenotype",
+ "haemolymphatic fluid",
+ "abdominal segment of trunk",
+ "monoatomic entity",
"organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
+ "subdivision of organism along main body axis",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "Decreased bone element mass density",
"musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
+ "decreased functionality of the tissue",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical structure",
"decreased functionality of the anatomical entity",
- "organ part phenotype",
"anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
+ "phosphorus oxoacid derivative",
+ "atom",
+ "excretory tube phenotype",
+ "anatomical system phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
"decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
+ "epithelial tube phenotype",
"blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
- "nitrogen molecular entity level phenotype",
- "Elevated urinary carboxylic acid",
- "amino acid level phenotype",
- "heteroorganic entity",
- "organic acid",
- "High serum calcitriol",
+ "multicellular organism chemical entity level phenotype",
+ "compound organ",
"urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "p-block molecular entity",
+ "phosphorus molecular entity",
+ "role blood serum level phenotype",
+ "phenotype",
"Abnormal urine metabolite level",
],
"has_phenotype_count": 17,
@@ -6971,2669 +6713,2620 @@ def search():
"score": None,
},
{
- "id": "MONDO:0014275",
+ "id": "MONDO:0030056",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
+ "name": "Fanconi renotubular syndrome 5",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
- "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
+ "description": None,
+ "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH",
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0003259",
- "HP:0001942",
- "HP:0001510",
- "HP:0003109",
- "HP:0002748",
- "HP:0002979",
+ "HP:0002148",
+ "HP:0002206",
+ "HP:0004912",
+ "HP:0002857",
+ "HP:0004918",
+ "HP:0045051",
+ "HP:0000093",
"HP:0003076",
- "HP:0000083",
- "HP:0004322",
+ "HP:0002097",
"HP:0003355",
- "HP:0003126",
+ "HP:0005576",
+ "HP:0003774",
+ "HP:0000822",
+ "HP:0030078",
],
"has_phenotype_label": [
- "Elevated circulating creatinine concentration",
- "Metabolic acidosis",
- "Growth delay",
- "Hyperphosphaturia",
- "Rickets",
- "Bowing of the legs",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Hyperchloremic metabolic acidosis",
+ "Decreased DLCO",
+ "Proteinuria",
"Glycosuria",
- "Renal insufficiency",
- "Short stature",
+ "Emphysema",
"Aminoaciduria",
- "Low-molecular-weight proteinuria",
+ "Tubulointerstitial fibrosis",
+ "Stage 5 chronic kidney disease",
+ "Hypertension",
+ "Lung adenocarcinoma",
],
"has_phenotype_closure": [
- "CHEBI:33839",
- "HP:0020129",
- "CHEBI:16670",
- "CHEBI:16541",
- "HP:0003126",
- "CHEBI:33674",
- "HP:0025745",
- "CHEBI:36586",
- "CHEBI:33608",
- "CHEBI:24651",
- "HP:0031980",
- "CHEBI:33709",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:50047",
- "UPHENO:0046286",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0069062",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0075195",
- "HP:0004322",
- "UPHENO:0002426",
- "UBERON:0005172",
- "UBERON:0005177",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
+ "HP:0100526",
+ "HP:0002664",
+ "HP:0100606",
+ "HP:0030358",
+ "UBERON:0000055",
+ "UBERON:0001981",
+ "UBERON:0034923",
+ "HP:0001626",
+ "UPHENO:0002406",
+ "HP:0011025",
+ "UBERON:0004535",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0032263",
"UPHENO:0002360",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "HP:0012211",
"HP:0000083",
- "UBERON:0013702",
- "UBERON:0011676",
- "UPHENO:0003025",
+ "UPHENO:0002377",
+ "HP:0012622",
+ "UPHENO:0004791",
+ "UPHENO:0003941",
+ "HP:0005576",
+ "UBERON:0006555",
+ "UBERON:0005173",
+ "UPHENO:0005141",
+ "HP:0000091",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "HP:0001969",
+ "UPHENO:0003430",
"UPHENO:0003093",
- "UPHENO:0003413",
- "UPHENO:0002803",
- "UPHENO:0003088",
+ "UBERON:0009773",
+ "UBERON:0007684",
+ "UBERON:0004211",
+ "UBERON:0004122",
"UBERON:0000916",
- "UBERON:0002100",
- "UBERON:0002417",
- "UPHENO:0002246",
- "UPHENO:0002377",
- "UPHENO:0003094",
+ "HP:0002814",
+ "UBERON:0011143",
+ "UPHENO:0003086",
+ "UPHENO:0076756",
+ "UBERON:0001285",
"UPHENO:0002909",
- "HP:0033354",
- "UPHENO:0068054",
- "UBERON:0002113",
- "UPHENO:0081544",
+ "UBERON:0004819",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UPHENO:0005285",
+ "HP:0025745",
+ "HP:0010935",
+ "CHEBI:35605",
+ "UPHENO:0049587",
+ "HP:0003355",
+ "UPHENO:0068169",
+ "UBERON:0000170",
+ "UPHENO:0087427",
+ "CHEBI:33608",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UBERON:0010740",
+ "UPHENO:0046286",
+ "UBERON:0011582",
+ "CHEBI:33575",
+ "UPHENO:0075945",
+ "MPATH:597",
+ "UPHENO:0005214",
+ "MPATH:596",
+ "MPATH:25",
+ "UPHENO:0031123",
+ "MPATH:1000",
+ "UPHENO:0051635",
+ "UBERON:0013702",
+ "HP:0002097",
+ "HP:6000531",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
- "UPHENO:0089294",
+ "UBERON:0010538",
"CHEBI:16646",
"CHEBI:78616",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0002585",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UBERON:0005055",
- "UPHENO:0081424",
- "UBERON:0010740",
- "UBERON:0004709",
- "UBERON:0000475",
- "UPHENO:0069254",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0086780",
- "HP:0040064",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0011314",
- "UPHENO:0084763",
- "UPHENO:0068049",
- "UBERON:0002103",
- "UPHENO:0002536",
- "GO:0001503",
- "UPHENO:0049874",
- "UPHENO:0001002",
- "UBERON:0002513",
- "GO:0040007",
- "HP:0001942",
- "UPHENO:0002944",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "CHEBI:25367",
- "UPHENO:0002530",
- "HP:0000118",
- "CHEBI:38101",
- "UBERON:0000467",
- "BFO:0000003",
- "HP:0001871",
- "UPHENO:0089764",
- "CHEBI:64709",
- "CHEBI:25693",
- "HP:6000531",
- "CHEBI:72695",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0003050",
- "UPHENO:0002963",
- "UBERON:0004122",
- "HP:0002157",
- "CHEBI:35605",
- "HP:0004364",
- "UPHENO:0081423",
- "UBERON:0015061",
+ "HP:0030078",
+ "HP:0003076",
+ "CHEBI:33285",
+ "HP:0045051",
"CHEBI:36963",
- "CHEBI:26020",
- "UBERON:0000179",
- "UPHENO:0002559",
- "CHEBI:33670",
- "UPHENO:0031339",
- "CHEBI:24532",
- "UBERON:0000061",
- "UBERON:0000463",
+ "HP:0100529",
+ "HP:0000119",
"UPHENO:0051686",
- "CHEBI:32988",
- "UPHENO:0002983",
- "CHEBI:16737",
- "UBERON:0001062",
- "UPHENO:0002554",
- "UPHENO:0002422",
- "UPHENO:0079534",
- "UBERON:0013701",
- "UPHENO:0082536",
- "BFO:0000004",
- "UBERON:0000468",
+ "UPHENO:0089294",
+ "UBERON:0004375",
+ "HP:0003110",
+ "HP:0000093",
+ "UPHENO:0068491",
+ "MPATH:0",
+ "UBERON:0000174",
+ "CHEBI:50860",
+ "UPHENO:0031276",
+ "CHEBI:25806",
+ "UBERON:0003914",
+ "HP:0002813",
+ "CHEBI:16541",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "UBERON:0000072",
+ "UPHENO:3000004",
+ "HP:0000822",
+ "UBERON:0001465",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "CHEBI:33839",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0004418",
+ "UPHENO:0002442",
+ "UPHENO:0002554",
+ "UBERON:0000064",
"UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0081581",
- "CHEBI:24431",
- "GO:0008152",
- "CHEBI:51143",
"CHEBI:36962",
- "UBERON:0001088",
- "UPHENO:0048707",
- "CHEBI:55370",
- "UBERON:0004769",
- "GO:0042592",
- "UPHENO:0075902",
- "CHEBI:23367",
- "CHEBI:33302",
- "CHEBI:33595",
- "UPHENO:0051739",
- "UPHENO:0002650",
- "BFO:0000020",
- "HP:0003110",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0000541",
- "UPHENO:0004503",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UPHENO:0078550",
+ "HP:0045049",
+ "HP:0012337",
+ "CHEBI:35352",
+ "GO:0032501",
+ "HP:0001942",
+ "HP:0002088",
"HP:0001941",
- "UPHENO:0082539",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0001510",
- "UBERON:0002390",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0030878",
+ "MPATH:31",
+ "UBERON:0000075",
"UPHENO:0002532",
+ "UPHENO:0002750",
+ "UPHENO:0068054",
+ "CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0086635",
+ "UPHENO:0002679",
+ "MPATH:14",
+ "UPHENO:0003070",
+ "UPHENO:0002885",
+ "HP:0011844",
+ "UBERON:0034944",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "UPHENO:0005201",
+ "UPHENO:0002593",
+ "HP:0032581",
+ "UPHENO:0002530",
+ "UPHENO:0086628",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UPHENO:0076767",
+ "UPHENO:0003516",
+ "HP:0002857",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "UPHENO:0031228",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0002979",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UPHENO:0086908",
+ "UBERON:0002113",
"BFO:0000040",
- "HP:0040068",
- "HP:0000001",
- "UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UPHENO:0068472",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "HP:0034669",
"UBERON:0000026",
- "HP:0001992",
- "UPHENO:0031166",
- "CHEBI:33256",
- "UPHENO:0068251",
- "UPHENO:0004505",
- "CHEBI:5686",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "BFO:0000001",
- "UPHENO:0002568",
+ "UBERON:0000467",
+ "CHEBI:33582",
"UBERON:0034925",
- "UBERON:0011143",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0000543",
- "UPHENO:0002746",
- "UPHENO:0002442",
- "CHEBI:23443",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UBERON:0002204",
- "UBERON:0000465",
- "UBERON:0001008",
- "CHEBI:24995",
- "CHEBI:37622",
- "HP:0003259",
+ "UPHENO:0002632",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0003094",
+ "UPHENO:0031220",
+ "CHEBI:23367",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0003840",
+ "CHEBI:24833",
+ "UBERON:0010712",
+ "CHEBI:35381",
+ "UBERON:0011249",
+ "UBERON:0015061",
+ "UBERON:0034921",
+ "HP:0012210",
+ "CHEBI:33256",
+ "UBERON:0000468",
+ "UBERON:0004905",
+ "UPHENO:0002585",
"UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "HP:0012100",
- "HP:0012591",
- "CHEBI:25806",
- "UPHENO:0077817",
- "UPHENO:0046284",
- "CHEBI:33582",
+ "CHEBI:33674",
+ "UBERON:0000483",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "HP:0030972",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0003657",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "HP:0004912",
+ "CHEBI:32988",
+ "UPHENO:0003005",
+ "HP:0003330",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UBERON:0001008",
+ "HP:0001367",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0003227",
+ "UPHENO:0041591",
+ "UBERON:0004288",
"UPHENO:0031142",
- "HP:0032943",
- "UPHENO:0068346",
- "UBERON:0001015",
- "UPHENO:0004459",
- "UPHENO:0002754",
- "CHEBI:33661",
- "HP:0004360",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0051804",
- "UPHENO:0031228",
- "CHEBI:33579",
- "UPHENO:0068352",
- "UPHENO:0068442",
- "GO:0008150",
- "CHEBI:36357",
- "UPHENO:0082834",
- "HP:0430071",
- "PATO:0000001",
- "UPHENO:0069266",
- "HP:0011842",
- "CHEBI:33675",
- "UPHENO:0052038",
- "UBERON:0001977",
- "UPHENO:0002830",
- "CHEBI:50860",
- "HP:0032180",
- "UPHENO:0002525",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UBERON:0002075",
+ "HP:0011314",
+ "CHEBI:33238",
+ "HP:0006487",
+ "UPHENO:0087993",
+ "CHEBI:24867",
+ "UPHENO:0031271",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "HP:0012575",
+ "UPHENO:0002600",
+ "UPHENO:0068110",
+ "UPHENO:0002816",
+ "UPHENO:0051709",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "GO:0001503",
"UPHENO:0051763",
- "UBERON:0011582",
- "UPHENO:0051630",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:33304",
- "CHEBI:35352",
- "UPHENO:0076286",
- "UBERON:0002193",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003049",
- "CHEBI:26082",
- "CHEBI:35381",
- "HP:0003109",
- "HP:0000077",
- "UPHENO:0005214",
- "UPHENO:0051900",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "HP:0011277",
- "UBERON:0000489",
- "UPHENO:0068110",
- "CHEBI:26079",
- "HP:0012599",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UBERON:0008784",
"HP:0000079",
- "UPHENO:0002269",
- "CHEBI:37577",
+ "UBERON:0000383",
+ "UBERON:0005913",
+ "UPHENO:0002746",
+ "UPHENO:0003066",
+ "CHEBI:50047",
"HP:0000924",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "UBERON:0000982",
+ "BFO:0000003",
+ "UPHENO:0087433",
+ "UPHENO:0002870",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0004769",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0076727",
"HP:0033127",
- "UPHENO:0003411",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
+ "HP:0033354",
+ "UBERON:0002471",
+ "UBERON:0005177",
+ "UPHENO:0076703",
+ "UPHENO:0002832",
"UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0076692",
- "GO:0032501",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0002949",
- "UBERON:0004288",
- "UPHENO:0076740",
+ "UPHENO:0002559",
+ "UPHENO:0081544",
+ "UPHENO:0076714",
"UPHENO:0003432",
- "UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0000174",
- "CHEBI:36360",
- "UBERON:0010000",
+ "UBERON:0010363",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "UPHENO:0002734",
"UBERON:0001474",
+ "UBERON:0001005",
+ "UBERON:0000025",
"UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "HP:0011849",
+ "UBERON:0004765",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0004770",
+ "HP:0011842",
+ "UPHENO:0002636",
+ "UBERON:0010709",
+ "UPHENO:0002783",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "GO:0008152",
+ "HP:0001939",
+ "CHEBI:72695",
+ "UPHENO:0081581",
+ "HP:0002815",
+ "UPHENO:0004536",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "UBERON:0001009",
+ "UBERON:0002193",
+ "UPHENO:0076294",
+ "UBERON:0002204",
+ "HP:0002206",
+ "CHEBI:36360",
+ "HP:0004348",
+ "HP:0002795",
+ "UPHENO:0002267",
+ "UPHENO:0003413",
+ "BFO:0000001",
+ "UPHENO:0002574",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "UPHENO:0002269",
"UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000062",
- "UPHENO:0002964",
- "UBERON:0001434",
- "HP:0002981",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UPHENO:0068064",
- "CHEBI:33832",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002785",
- "HP:0000119",
- "UPHENO:0086635",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0003005",
- "UBERON:0002471",
- "HP:0006487",
- "UPHENO:0031122",
+ "CHEBI:15841",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "UBERON:0005181",
+ "UPHENO:0002448",
"UPHENO:0031318",
- "UBERON:0010363",
- "CHEBI:38304",
- "UPHENO:0002600",
- "UBERON:0004375",
- "UBERON:0004708",
- "UPHENO:0003799",
- "HP:0000940",
- "UBERON:0005173",
- "UBERON:0004381",
+ "UPHENO:0041098",
+ "UBERON:0000475",
+ "UPHENO:0002531",
+ "UBERON:0002048",
+ "CHEBI:37622",
+ "CHEBI:33302",
+ "UBERON:0013701",
"UBERON:0015212",
- "UBERON:0002529",
- "UPHENO:0041591",
- "UBERON:0003823",
+ "HP:0032180",
+ "UPHENO:0003025",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0084763",
+ "UPHENO:0002526",
+ "UPHENO:0031302",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0041573",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0051739",
+ "UBERON:0001558",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "HP:0000940",
"UPHENO:0080300",
- "UPHENO:0002896",
- "UPHENO:0002648",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UBERON:0000064",
- "UBERON:0011249",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "CHEBI:38261",
- "UPHENO:0003812",
- "UPHENO:0004909",
+ "UPHENO:0002785",
+ "UBERON:0000915",
+ "CHEBI:15693",
+ "UPHENO:0076299",
+ "UBERON:0004537",
+ "UBERON:0011676",
+ "CHEBI:36359",
+ "UBERON:0002091",
+ "UPHENO:0002668",
+ "UBERON:0000061",
"UBERON:0000178",
- "UPHENO:0002632",
- "CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0000154",
- "UPHENO:0003516",
+ "UBERON:0004119",
+ "UPHENO:0003812",
+ "CHEBI:33304",
+ "UPHENO:0002568",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "HP:0011793",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "UPHENO:0075902",
+ "UPHENO:0076692",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0011849",
+ "GO:0008150",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "HP:0006530",
+ "BFO:0000002",
+ "CHEBI:24651",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
"UPHENO:0003095",
- "UPHENO:0076727",
- "UBERON:0006058",
- "UPHENO:0051894",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
- "CHEBI:33917",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "HP:0002814",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0041610",
+ "UBERON:0000463",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UPHENO:0002949",
+ "HP:0004349",
+ "CHEBI:64709",
+ "UBERON:0002049",
+ "UPHENO:0002964",
+ "UBERON:0004708",
+ "UBERON:0000065",
+ "BFO:0000004",
+ "UBERON:0000489",
+ "CHEBI:26020",
+ "UPHENO:0051960",
+ "UBERON:0002513",
+ "GO:0009987",
+ "UPHENO:0084653",
+ "UBERON:0001088",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0002390",
+ "UPHENO:0087462",
+ "UPHENO:0002859",
+ "UPHENO:0031166",
+ "CHEBI:33675",
+ "UPHENO:0002648",
+ "HP:0100491",
+ "UBERON:0002100",
+ "UPHENO:0002643",
+ "UBERON:0000179",
+ "UBERON:0010000",
+ "UPHENO:0002803",
+ "UPHENO:0046284",
+ "CHEBI:51143",
+ "UPHENO:0003065",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "UPHENO:0003084",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "UPHENO:0002246",
+ "HP:0003111",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "UPHENO:3000003",
+ "UPHENO:0002411",
+ "UPHENO:0049904",
+ "HP:0030760",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
+ "UPHENO:0066739",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0003015",
+ "UPHENO:0002963",
],
"has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
+ "Neoplasm of the lung",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "Lung adenocarcinoma",
+ "Non-small cell lung carcinoma",
+ "cardiovascular system",
+ "circulatory system",
+ "blood vessel",
+ "blood vasculature",
+ "Increased blood pressure",
+ "vascular system",
+ "Hypertension",
+ "vessel",
+ "cardiovascular system phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Renal insufficiency",
+ "Stage 5 chronic kidney disease",
+ "organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "abdominal segment element phenotype",
+ "upper urinary tract phenotype",
+ "nephron tubule",
+ "abdomen",
+ "epithelial tube",
+ "excretory tube phenotype",
+ "kidney",
+ "upper urinary tract",
+ "nephron morphology phenotype",
+ "nephron tubule morphology phenotype",
+ "Tubulointerstitial fibrosis",
+ "abdomen element",
+ "neoplasm phenotype",
+ "hindlimb",
+ "zone of bone organ",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "bone element, curved phenotype",
+ "renal system morphology phenotype",
+ "excretory tube",
+ "tissue",
+ "organic acid",
+ "nephron tubule phenotype",
+ "kidney epithelium phenotype",
+ "increased level of organic acid in urine",
+ "organic oxo compound",
+ "pelvic appendage phenotype",
"urine amino acid level phenotype",
- "carbonyl compound",
"carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "nephron epithelium phenotype",
+ "molecule",
"amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
+ "pathological phenotype observation",
+ "emphysema",
+ "Abnormality of bone mineral density",
"oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
+ "cell and tissue damage process",
+ "tube phenotype",
+ "endochondral bone",
+ "pathological process",
+ "pathological entity",
+ "urine glucose level phenotype",
"cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
+ "carbohydrate",
+ "Abnormal urinary organic compound level",
+ "homeostatic process",
+ "polypeptide",
+ "increased level of chemical entity",
+ "Proteinuria",
+ "curved anatomical entity",
"cavitated compound organ",
- "abdominal segment element",
- "abdomen",
- "cavitated compound organ physiology phenotype",
+ "peptide",
+ "organic amino compound",
+ "urine",
+ "genitourinary system phenotype",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "ossification",
+ "protein polypeptide chain",
+ "abdomen element phenotype",
+ "heteroorganic entity",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "nitrogen molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "Decreased DLCO",
+ "nephron epithelium",
"compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
+ "Acidosis",
+ "Abnormality of acid-base homeostasis",
+ "Abnormal respiratory system physiology",
+ "excreta",
+ "tube",
+ "Metabolic acidosis",
"lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal system phenotype",
+ "lateral structure physiology phenotype",
+ "Abnormal homeostasis",
+ "hydroxides",
+ "Hyperchloremic metabolic acidosis",
+ "material entity",
+ "leg",
+ "abdominal segment element",
+ "hindlimb zeugopod morphology phenotype",
+ "limb",
+ "subdivision of organism along appendicular axis",
+ "Bowing of the legs",
+ "increased urine role level",
"bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
+ "limb skeleton subdivision phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "Abnormality of the lower limb",
+ "Emphysema",
"appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
"renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
+ "curvature anatomical entity",
"zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "anatomical conduit phenotype",
"Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
+ "hindlimb joint phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "articular system",
+ "limb segment phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "Hyperchloremic acidosis",
+ "knee morphology phenotype",
+ "articulation",
+ "macromolecule",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "viscus",
+ "paired limb/fin skeleton",
+ "carboxamide",
"lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormality of lower limb joint",
+ "shape hindlimb zeugopod",
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "anatomical cluster",
+ "multi organ part structure",
+ "leg phenotype",
+ "multi organ part structure phenotype",
+ "limb endochondral element phenotype",
+ "respiratory system physiology phenotype",
+ "skeletal joint phenotype",
+ "subdivision of skeleton phenotype",
+ "zeugopod, curved phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "uriniferous tubule",
+ "skeleton of limb",
+ "pelvic appendage",
+ "limb joint",
+ "process of degenerative change",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Abnormal bone structure",
+ "Abnormality on pulmonary function testing",
"endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
+ "decreased level of phosphate in blood",
+ "renal tubule",
+ "limb segment, curved phenotype",
+ "carbonyl compound",
+ "nephron",
+ "appendage phenotype",
+ "kidney epithelium morphology phenotype",
+ "knee",
+ "chemical entity",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "skeletal joint",
+ "carboxylic acid",
+ "long bone",
+ "skeleton",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "phosphate level phenotype",
+ "limb skeleton subdivision",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "organism subdivision, curved phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
"limb bone",
+ "increased level of monosaccharide in urine",
+ "subdivision of organism along main body axis",
+ "organonitrogen compound",
+ "phosphorus oxoacid derivative",
+ "shape of continuant phenotype",
+ "Abnormality of the knee",
+ "respiration organ",
+ "limb bone morphology phenotype",
+ "continuant",
+ "increased level of glucose in urine",
+ "disconnected anatomical group",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "skeletal system",
+ "musculature of body phenotype",
+ "musculoskeletal system",
+ "Glycosuria",
+ "Abnormal limb bone morphology",
+ "Abnormal long bone morphology",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "multicellular organism chemical entity level phenotype",
+ "endochondral bone phenotype",
+ "aldose",
"organism substance phenotype",
+ "organ system subdivision",
+ "hindlimb joint",
+ "cardiovascular system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "curved long bone",
+ "shape long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
+ "Decreased anatomical entity mass density",
"subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
+ "Abnormality of the skeletal system",
+ "Renal fibrosis",
+ "Abnormal bone ossification",
+ "primary amide",
+ "Rickets",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "occurrent",
+ "subdivision of tube",
+ "anatomical structure phenotype",
+ "respiratory tract",
"chemical entity level phenotype",
+ "paired limb/fin phenotype",
+ "epithelium",
+ "anatomical collection phenotype",
+ "kidney epithelium",
"anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
+ "trunk phenotype",
+ "lateral structure phenotype",
+ "trunk",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "Abnormal renal tubule morphology",
+ "Abnormal cardiovascular system physiology",
"molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
- "body proper",
- "entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
- "organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
+ "anatomical structure physiology phenotype",
+ "system",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multi-limb segment region phenotype",
"Abnormal skeletal morphology",
+ "thoracic segment of trunk",
+ "organ part",
"limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
- "limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
+ "role urine level phenotype",
+ "Pulmonary fibrosis",
"excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
+ "Abnormality of the urinary system",
"phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
+ "subdivision of skeletal system",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
"anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
+ "Hypophosphatemic rickets",
+ "process",
+ "respiration organ phenotype",
+ "Abnormal systemic blood pressure",
"bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
- "delayed growth",
+ "haemolymphatic fluid phenotype",
+ "viscus phenotype",
+ "lower respiratory tract",
+ "lung morphology phenotype",
+ "posterior region of body",
+ "main body axis",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "genitourinary system",
+ "thoracic cavity element",
+ "p-block molecular entity",
+ "bone of appendage girdle complex phenotype",
+ "taxon specific phenotype",
+ "respiratory system",
+ "endoderm-derived structure",
+ "material anatomical entity physiology phenotype",
+ "decreased level of chemical entity in blood",
+ "organ part phenotype",
"Decreased bone element mass density",
- "musculature of body phenotype",
- "organ",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
+ "hindlimb zeugopod",
+ "body proper",
+ "Chronic kidney disease",
+ "entity",
"paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
+ "oxoacid derivative",
+ "monosaccharide",
+ "thoracic segment organ",
+ "limb bone phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "blood phosphate level phenotype",
+ "lung phenotype",
+ "articulation phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "Abnormality of the upper urinary tract",
+ "Abnormal joint morphology",
+ "zone of long bone",
+ "All",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "appendage",
+ "organism subdivision phenotype",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "subdivision of organism along main body axis phenotype",
+ "knee phenotype",
+ "Abnormal pulmonary interstitial morphology",
+ "homeostatic process phenotype",
"bone element",
- "organic heteromonocyclic compound",
- "musculature of body",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "skeletal system phenotype",
- "bone element mass density phenotype",
- "skeleton",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "limb endochondral element",
+ "musculature",
+ "Abnormality of the urinary system physiology",
+ "limb segment",
+ "subdivision of trunk",
+ "zone of organ",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "renal system",
+ "Abnormality of the kidney",
+ "Abnormal DLCO",
+ "Abnormal blood phosphate concentration",
+ "trunk region element",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "anatomical entity fibrosis",
+ "tissue specific degenerative process",
+ "hexose",
+ "amide",
+ "Abnormal renal insterstitial morphology",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, curved phenotype",
+ "independent continuant",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "blood monoatomic ion level phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of metabolism/homeostasis",
+ "tissue phenotype",
+ "respiratory airway",
+ "lung",
+ "Abnormality of the cardiovascular system",
+ "glucose",
+ "pair of lungs",
+ "skeletal joint morphology phenotype",
"organ phenotype",
- "ossification",
- "zeugopod phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "Abnormal tubulointerstitial morphology",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
+ "multicellular anatomical structure, curved phenotype",
+ "polyatomic entity",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "blood",
+ "haemolymphatic fluid",
+ "Abnormal respiratory system morphology",
"material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
- "organ part",
- "chalcogen molecular entity",
- "zone of bone organ",
- "bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
+ "biological_process phenotype",
"abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
+ "ion",
+ "phosphorus oxoacids and derivatives",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "monoatomic entity",
+ "musculature phenotype",
+ "anatomical structure",
+ "compound organ phenotype",
+ "anatomical entity",
+ "musculoskeletal system phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "skeleton phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "Abnormal knee morphology",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "hemolymphoid system",
+ "thoracic cavity element phenotype",
+ "cellular process",
+ "abdominal segment of trunk",
+ "paired limb/fin segment, curved phenotype",
+ "hindlimb phenotype",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "compound organ",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "bodily fluid phenotype",
+ "Genu valgum",
+ "endoderm-derived structure phenotype",
+ "Abnormal nephron morphology",
+ "lung fibrosis",
+ "phosphorus molecular entity",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "aldohexose",
+ "Neoplasm by anatomical site",
+ "Abnormal urine metabolite level",
+ "Abnormal lung morphology",
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 14,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0014275",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi renotubular syndrome 3",
"full_name": None,
"deprecated": None,
- "description": None,
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0003259",
"HP:0001942",
- "HP:0002148",
- "HP:0000124",
+ "HP:0001510",
"HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
"HP:0002748",
- "HP:0034359",
+ "HP:0002979",
"HP:0003076",
- "HP:0003155",
"HP:0000083",
- "HP:0003355",
"HP:0004322",
+ "HP:0003355",
"HP:0003126",
- "HP:0001324",
],
"has_phenotype_label": [
+ "Elevated circulating creatinine concentration",
"Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
+ "Growth delay",
"Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
"Rickets",
- "Impaired renal tubular reabsorption of phosphate",
+ "Bowing of the legs",
"Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
"Renal insufficiency",
- "Aminoaciduria",
"Short stature",
+ "Aminoaciduria",
"Low-molecular-weight proteinuria",
- "Muscle weakness",
],
"has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
"HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:33839",
"HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
+ "UPHENO:0068565",
+ "HP:0025745",
+ "HP:0003355",
+ "UPHENO:0068169",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
"CHEBI:33575",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
"UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
+ "UPHENO:0069254",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0002422",
+ "UPHENO:0003025",
+ "UPHENO:0002426",
+ "UBERON:0005173",
+ "HP:0012211",
+ "HP:0000083",
+ "UBERON:0005172",
"UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
+ "UPHENO:0003050",
+ "UBERON:0002113",
+ "UBERON:0002100",
"HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
+ "UBERON:0009569",
+ "UPHENO:0075902",
+ "UPHENO:0089294",
"UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
+ "HP:6000531",
+ "CHEBI:17234",
+ "UBERON:0013702",
+ "CHEBI:15693",
+ "CHEBI:18133",
+ "CHEBI:16646",
"HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
+ "UPHENO:0002750",
+ "UPHENO:0003070",
+ "HP:0011844",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "UPHENO:0086628",
+ "UPHENO:0076740",
+ "UBERON:0004375",
+ "UBERON:0003103",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0034925",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0002648",
+ "UPHENO:0002650",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "HP:0002813",
+ "UPHENO:0031228",
+ "UPHENO:0002785",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "CHEBI:15841",
+ "UBERON:0000064",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0031220",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0010712",
+ "UBERON:0011249",
+ "UPHENO:0041536",
+ "CHEBI:33674",
+ "HP:0002814",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0002386",
+ "UPHENO:0031123",
+ "CHEBI:35381",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UBERON:0000075",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "UPHENO:0031302",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UPHENO:0068491",
+ "UBERON:0010709",
+ "UBERON:0010707",
"UPHENO:0069266",
+ "UPHENO:0003227",
+ "UBERON:0004288",
+ "UPHENO:0002830",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0031142",
+ "HP:0011314",
+ "UPHENO:0084763",
+ "UPHENO:0002427",
+ "UPHENO:0005214",
+ "UBERON:0004708",
+ "HP:0000924",
+ "UBERON:0034944",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "UPHENO:0002600",
+ "UPHENO:0031276",
+ "UPHENO:0068110",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "HP:0000940",
+ "UPHENO:0080300",
+ "UPHENO:0003516",
+ "HP:0004348",
+ "UPHENO:0002976",
+ "UPHENO:0002377",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
"HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
- "GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
+ "UPHENO:0082834",
+ "BFO:0000003",
+ "UPHENO:0002870",
+ "UBERON:0001015",
+ "BFO:0000040",
+ "HP:0033127",
+ "UPHENO:0002832",
"HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
+ "UPHENO:0076286",
+ "UPHENO:0005092",
+ "UPHENO:0002559",
"UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
- "UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
+ "UPHENO:0003432",
+ "UPHENO:0002526",
"HP:0032180",
+ "UBERON:0000062",
+ "UPHENO:0002267",
+ "HP:0003109",
+ "HP:0001507",
+ "HP:0002748",
"HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
+ "UBERON:0000174",
+ "UBERON:0011676",
+ "UBERON:0002091",
+ "CHEBI:36359",
+ "UPHENO:0080352",
+ "UBERON:0000383",
"HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:3000004",
"UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
+ "UBERON:0005177",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0002530",
+ "UBERON:0001088",
"UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
+ "UPHENO:0046348",
+ "HP:0000077",
+ "CHEBI:37577",
+ "CHEBI:23443",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UPHENO:0031271",
+ "UPHENO:0002803",
+ "UPHENO:0068054",
+ "UPHENO:0086635",
"HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
+ "UPHENO:0002642",
+ "UPHENO:0003413",
+ "UPHENO:0000543",
+ "UBERON:0010363",
+ "UPHENO:0084654",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0012337",
"CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
+ "HP:0001942",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0001941",
+ "UBERON:0004769",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "UPHENO:0041591",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "BFO:0000001",
+ "UBERON:0002513",
+ "GO:0009987",
"UPHENO:0084653",
- "HP:0012337",
+ "CHEBI:36963",
+ "UBERON:0001434",
+ "UPHENO:0003005",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "HP:0012591",
+ "CHEBI:33579",
+ "UPHENO:0075195",
+ "UPHENO:0002360",
+ "GO:0008150",
+ "UPHENO:0002861",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0003812",
+ "CHEBI:33661",
+ "UPHENO:0002385",
+ "UPHENO:0004459",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0068049",
+ "UPHENO:0068442",
+ "UPHENO:0003088",
+ "UPHENO:0041573",
+ "UPHENO:0089764",
+ "UPHENO:0002949",
+ "UPHENO:0076285",
+ "HP:0002979",
+ "UPHENO:0002632",
+ "HP:0430071",
+ "CHEBI:33582",
+ "UBERON:0002193",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "CHEBI:24833",
+ "CHEBI:33670",
+ "CHEBI:25367",
+ "CHEBI:38261",
+ "BFO:0000002",
+ "CHEBI:36587",
+ "UPHENO:0002593",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "HP:0003259",
+ "CHEBI:33595",
+ "UPHENO:0001001",
"UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
+ "UPHENO:0081423",
+ "UPHENO:0003095",
+ "UBERON:0000463",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0001062",
+ "UBERON:0002529",
+ "UPHENO:0068251",
+ "HP:0004364",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "GO:0001503",
+ "UBERON:0000026",
+ "UPHENO:0079534",
+ "CHEBI:24532",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0082539",
+ "HP:0006487",
+ "CHEBI:33304",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UPHENO:0002536",
+ "CHEBI:38304",
+ "CHEBI:33302",
+ "UBERON:0005913",
"HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
+ "CHEBI:64709",
+ "UBERON:0000489",
+ "GO:0042592",
"UPHENO:0002964",
- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
+ "UPHENO:0002731",
+ "HP:0012100",
+ "CHEBI:24431",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0006314",
+ "UPHENO:0001003",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "HP:0002157",
+ "UPHENO:0002532",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UBERON:0004765",
+ "UPHENO:0068346",
+ "UPHENO:0003094",
+ "UPHENO:0003065",
+ "CHEBI:51143",
+ "BFO:0000004",
+ "CHEBI:78616",
+ "UPHENO:0082536",
+ "UBERON:0002390",
+ "CHEBI:5686",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "CHEBI:55370",
+ "UPHENO:0051686",
+ "CHEBI:24651",
+ "UPHENO:0002246",
+ "UBERON:0010538",
+ "CHEBI:36360",
+ "UPHENO:0002909",
+ "UPHENO:0000541",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "CHEBI:37622",
+ "UPHENO:0076692",
+ "UPHENO:0051630",
+ "CHEBI:24995",
+ "CHEBI:35605",
+ "UPHENO:0052038",
+ "UPHENO:0031166",
+ "UPHENO:0002554",
+ "CHEBI:72695",
+ "CHEBI:16737",
+ "CHEBI:25806",
+ "UBERON:0008784",
+ "HP:0003330",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "UPHENO:0002585",
+ "CHEBI:33256",
+ "UBERON:0001977",
+ "UBERON:0000475",
+ "UPHENO:0041098",
+ "GO:0032501",
+ "UBERON:0002204",
+ "UPHENO:0068064",
+ "CHEBI:26020",
+ "UPHENO:0002411",
+ "UBERON:0000179",
+ "UPHENO:0068472",
+ "UBERON:0001969",
+ "HP:0000001",
+ "UPHENO:0077826",
+ "UBERON:0000468",
+ "UBERON:0000178",
+ "UPHENO:0051894",
+ "UBERON:0011143",
+ "CHEBI:25693",
+ "UPHENO:0031318",
+ "UPHENO:0051900",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0000119",
+ "HP:0011849",
+ "UPHENO:0004505",
+ "UPHENO:0049904",
+ "UPHENO:0078550",
+ "CHEBI:38101",
+ "UBERON:0000061",
+ "CHEBI:33241",
+ "UBERON:0000467",
+ "UPHENO:0002963",
+ "UPHENO:0002308",
+ "UPHENO:0068352",
+ "UPHENO:0051763",
+ "CHEBI:33832",
+ ],
+ "has_phenotype_closure_label": [
+ "Proteinuria",
+ "Abnormal urine protein level",
+ "protein polypeptide chain",
+ "increased level of organic acid in urine",
"organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
+ "urine amino acid level phenotype",
+ "carbon oxoacid",
+ "s-block molecular entity",
+ "hydroxides",
+ "amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "multicellular organism height phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "Abnormality of the kidney",
+ "trunk",
+ "compound organ physiology phenotype",
+ "upper urinary tract",
+ "subdivision of trunk",
"subdivision of organism along main body axis phenotype",
+ "cavitated compound organ phenotype",
+ "abdomen element",
"abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
+ "peptide",
"cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
+ "kidney phenotype",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
+ "lateral structure physiology phenotype",
+ "compound organ",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "urine glucose level phenotype",
+ "carbohydrate",
+ "organ physiology phenotype",
+ "role urine level phenotype",
+ "glucose",
+ "aldohexose",
+ "Abnormal urinary organic compound level",
+ "leg",
+ "abdominal segment element",
+ "limb",
+ "limb segment",
+ "zone of organ",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "anatomical collection phenotype",
+ "Bowing of the legs",
+ "bone of free limb or fin phenotype",
+ "increased level of protein polypeptide chain in urine",
+ "appendicular skeleton phenotype",
+ "hindlimb morphology phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Abnormality of the calf",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "zone of bone organ",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "abdominal segment of trunk",
+ "subdivision of organism along appendicular axis phenotype",
+ "decreased size of the material anatomical entity",
+ "limb segment phenotype",
+ "limb morphology phenotype",
+ "subdivision of skeletal system",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "lateral structure",
+ "macromolecule",
+ "Abnormality of limb bone",
+ "bone element, curved phenotype",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "limb endochondral element phenotype",
+ "lower limb segment, curved phenotype",
+ "anatomical entity morphology in the pelvic complex phenotype",
"cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
+ "Abnormal appendicular skeleton morphology",
+ "shape hindlimb zeugopod",
"body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
+ "hindlimb zeugopod",
+ "main body axis",
+ "posterior region of body",
+ "anatomical collection",
"abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
+ "leg phenotype",
+ "subdivision of skeleton phenotype",
+ "trunk phenotype",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "skeleton of limb",
+ "curvature anatomical entity",
+ "endochondral bone",
+ "appendicular skeleton morphology phenotype",
+ "long bone phenotype",
+ "bone of appendage girdle complex",
+ "zeugopod, curved phenotype",
+ "endochondral element phenotype",
+ "limb segment, curved phenotype",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod morphology phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "organ, curved phenotype",
+ "limb bone",
+ "pelvic appendage phenotype",
+ "increased level of monosaccharide in urine",
+ "phosphorus oxoacid derivative",
+ "organonitrogen compound",
+ "shape of continuant phenotype",
+ "curved anatomical entity",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "heteroatomic molecular entity",
+ "Reduced bone mineral density",
+ "homeostatic process phenotype",
+ "bone element",
+ "abdomen",
+ "increased urine role level",
"musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
+ "Abnormality of bone mineral density",
+ "Glycosuria",
+ "Abnormal long bone morphology",
+ "skeletal system",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "multicellular organism chemical entity level phenotype",
+ "lactam",
+ "endochondral bone phenotype",
+ "aldose",
+ "appendicular skeleton",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "shape long bone",
+ "organ system subdivision",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "multi-limb segment region phenotype",
+ "Aminoaciduria",
+ "musculature",
+ "trunk region element phenotype",
+ "zone of long bone",
+ "organism subdivision phenotype",
+ "All",
+ "skeletal element phenotype",
+ "bone element phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "Abnormal urine phosphate concentration",
"anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "genitourinary system",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "excretory system",
+ "phosphate",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
"anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
+ "urine",
+ "genitourinary system phenotype",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "curved long bone",
+ "phosphorus molecular entity",
+ "Abnormality of the genitourinary system",
"material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
+ "Abnormal homeostasis",
+ "Abnormal circulating nitrogen compound concentration",
+ "renal system phenotype",
+ "renal system",
+ "bone of appendage girdle complex phenotype",
+ "Abnormal bone structure",
+ "hematopoietic system phenotype",
+ "biological_process",
+ "renal/urinary system phenotype",
+ "Decreased bone element mass density",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "oxoacid derivative",
+ "limb bone morphology phenotype",
"urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
+ "pelvic appendage",
+ "delayed growth",
+ "growth",
+ "Growth delay",
+ "system",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "delayed biological_process",
+ "organism subdivision",
"growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
+ "Abnormality of acid-base homeostasis",
+ "limb phenotype",
+ "appendage girdle complex",
+ "phosphorus oxoacids and derivatives",
+ "excreta",
+ "Metabolic acidosis",
+ "blood serum",
+ "blood plasma",
+ "cyclic compound",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
+ "Decreased anatomical entity mass density",
+ "limb skeleton subdivision phenotype",
+ "organic molecule",
+ "independent continuant",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "carboxylic acid",
+ "limb skeleton subdivision",
+ "blood chemical entity level phenotype",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "process",
+ "phosphate level phenotype",
+ "occurrent",
+ "increased level of creatinine in blood serum",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "polypeptide",
+ "role bodily fluid level phenotype",
"role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
+ "imidazolidines",
+ "organ phenotype",
+ "homeostatic process",
+ "lateral structure phenotype",
+ "diazolidine",
+ "cyclic amide",
+ "phosphoric acid derivative",
+ "hindlimb",
+ "appendage",
+ "bodily fluid",
+ "organooxygen compound",
+ "organic molecular entity",
+ "Rickets",
+ "primary amide",
+ "size of anatomical entity phenotype",
+ "blood",
+ "haemolymphatic fluid",
+ "Abnormal bone ossification",
+ "material anatomical entity",
"organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
+ "increased level of chemical entity in blood plasma",
+ "Renal insufficiency",
+ "increased level of creatinine in blood",
+ "increased bodily fluid role level",
"musculature of body phenotype",
+ "Abnormality of the musculoskeletal system",
+ "carboxamide",
+ "long bone",
+ "multicellular organism",
+ "oxygen molecular entity",
+ "nitrogen molecular entity",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "musculoskeletal system phenotype",
+ "Acidosis",
+ "blood plasma chemical entity level phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "increased level of chemical entity in blood serum",
+ "heterocyclic compound",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "chalcogen molecular entity",
+ "creatinine",
+ "appendicular skeletal system",
+ "phenotype",
+ "role blood serum level phenotype",
+ "increased level of chemical entity in urine",
"skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
+ "decreased height of the anatomical entity",
+ "abdomen element phenotype",
+ "increased blood role level",
+ "heteroorganic entity",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "increased level of phosphate in urine",
+ "metabolic process",
+ "carbon group molecular entity",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "Azotemia",
+ "organonitrogen heterocyclic compound",
+ "organic heterocyclic compound",
+ "musculature phenotype",
+ "anatomical structure",
+ "blood oxygen molecular entity level phenotype",
+ "carbonyl compound",
+ "appendage phenotype",
+ "Elevated circulating creatinine concentration",
+ "organic cyclic compound",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "increased blood serum role level",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "organic amino compound",
+ "increased level of nitrogen molecular entity in blood",
+ "heteromonocyclic compound",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "oxoacid",
+ "blood serum chemical entity level phenotype",
+ "decreased size of the multicellular organism",
"p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "blood organic molecular entity level phenotype",
+ "paired limb/fin phenotype",
+ "chemical entity level phenotype",
+ "anatomical structure phenotype",
+ "Abnormality of the lower limb",
+ "multicellular anatomical structure phenotype",
+ "imidazolidinone",
+ "trunk region element physiology phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "zeugopod",
+ "renal system physiology phenotype",
+ "bone of free limb or fin",
+ "monocyclic compound",
+ "hindlimb phenotype",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "molecule",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "entity",
+ "Abnormal circulating creatinine concentration",
+ "Low-molecular-weight proteinuria",
"ossification",
- "carbohydrate",
- "skeletal system",
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "Abnormal urinary electrolyte concentration",
+ "Growth abnormality",
+ "organic acid",
+ "taxon specific phenotype",
+ "increased level of chemical entity",
+ "anatomical system phenotype",
+ "blood creatinine level phenotype",
+ "skeleton",
+ "organism substance",
+ "anatomical entity",
+ "Abnormal urine amino acid level",
+ "organic heteromonocyclic compound",
+ "anatomical system physiology phenotype",
+ "increased level of chemical entity in blood",
+ "nitrogen molecular entity level phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "cellular process",
+ "paired limb/fin segment, curved phenotype",
+ "haemolymphatic fluid phenotype",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0100238",
+ "id": "MONDO:0024525",
"category": "biolink:Disease",
- "name": "inherited Fanconi renotubular syndrome",
+ "name": "Fanconi renotubular syndrome 1",
"full_name": None,
"deprecated": None,
- "description": "An instance of Fanconi renotubular syndrome that is inherited.",
- "xref": ["OMIMPS:134600"],
- "provided_by": "phenio_nodes",
- "in_taxon": None,
- "in_taxon_label": None,
- "symbol": None,
- "synonym": ["hereditary Fanconi renotubular syndrome"],
- "uri": None,
- "iri": None,
- "namespace": "MONDO",
- "has_phenotype": None,
- "has_phenotype_label": None,
- "has_phenotype_closure": None,
- "has_phenotype_closure_label": None,
- "has_phenotype_count": 0,
- "highlight": None,
- "score": None,
- },
- {
- "id": "MONDO:0030056",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 5",
- "full_name": None,
- "deprecated": None,
- "description": None,
- "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
+ "description": None,
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCONI RENOTUBULAR SYNDROME 5",
- "FRTS5",
- "Fanconi Renotubular Syndrome, Acadian Variant",
- "Fanconi renotubular syndrome 5",
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001942",
"HP:0002148",
- "HP:0002206",
- "HP:0004912",
- "HP:0002857",
- "HP:0004918",
- "HP:0045051",
- "HP:0000093",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
"HP:0003076",
- "HP:0002097",
- "HP:0030078",
+ "HP:0003155",
"HP:0003355",
- "HP:0005576",
- "HP:0003774",
- "HP:0000822",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083",
],
"has_phenotype_label": [
+ "Metabolic acidosis",
"Hypophosphatemia",
- "Pulmonary fibrosis",
- "Hypophosphatemic rickets",
- "Genu valgum",
- "Hyperchloremic metabolic acidosis",
- "Decreased DLCO",
- "Proteinuria",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
"Glycosuria",
- "Emphysema",
- "Lung adenocarcinoma",
+ "Elevated circulating alkaline phosphatase concentration",
"Aminoaciduria",
- "Tubulointerstitial fibrosis",
- "Stage 5 chronic kidney disease",
- "Hypertension",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency",
],
"has_phenotype_closure": [
- "UBERON:0000055",
- "UPHENO:0004507",
- "UBERON:0034923",
- "HP:0011025",
- "UBERON:0004537",
- "HP:0001626",
- "HP:0032263",
- "UPHENO:0002422",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
"HP:0000083",
- "HP:0012622",
- "UPHENO:0002246",
- "UPHENO:0005285",
- "UPHENO:0076779",
- "UPHENO:0005141",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0002564",
- "UPHENO:0087427",
- "UPHENO:0003093",
- "HP:0032581",
- "UBERON:0006555",
- "UPHENO:0076756",
- "HP:0012575",
- "UPHENO:0002803",
- "UPHENO:0003381",
- "HP:0005576",
- "UBERON:0004819",
- "UPHENO:0003094",
- "UPHENO:0002909",
- "UBERON:0000483",
- "UPHENO:0003941",
- "CHEBI:33674",
- "CHEBI:36586",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
"CHEBI:35605",
- "CHEBI:64709",
- "UBERON:0001009",
+ "UPHENO:0068169",
+ "CHEBI:72695",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
+ "CHEBI:33575",
"UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0002664",
- "UPHENO:3000003",
- "HP:0100606",
- "HP:0030358",
- "HP:0100526",
- "MPATH:14",
- "MPATH:25",
- "CHEBI:15693",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:18133",
"CHEBI:35381",
- "HP:0030972",
"CHEBI:16646",
- "HP:0002597",
"CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "HP:0000924",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0004765",
+ "UPHENO:0002559",
+ "UPHENO:0076692",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
"CHEBI:33839",
- "UBERON:0001088",
- "UBERON:0007798",
- "HP:0000079",
- "HP:0033354",
- "UPHENO:0002642",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
+ "UPHENO:0003432",
+ "UPHENO:0081544",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
+ "HP:0032943",
+ "CHEBI:60911",
+ "HP:0003109",
+ "UPHENO:0051686",
"HP:0003110",
- "CHEBI:36963",
- "UBERON:0000489",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0051709",
"UPHENO:0068110",
- "HP:0011277",
- "HP:0020129",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0046383",
- "CHEBI:33304",
- "CHEBI:33582",
- "CHEBI:36962",
- "CHEBI:25806",
- "CHEBI:51143",
- "UPHENO:0004791",
- "CHEBI:16541",
- "UPHENO:0002442",
- "UBERON:0004122",
- "CHEBI:37622",
- "CHEBI:50047",
- "MPATH:597",
- "HP:0030878",
- "UBERON:0002049",
- "HP:0004360",
- "HP:0001995",
- "HP:0001942",
- "HP:0001941",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0031339",
- "UPHENO:0002585",
- "UBERON:0000479",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UPHENO:0003430",
- "UPHENO:0002983",
- "UBERON:0005055",
- "UBERON:0002513",
- "UBERON:0010740",
- "MPATH:0",
- "UBERON:0004709",
- "HP:0100491",
- "HP:0001992",
- "CHEBI:33256",
- "UPHENO:0031166",
- "UPHENO:0086780",
- "HP:0040064",
- "UPHENO:0002832",
- "UPHENO:0002944",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0004918",
- "UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0005172",
- "HP:0002795",
- "UPHENO:0068054",
- "HP:0006530",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0002643",
- "HP:0002088",
- "GO:0032501",
- "UPHENO:0002988",
- "UBERON:0011249",
- "CHEBI:16670",
- "UBERON:0000170",
- "HP:0002086",
- "UPHENO:0002526",
- "UBERON:0002113",
- "UPHENO:0081544",
- "HP:0034669",
- "UBERON:0001558",
- "CHEBI:33675",
- "UPHENO:0002648",
- "HP:0000091",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0075945",
- "UPHENO:0002754",
- "HP:0012252",
- "HP:0100529",
- "UPHENO:0086908",
- "GO:0008150",
- "UPHENO:0002426",
- "UBERON:0013522",
- "HP:0032943",
- "UBERON:0001015",
- "UBERON:0000065",
- "UPHENO:0002859",
- "CHEBI:32988",
- "UPHENO:0051686",
- "UPHENO:0002668",
- "UPHENO:0003015",
- "UBERON:0002103",
- "UPHENO:0068169",
- "BFO:0000002",
+ "UBERON:0000025",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
"BFO:0000001",
- "HP:0002981",
- "CHEBI:24867",
- "UBERON:0004211",
- "UBERON:0002417",
- "CHEBI:33238",
- "HP:0000077",
- "UPHENO:0005214",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003411",
- "HP:0000118",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0001002",
- "CHEBI:50860",
- "UPHENO:0002830",
+ "UBERON:0001008",
+ "UPHENO:0000543",
"UPHENO:0003413",
- "UPHENO:0002963",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
"UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
"CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0001062",
- "HP:0001871",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0075902",
- "CHEBI:23367",
- "UPHENO:0002530",
- "UPHENO:0002783",
- "UPHENO:0051739",
- "UPHENO:0002650",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
+ "UBERON:0005173",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "UPHENO:0002346",
+ "HP:0000079",
"CHEBI:24431",
- "GO:0042592",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
"UBERON:0002100",
- "UPHENO:0046284",
- "UBERON:0011676",
- "CHEBI:25367",
- "UPHENO:0003086",
- "UPHENO:0034253",
- "UBERON:0015061",
- "UPHENO:0002554",
- "UBERON:0013701",
- "UPHENO:0002636",
- "UBERON:0002193",
- "CHEBI:18133",
- "UBERON:0005178",
"UBERON:0011143",
- "UPHENO:0004418",
- "UBERON:0006314",
- "HP:0003355",
- "HP:0045051",
- "CHEBI:36359",
- "UPHENO:0003049",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002532",
- "UPHENO:0087433",
- "CHEBI:33302",
- "BFO:0000004",
- "UBERON:0005177",
- "CHEBI:26082",
- "UBERON:0004111",
- "UBERON:0004535",
- "HP:0011793",
- "UPHENO:0051709",
- "UPHENO:0076299",
- "HP:0002206",
- "GO:0008152",
- "UBERON:0000982",
- "HP:0040068",
- "UBERON:0002048",
- "UPHENO:0004505",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UBERON:0004375",
- "UPHENO:0004503",
- "UPHENO:0076294",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UBERON:0004119",
- "UPHENO:0002536",
- "HP:0000822",
- "GO:0001503",
- "UPHENO:0031228",
- "CHEBI:33579",
- "BFO:0000003",
- "HP:0000001",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
+ "UPHENO:0000541",
+ "UPHENO:0002909",
+ "CHEBI:24833",
+ "UBERON:0004111",
"UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UBERON:0013702",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "HP:0002097",
- "UPHENO:0003799",
- "UBERON:0000064",
- "CHEBI:33259",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0003657",
- "UPHENO:0076692",
- "UBERON:0004905",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "CHEBI:24870",
- "UPHENO:0002634",
- "CHEBI:33709",
- "UPHENO:0076767",
- "UBERON:0001285",
- "PATO:0000001",
- "HP:0030078",
- "MPATH:1000",
- "HP:0011842",
- "UPHENO:0051763",
- "UBERON:0011582",
- "UBERON:0000072",
- "BFO:0000020",
- "UPHENO:0002525",
+ "UPHENO:0066921",
+ "HP:0011042",
"HP:0032180",
- "UPHENO:0066739",
- "CHEBI:35352",
- "UBERON:0005181",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "UPHENO:9002003",
"UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
+ "GO:0042592",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
"UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:26079",
- "HP:0030760",
- "UPHENO:0048707",
- "UBERON:0001005",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0081581",
- "UBERON:0002471",
- "UPHENO:0003005",
- "UBERON:0000475",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
"UPHENO:0034351",
- "UPHENO:0031318",
- "UPHENO:0002678",
- "UBERON:0010363",
- "UPHENO:0002269",
- "UBERON:0001981",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "MPATH:596",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002448",
- "UPHENO:0084763",
- "CHEBI:33285",
- "UPHENO:0002870",
- "HP:0045049",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
"CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000477",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UBERON:0003914",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
"UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
+ "UPHENO:0002832",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
"UBERON:0000174",
- "CHEBI:36360",
+ "UPHENO:0002386",
+ "UPHENO:0069327",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
"UBERON:0010000",
- "UBERON:0001474",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
+ "UPHENO:0002963",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
+ "BFO:0000002",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
+ "UPHENO:0002949",
+ "UBERON:0000465",
+ "UPHENO:0001003",
"UBERON:0003103",
- "UPHENO:0076703",
- "HP:0001969",
- "UPHENO:0005201",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "UPHENO:0002885",
- "HP:0004912",
- "HP:0011849",
- "UPHENO:0003066",
- "UBERON:0002075",
- "UPHENO:0003084",
- "UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0002964",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002574",
- "UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002377",
- "HP:0001367",
- "HP:0000119",
- "UPHENO:0002785",
- "UPHENO:0086635",
- "UPHENO:0076714",
- "HP:0002813",
- "UPHENO:0002750",
- "UBERON:0004769",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
"UBERON:0000467",
- "UBERON:0003840",
- "UPHENO:0031142",
- "UPHENO:0087993",
- "UPHENO:0002679",
- "HP:0006487",
- "UPHENO:0002600",
- "UBERON:0004708",
- "HP:0000940",
- "UBERON:0001465",
- "UPHENO:0080300",
- "HP:0012210",
- "UPHENO:0002896",
- "UBERON:0005173",
- "UBERON:0015212",
- "UBERON:0004381",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UPHENO:0031122",
- "UBERON:0034921",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "UPHENO:0002406",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "CHEBI:33917",
- "UPHENO:0002593",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002531",
- "UPHENO:0004909",
- "UBERON:0000178",
- "UPHENO:0002632",
- "UBERON:0002529",
- "UBERON:0003823",
- "UPHENO:0041591",
- "UBERON:0004770",
- "UBERON:0000154",
- "UBERON:0000026",
- "UPHENO:0003516",
- "UPHENO:0003095",
- "UPHENO:0076727",
- "HP:0002815",
- "UBERON:0006058",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
- "HP:0002814",
- "HP:0003774",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0002576",
- "HP:0002857",
- "UPHENO:0041610",
- "MPATH:31",
- "UPHENO:0087462",
- "HP:0011314",
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904",
],
"has_phenotype_closure_label": [
- "Abnormality of the cardiovascular system",
- "vessel",
- "vascular system",
- "Increased blood pressure",
- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
- "Aciduria",
- "Abnormal urine pH",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
"organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
+ "muscle organ",
+ "increased level of organic acid in urine",
"oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
- "process of degenerative change",
- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
- "hexose",
- "monosaccharide",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
"urine glucose level phenotype",
- "Glycosuria",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
"Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
"polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
"protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
- "nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
- "main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "anatomical entity physiology phenotype",
- "tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
+ "Metabolic acidosis",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
"abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
- "phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
"decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
+ "nephron epithelium phenotype",
+ "decreased functionality of the nephron tubule",
"nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
- "phosphate",
+ "trunk",
+ "epithelial tube",
"molecular entity",
- "lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
"carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
+ "main body axis",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
+ "abdomen element",
+ "uriniferous tubule",
"upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
+ "Acidosis",
"nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
+ "Abnormal blood phosphate concentration",
+ "renal system",
+ "phosphate",
+ "excretory system",
"multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
+ "anatomical entity dysfunction in independent continuant",
"material anatomical entity physiology phenotype",
- "hematopoietic system",
- "haemolymphatic fluid",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "lateral structure",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
+ "Abnormality of the musculoskeletal system",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
+ "skeletal element",
"increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
+ "anatomical system physiology phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
"skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
"anatomical system",
- "zone of organ",
- "quality",
- "leg",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
"chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
"anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "monoatomic entity",
+ "body proper",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "Abnormality of the kidney",
"phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
+ "bodily fluid",
+ "phosphoric acid derivative",
+ "racemate",
+ "blood phosphate level phenotype",
+ "blood monoatomic ion level phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "haemolymphatic fluid",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
"hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
- "Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
- "body proper",
- "excretory system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
"biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
+ "Elevated circulating alkaline phosphatase concentration",
"compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
- "biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
"blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
"material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
"phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity",
],
- "has_phenotype_count": 14,
+ "has_phenotype_count": 16,
+ "highlight": None,
+ "score": None,
+ },
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "full_name": None,
+ "deprecated": None,
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "xref": ["OMIMPS:134600"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": None,
+ "in_taxon_label": None,
+ "symbol": None,
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "uri": None,
+ "iri": None,
+ "namespace": "MONDO",
+ "has_phenotype": None,
+ "has_phenotype_label": None,
+ "has_phenotype_closure": None,
+ "has_phenotype_closure_label": None,
+ "has_phenotype_count": 0,
"highlight": None,
"score": None,
},
@@ -9643,8 +9336,8 @@ def search():
"name": "Renal Fanconi syndrome",
"full_name": None,
"deprecated": None,
- "description": None,
- "xref": None,
+ "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.",
+ "xref": ["SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
@@ -9662,7350 +9355,8315 @@ def search():
"score": None,
},
{
- "id": "MONDO:0012186",
+ "id": "MONDO:0011584",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
+ "name": "Fanconi anemia complementation group D1",
"full_name": None,
"deprecated": None,
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
"xref": [
- "DOID:0111091",
- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861",
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457",
],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I",
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001655",
- "HP:0001875",
- "HP:0000325",
- "HP:0000545",
- "HP:0002984",
- "HP:0002247",
- "HP:0003974",
- "HP:0001873",
"HP:0009778",
- "HP:0001631",
- "HP:0000543",
- "HP:0001511",
- "HP:0000405",
- "HP:0009777",
- "HP:0000568",
- "HP:0000821",
- "HP:0002308",
- "HP:0002949",
- "HP:0000609",
- "HP:0034323",
- "HP:0000470",
- "HP:0001263",
- "HP:0003221",
- "HP:0030048",
- "HP:0000076",
- "HP:0000252",
- "HP:0000413",
- "HP:0001643",
"HP:0005528",
- "HP:0030680",
+ "HP:0001511",
+ "HP:0004808",
"HP:0000957",
- "HP:0001903",
- "HP:0001629",
- "HP:0010034",
- "HP:0012210",
- "HP:0012506",
- "HP:0000085",
- "HP:0001274",
+ "HP:0003221",
+ "HP:0001508",
"HP:0004322",
- "HP:0000089",
- "HP:0000365",
- "HP:0000483",
- "HP:0004325",
- "HP:0001331",
- "HP:0005528",
+ "HP:0006727",
+ "HP:0002023",
+ "HP:0000252",
],
"has_phenotype_label": [
- "Patent foramen ovale",
- "Neutropenia",
- "Triangular face",
- "Myopia",
- "Hypoplasia of the radius",
- "Duodenal atresia",
- "Absent radius",
- "Thrombocytopenia",
"Short thumb",
- "Atrial septal defect",
- "Optic disc pallor",
- "Intrauterine growth retardation",
- "Conductive hearing impairment",
- "Absent thumb",
- "Microphthalmia",
- "Hypothyroidism",
- "Chiari malformation",
- "Fused cervical vertebrae",
- "Optic nerve hypoplasia",
- "Reduced circulating growth hormone concentration",
- "Short neck",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Colpocephaly",
- "Vesicoureteral reflux",
- "Microcephaly",
- "Atresia of the external auditory canal",
- "Patent ductus arteriosus",
"Bone marrow hypocellularity",
- "Abnormal cardiovascular system morphology",
+ "Intrauterine growth retardation",
+ "Acute myeloid leukemia",
"Cafe-au-lait spot",
- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
- "Abnormal renal morphology",
- "Small pituitary gland",
- "Horseshoe kidney",
- "Agenesis of corpus callosum",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
"Short stature",
- "Renal hypoplasia",
- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity",
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia",
+ "Microcephaly",
],
"has_phenotype_closure": [
- "UPHENO:0002563",
- "UPHENO:0002872",
- "UPHENO:0002921",
- "UPHENO:0008831",
- "UPHENO:0026187",
- "UPHENO:0025610",
- "UPHENO:0011938",
- "UPHENO:0026263",
- "UPHENO:0002565",
- "UPHENO:0009312",
- "UPHENO:0011517",
- "UPHENO:0026588",
- "UBERON:0000119",
- "UBERON:0003528",
- "UPHENO:0025954",
- "UPHENO:0026796",
- "UBERON:0000957",
- "UBERON:0002020",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0087907",
+ "HP:0000152",
+ "UPHENO:0076702",
+ "UPHENO:0004523",
+ "HP:0000234",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "UPHENO:0003001",
+ "UBERON:0013701",
+ "UBERON:0011676",
+ "UBERON:0000481",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UBERON:0011137",
+ "UBERON:0013702",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0003025",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "HP:0009121",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "HP:0000240",
+ "UPHENO:0086589",
+ "HP:0002060",
+ "UBERON:0000033",
+ "UBERON:0005944",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "NCBITaxon:131567",
+ "UPHENO:0080200",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "UPHENO:3000000",
+ "NCBITaxon:33154",
+ "UPHENO:0063596",
+ "HP:0025033",
+ "UPHENO:0074229",
+ "HP:0034915",
+ "UPHENO:0063558",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "GO:0005623",
+ "UPHENO:0074230",
+ "UPHENO:0076803",
+ "HP:0004378",
+ "UBERON:0001007",
+ "UPHENO:0002554",
+ "UPHENO:0074227",
+ "UPHENO:0074245",
+ "UPHENO:0002839",
+ "HP:0006721",
+ "HP:0011355",
+ "UPHENO:0069254",
+ "UPHENO:0080351",
+ "UPHENO:0081424",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0005431",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
"UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UBERON:0010313",
- "UPHENO:0031228",
- "UPHENO:0031123",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0041098",
- "UPHENO:0004764",
- "UPHENO:0031144",
- "HP:0000481",
- "UPHENO:0031206",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UBERON:0001801",
- "UBERON:0000964",
- "UPHENO:0087597",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0087232",
- "UPHENO:0031129",
- "UPHENO:0041037",
- "UPHENO:0041053",
- "HP:0000089",
- "HP:0008678",
- "UPHENO:0080352",
- "UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "UBERON:0001869",
- "UPHENO:0002784",
- "UPHENO:0025935",
- "UPHENO:0011556",
- "UPHENO:0008598",
- "HP:0004323",
- "UBERON:0005970",
- "UPHENO:0087032",
- "UPHENO:0002997",
- "UPHENO:0002834",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "UPHENO:0010763",
"UPHENO:0082794",
- "HP:0033725",
- "UPHENO:0011567",
- "UBERON:0000446",
- "UBERON:0000454",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0009056",
- "UPHENO:0025363",
- "UPHENO:0008925",
- "UPHENO:0087531",
- "UPHENO:0011557",
- "HP:0001273",
- "UPHENO:0011580",
- "UPHENO:0025368",
- "UBERON:0002437",
- "UBERON:0002473",
- "UBERON:0005340",
- "UPHENO:0008838",
- "UPHENO:0081562",
- "UPHENO:0011545",
- "UPHENO:0085804",
- "UPHENO:0026211",
- "UBERON:0007702",
- "UBERON:0001020",
- "UPHENO:0011549",
- "HP:0007370",
- "UPHENO:0002873",
- "UPHENO:0085805",
- "UPHENO:0011515",
- "UPHENO:0002811",
- "HP:0012429",
- "UPHENO:0076807",
- "UBERON:0011299",
- "UPHENO:0081424",
- "UBERON:0019294",
- "UBERON:0002316",
- "UBERON:0001018",
- "UPHENO:0026388",
- "UPHENO:0025599",
- "UPHENO:0008483",
- "UPHENO:0009064",
- "UPHENO:0011553",
- "UPHENO:0041226",
- "UPHENO:0041465",
- "UBERON:0011300",
- "HP:0100542",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "UBERON:0000007",
- "UBERON:0001894",
- "UPHENO:0069251",
- "UPHENO:0003055",
- "UPHENO:0069370",
- "UPHENO:0002523",
- "UPHENO:0086735",
- "UPHENO:0068967",
- "HP:0012504",
- "UPHENO:0068824",
- "UPHENO:0002685",
- "UBERON:0003296",
- "HP:0000078",
- "UBERON:0004092",
- "UPHENO:0069067",
- "UPHENO:0087547",
- "UPHENO:0088065",
- "UPHENO:0087516",
- "UBERON:0003937",
- "HP:0012503",
- "UPHENO:0003016",
- "HP:0000864",
- "UPHENO:0069190",
- "UPHENO:0075995",
- "UPHENO:0087427",
- "UPHENO:0002803",
- "UPHENO:0075203",
- "UBERON:0000916",
- "UPHENO:0003094",
- "UPHENO:0002638",
- "UPHENO:0002601",
- "UBERON:0002374",
- "UBERON:0003821",
- "UBERON:0005897",
- "UPHENO:0002898",
- "UPHENO:0002950",
- "HP:0005916",
- "UPHENO:0069476",
- "HP:0009658",
- "UPHENO:0002756",
- "HP:0004328",
- "UPHENO:0002845",
- "UPHENO:0046408",
- "UPHENO:0046467",
- "UPHENO:0084447",
- "UPHENO:0069518",
- "UPHENO:0002612",
- "UPHENO:0069555",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:0011250",
- "UPHENO:0046541",
- "HP:0005914",
- "UPHENO:0046762",
- "UPHENO:0002881",
- "UPHENO:0046450",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "UPHENO:0002938",
- "UPHENO:0080083",
- "UBERON:0004249",
- "UPHENO:0002899",
- "UPHENO:0084458",
- "UPHENO:0076779",
- "UPHENO:0046657",
- "UPHENO:0046685",
- "UBERON:0010546",
- "UBERON:5102544",
- "UBERON:0010543",
- "UBERON:0012150",
- "UPHENO:0046417",
- "UPHENO:0002752",
- "UPHENO:0002917",
- "UBERON:0012430",
- "UPHENO:0046656",
- "UPHENO:0046661",
- "UBERON:0003620",
- "UBERON:0013581",
- "UBERON:0012358",
- "UBERON:0009877",
- "UPHENO:0046522",
- "UPHENO:0080160",
- "UPHENO:0080168",
- "UBERON:0019264",
- "HP:0001713",
- "UPHENO:0002613",
- "UPHENO:0086854",
- "UPHENO:0033604",
- "HP:0001629",
- "UPHENO:0086866",
- "UPHENO:0003828",
- "UBERON:0002094",
- "UPHENO:0087415",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "CL:0000764",
- "CL:0000232",
- "CL:0000329",
- "UPHENO:0088162",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0074584",
- "HP:0000953",
+ "UPHENO:0082761",
+ "UPHENO:0053208",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
+ "UPHENO:0004704",
+ "UPHENO:0050126",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UBERON:0004381",
+ "GO:0042592",
+ "UPHENO:0063565",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "GO:0010556",
+ "CL:0002092",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0050040",
+ "UPHENO:0054315",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:5001463",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
"UPHENO:0076739",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "UPHENO:0080662",
+ "UPHENO:0063594",
+ "UPHENO:0010808",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "UPHENO:0002635",
+ "UPHENO:0003811",
+ "HP:0002977",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
"HP:0012733",
+ "UBERON:0010707",
"HP:0001574",
- "GO:0043473",
- "HP:0000951",
+ "UPHENO:0002648",
+ "HP:0004325",
"UBERON:0002416",
- "UPHENO:0054970",
- "UPHENO:0003019",
- "UPHENO:0004405",
- "UPHENO:0033581",
- "UPHENO:0004457",
- "UPHENO:0033593",
- "UBERON:0000055",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0003012",
- "HP:0001643",
- "UBERON:0003133",
- "UPHENO:0087186",
- "UPHENO:0076729",
- "UPHENO:0015331",
- "UPHENO:0002678",
- "UPHENO:0002804",
- "UPHENO:0087309",
- "UPHENO:0087018",
- "UBERON:0018674",
- "UBERON:0001637",
- "UPHENO:0033602",
- "UPHENO:0033599",
- "UPHENO:0005134",
- "UBERON:0004537",
- "UBERON:0002201",
- "UBERON:0003498",
- "UBERON:0004572",
- "UBERON:0011695",
- "UBERON:0004716",
- "UPHENO:0033598",
- "HP:0009660",
- "UPHENO:0080164",
- "UPHENO:0002916",
- "UPHENO:0033579",
- "UBERON:0007798",
- "UPHENO:0033580",
- "UPHENO:0003031",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "UBERON:0001691",
- "UPHENO:0063596",
- "UPHENO:0033609",
- "UPHENO:0074348",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0063645",
- "UBERON:0001352",
- "UPHENO:0008678",
- "UPHENO:0025547",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "HP:0009825",
- "UPHENO:0008604",
- "UPHENO:0026640",
- "UPHENO:0025136",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "UPHENO:0009399",
- "UPHENO:0026023",
- "UPHENO:0081451",
- "UPHENO:0076765",
- "UBERON:0034925",
- "HP:0005918",
- "UPHENO:0025955",
- "GO:0050789",
- "UBERON:0013702",
- "UPHENO:0008865",
- "UBERON:0002104",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "HP:0040064",
+ "UBERON:0002097",
+ "HP:0000953",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "CL:0008001",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "CL:0000219",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "CL:0002191",
+ "HP:0001881",
+ "GO:0007275",
+ "CL:0002242",
+ "HP:0001909",
+ "UBERON:0004111",
+ "HP:0032251",
+ "HP:0010987",
+ "HP:0004377",
+ "UPHENO:0050068",
+ "HP:0002023",
+ "UPHENO:0050034",
+ "UPHENO:0052178",
+ "HP:0025031",
+ "UPHENO:0052694",
+ "HP:0000957",
+ "BFO:0000015",
+ "UPHENO:0086644",
+ "UPHENO:0053456",
+ "UPHENO:0049587",
+ "UPHENO:0050008",
+ "UPHENO:0005433",
+ "UPHENO:0079876",
+ "GO:0048856",
+ "HP:0002664",
"UPHENO:0046505",
- "UPHENO:0011533",
- "UPHENO:0026074",
- "UPHENO:0008686",
- "GO:0060255",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0009366",
- "UPHENO:0025509",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UPHENO:0011492",
- "HP:0002011",
- "UPHENO:0025808",
- "HP:0001671",
- "UPHENO:0005029",
- "UPHENO:0025883",
- "CL:0000775",
+ "GO:0032502",
"UPHENO:0076805",
- "UPHENO:0026808",
- "UPHENO:0026239",
- "UPHENO:0082761",
- "UPHENO:0069272",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0084820",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UBERON:0000160",
- "UPHENO:0002764",
- "UPHENO:0076755",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UPHENO:0087334",
- "UPHENO:0026506",
- "HP:0003117",
- "UBERON:0002114",
- "UBERON:0015042",
- "UPHENO:0002988",
- "UBERON:0004111",
- "UPHENO:0075219",
- "UBERON:0001130",
+ "GO:0032501",
+ "UBERON:0002405",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "GO:0043473",
+ "UPHENO:0050106",
"UPHENO:0076703",
- "UPHENO:0078089",
- "UPHENO:0081594",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0002285",
- "UPHENO:0002994",
- "UBERON:0012357",
- "UPHENO:0002652",
- "UBERON:0004921",
+ "UPHENO:0002812",
+ "UPHENO:0002844",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "UPHENO:0002833",
+ "UPHENO:0001003",
"UPHENO:0053330",
- "UBERON:0000020",
- "GO:0030252",
- "UBERON:0001007",
- "UPHENO:0002303",
- "UPHENO:0031142",
- "UPHENO:0025587",
- "HP:0002247",
- "HP:0030962",
- "UPHENO:0002689",
- "UPHENO:0088020",
- "UPHENO:0002377",
- "UBERON:0005409",
- "UBERON:0003103",
- "UPHENO:0003952",
- "UPHENO:0074228",
- "UPHENO:0063558",
+ "UPHENO:0063577",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "HP:0001507",
+ "UPHENO:0004459",
+ "UBERON:0002371",
+ "BFO:0000003",
+ "HP:0012145",
+ "HP:0001871",
+ "UPHENO:0087123",
+ "UPHENO:0088166",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0005528",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0002525",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UBERON:0000073",
+ "HP:0001508",
+ "UPHENO:0069684",
+ "UPHENO:0046483",
+ "HP:0011844",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "GO:0008152",
+ "HP:0001939",
+ "UBERON:0012141",
+ "UPHENO:0002963",
+ "UBERON:0001440",
+ "UPHENO:0002764",
+ "HP:0007400",
+ "CL:0000839",
+ "CL:0001035",
+ "UBERON:0004375",
+ "HP:0033127",
+ "UBERON:0002101",
+ "BFO:0000040",
+ "UBERON:0008785",
"UPHENO:0001002",
- "UPHENO:0002239",
- "HP:0002973",
- "UPHENO:0063569",
- "HP:0002246",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0069125",
- "UPHENO:0074229",
- "HP:0030048",
- "GO:0050877",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0063586",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0063562",
+ "UPHENO:0088186",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UPHENO:0054304",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0002782",
+ "UPHENO:0002530",
+ "UBERON:0011138",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "UBERON:0010538",
+ "UPHENO:0081423",
+ "UPHENO:0003095",
+ "UPHENO:0002708",
+ "UPHENO:0002536",
+ "HP:0009381",
+ "UPHENO:0074237",
+ "HP:0040068",
+ "GO:0010629",
+ "UBERON:0002398",
+ "HP:0000951",
+ "HP:0002813",
+ "UBERON:0004765",
+ "UPHENO:0003082",
+ "HP:0002488",
+ "UBERON:0002193",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
"UBERON:0001460",
+ "UPHENO:0004476",
+ "UBERON:0002389",
+ "UBERON:0004710",
+ "UPHENO:0084448",
+ "HP:0005561",
+ "UPHENO:0080352",
+ "HP:0005922",
+ "UBERON:0000383",
+ "UBERON:0000026",
+ "UPHENO:0076724",
+ "UPHENO:0078606",
+ "BFO:0000004",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0004064",
+ "UPHENO:0004909",
+ "UPHENO:0080393",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0000468",
+ "UPHENO:0063599",
+ "HP:0000118",
+ "UPHENO:0075195",
+ "UBERON:0002529",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0002948",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UPHENO:0087518",
"UBERON:0019221",
- "UBERON:0010740",
+ "UBERON:0004288",
+ "UPHENO:0069266",
"UPHENO:0003227",
- "UPHENO:0002945",
+ "UBERON:0015203",
+ "UBERON:0012139",
+ "UPHENO:0002668",
+ "UBERON:0002470",
"UBERON:0000025",
- "HP:0001098",
- "HP:0025461",
- "UPHENO:0046483",
- "HP:0006496",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "UPHENO:0076720",
- "HP:0032251",
- "UPHENO:0081204",
+ "HP:0001000",
+ "UBERON:0019231",
+ "UPHENO:0076723",
+ "UPHENO:0049743",
"UPHENO:0084763",
- "UPHENO:0046490",
- "UPHENO:0081313",
- "UPHENO:0046554",
- "HP:0000483",
- "UBERON:0019261",
- "UBERON:0002049",
- "UBERON:0005181",
- "UPHENO:0002544",
- "HP:0000085",
- "UPHENO:0004909",
- "UPHENO:0002880",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0002538",
- "HP:0006501",
- "CL:0000766",
- "UPHENO:0050034",
- "UPHENO:0046403",
- "HP:0012759",
- "UPHENO:0075933",
- "UPHENO:0068912",
+ "UBERON:0012475",
+ "UBERON:0000475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
"UBERON:0015061",
- "GO:0010817",
- "HP:0009826",
- "HP:0025015",
- "UPHENO:0066905",
- "UPHENO:0003936",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0069328",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UPHENO:0026486",
- "UPHENO:0009209",
- "UBERON:0006058",
- "UPHENO:0074237",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0076718",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UPHENO:0012274",
- "UPHENO:0087750",
- "UPHENO:0003095",
- "UPHENO:0003514",
- "UPHENO:0026146",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0068838",
- "HP:0012145",
- "UPHENO:0046540",
- "UPHENO:0002467",
- "HP:0002817",
- "UPHENO:0003030",
- "UBERON:0004732",
- "UPHENO:0002562",
- "UPHENO:0046472",
- "UBERON:0008962",
- "UBERON:0004453",
- "UBERON:0015001",
- "HP:0100240",
- "UPHENO:0025135",
- "UPHENO:0068848",
- "UBERON:0006717",
- "UPHENO:0002593",
- "UPHENO:0002550",
- "HP:0011991",
- "UPHENO:0068898",
- "UPHENO:0002746",
- "UPHENO:0002954",
- "UBERON:0010712",
- "UBERON:0011249",
- "UPHENO:0011546",
- "UPHENO:0008707",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0002246",
- "UBERON:0010703",
- "HP:0010993",
- "UBERON:0002428",
- "UPHENO:0026095",
- "UPHENO:0002648",
- "UPHENO:0002719",
- "HP:0030680",
- "UPHENO:0087349",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0002949",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "HP:0000924",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "HP:0011927",
+ "HP:0000002",
+ "UPHENO:0068971",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "UBERON:0006058",
+ "UPHENO:0080079",
"UPHENO:0002870",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0005927",
- "UPHENO:0074310",
- "UBERON:0001981",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UBERON:0006048",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0049757",
+ "UPHENO:0080662",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001442",
"CL:0000000",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0010538",
- "HP:0005773",
- "UBERON:0003221",
- "UPHENO:0002594",
- "HP:0009815",
- "UBERON:0002495",
- "HP:0005528",
- "UPHENO:0003065",
- "UPHENO:0002650",
- "UPHENO:0049894",
- "HP:0001167",
- "UBERON:0000026",
- "UPHENO:0002800",
- "UBERON:0003645",
- "HP:0005561",
- "UPHENO:0025166",
- "UBERON:0004120",
- "UBERON:0011584",
- "UPHENO:0052178",
- "HP:0003422",
- "HP:0040070",
- "UPHENO:0012312",
- "UBERON:0002405",
- "HP:0011017",
- "GO:0006810",
- "UPHENO:0046396",
- "UBERON:0004714",
- "HP:0000818",
- "HP:0006503",
- "UBERON:0003544",
- "UBERON:0013768",
- "UPHENO:0002969",
- "HP:0002715",
- "GO:0023052",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UPHENO:0009295",
+ "UBERON:0010708",
+ "HP:0040012",
+ "UPHENO:0001001",
+ "UBERON:0012354",
+ "UBERON:0001434",
+ "UPHENO:0003812",
"UPHENO:0046741",
- "UPHENO:0087518",
- "UPHENO:0002211",
- "UBERON:0000060",
- "UPHENO:0002717",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046594",
- "UBERON:0002390",
- "BFO:0000040",
- "UBERON:0000941",
- "UPHENO:0011544",
- "CL:0000255",
- "HP:0001172",
- "UPHENO:0011572",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0002964",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0001245",
+ "UPHENO:0054374",
+ "HP:0000252",
+ "UBERON:0002204",
+ "UBERON:0000465",
+ "GO:0048519",
+ "HP:0011121",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0003049",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0069236",
+ "UBERON:0007272",
+ "HP:0045060",
+ "UPHENO:0005092",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0009601",
+ "UPHENO:0076692",
+ "BFO:0000002",
+ "UPHENO:0012440",
+ "UPHENO:0054957",
+ "UPHENO:0003432",
+ "UBERON:0011216",
"CL:0000738",
- "UBERON:0011138",
- "HP:0100887",
- "UBERON:0002193",
- "HP:0001871",
- "HP:0006265",
- "UPHENO:0049813",
- "UPHENO:0074245",
- "UPHENO:0063794",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0076799",
- "UBERON:0002099",
- "HP:0001872",
- "HP:0010026",
- "UPHENO:0063722",
- "UBERON:0015203",
- "UBERON:0000475",
- "UPHENO:0008743",
- "HP:0010034",
- "UPHENO:0046528",
- "UPHENO:0085356",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0002792",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0085371",
- "UPHENO:0049642",
- "UPHENO:0087369",
- "CL:0000988",
- "GO:0051179",
- "HP:0000470",
- "HP:0000118",
- "UBERON:0004710",
- "HP:0001881",
- "HP:0040195",
- "UPHENO:0046618",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0069327",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0002603",
- "HP:0011994",
- "UBERON:0005177",
- "UPHENO:0010763",
- "HP:0000325",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "HP:0000413",
- "UPHENO:0025961",
- "UPHENO:0026098",
+ "UPHENO:0002880",
+ "UBERON:0000467",
+ "UPHENO:0003004",
+ "GO:0009892",
"UPHENO:0002733",
- "UPHENO:0002944",
- "CL:0002242",
- "UPHENO:0002910",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UPHENO:0075159",
+ "UPHENO:0069674",
+ "UPHENO:0010850",
"UPHENO:0002559",
+ "HP:0040195",
+ "HP:0009815",
+ "UPHENO:0002731",
+ "UPHENO:0002859",
+ "UPHENO:0012308",
+ "GO:0031052",
+ "UPHENO:0002526",
+ "UPHENO:0010799",
+ "UPHENO:0050108",
+ "UBERON:0034923",
"UPHENO:0005214",
- "UPHENO:0003799",
- "UPHENO:0003815",
- "UPHENO:0002568",
- "HP:0002948",
- "UPHENO:0080204",
- "HP:0008057",
- "UPHENO:0086797",
- "UBERON:0011216",
- "HP:0011452",
- "UBERON:0018707",
- "UPHENO:9002003",
- "UPHENO:0002643",
- "GO:0008152",
- "UBERON:0004088",
- "UPHENO:0071310",
- "HP:0011282",
- "UPHENO:0071317",
- "UPHENO:0076810",
- "UPHENO:0063565",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0046684",
- "UBERON:0001015",
- "UBERON:0019207",
"UPHENO:0002736",
- "UBERON:0009569",
- "CL:0001035",
- "UPHENO:0002600",
- "UPHENO:0009337",
- "HP:0001507",
- "UPHENO:0002430",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0025921",
- "UPHENO:0069477",
- "UPHENO:0075220",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UPHENO:0069335",
- "HP:0012130",
- "HP:0000924",
- "UBERON:0000062",
- "HP:0033127",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0004535",
- "UPHENO:0011520",
- "UBERON:0011137",
- "UPHENO:0081554",
- "UPHENO:0008622",
- "UPHENO:0004831",
- "HP:0001331",
- "UPHENO:0063615",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "HP:0010009",
- "UBERON:0004121",
- "UPHENO:0082875",
- "UPHENO:0076776",
- "UPHENO:0046538",
- "UBERON:0000468",
- "UPHENO:0002313",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0033590",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0004507",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UBERON:0004573",
- "HP:0000929",
- "UPHENO:0078122",
- "HP:0002589",
- "HP:0011283",
- "UPHENO:0071344",
- "UPHENO:0003069",
- "UPHENO:0002983",
- "UPHENO:0075655",
- "UPHENO:0050065",
- "UPHENO:0003827",
- "GO:0010556",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UPHENO:0076723",
- "UPHENO:0009195",
- "UBERON:0002413",
- "UPHENO:0009136",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0015277",
- "CL:0000457",
- "UPHENO:0086176",
- "PATO:0000001",
- "UPHENO:0003086",
- "UPHENO:0081511",
- "UPHENO:0069480",
- "HP:0011842",
- "UPHENO:0003017",
- "UPHENO:0025852",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0087596",
- "UPHENO:0002641",
- "UPHENO:0079876",
- "UPHENO:0063629",
- "UBERON:0000915",
- "UPHENO:0066907",
- "UPHENO:0002531",
- "UPHENO:0002816",
- "UPHENO:0004459",
- "GO:0050954",
- "UPHENO:0046448",
- "UPHENO:0033559",
- "UBERON:0000467",
- "UPHENO:0008487",
- "UPHENO:0080187",
+ "UBERON:0010712",
+ "CL:0000763",
+ "UPHENO:0086633",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0002548",
+ "HP:0006727",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UBERON:0001015",
+ "UPHENO:0069062",
"NCBITaxon:33208",
- "UPHENO:0049703",
- "UPHENO:0027017",
- "HP:0009115",
- "UBERON:0002204",
- "UPHENO:0069194",
- "UPHENO:0002927",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0086857",
- "UPHENO:0063639",
- "UBERON:0008001",
- "UPHENO:0046539",
- "UBERON:0002100",
- "UBERON:0015410",
- "HP:0002977",
- "HP:0001627",
- "CL:0000219",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0087376",
- "UBERON:0002355",
- "UBERON:0001440",
- "UPHENO:0015308",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "UPHENO:0078139",
- "HP:0001263",
- "HP:0005120",
- "UPHENO:0046693",
- "UPHENO:0002833",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0011498",
- "UPHENO:0069277",
- "HP:0001875",
- "UPHENO:0076782",
- "UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0076744",
- "HP:0000001",
- "UPHENO:0086016",
- "UBERON:0003947",
- "HP:0010662",
- "BFO:0000002",
- "HP:0002242",
- "HP:0002813",
- "UBERON:0000047",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0012477",
- "UBERON:0000064",
- "UBERON:0003037",
- "UPHENO:0004618",
- "UBERON:0006876",
- "UBERON:0001463",
- "UPHENO:0084819",
- "UPHENO:0069046",
- "UPHENO:0025855",
- "UBERON:0015228",
- "UBERON:0010314",
- "UPHENO:0068839",
- "UPHENO:0077373",
- "UBERON:5102389",
- "GO:0010558",
- "UPHENO:0080126",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UPHENO:0033560",
- "HP:0001911",
- "HP:0000077",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0086855",
- "UPHENO:0002554",
- "UPHENO:0049699",
- "HP:0000478",
- "UBERON:0005179",
- "UPHENO:0002750",
- "GO:0046879",
- "HP:0011100",
- "UPHENO:3000007",
- "UPHENO:0005433",
- "UPHENO:0002934",
- "HP:0001626",
- "UPHENO:0031254",
+ "UBERON:0002428",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UBERON:0000075",
+ "UPHENO:0002593",
+ "UPHENO:0003069",
+ "UBERON:0001474",
+ "UBERON:0002199",
+ "UPHENO:0046528",
+ "UPHENO:0002944",
+ "UPHENO:0063581",
+ "UPHENO:0002586",
+ "UPHENO:0000543",
+ "CL:0000255",
+ "UPHENO:0002896",
"UBERON:0005881",
- "UPHENO:0002963",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UPHENO:0068879",
- "UBERON:0010741",
- "UPHENO:0002525",
- "HP:0011024",
- "UPHENO:0003410",
- "UPHENO:0063575",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "UBERON:0001444",
- "GO:0050794",
- "UBERON:0002081",
- "HP:0040064",
- "UPHENO:0003004",
- "UPHENO:0088166",
- "UPHENO:0012308",
- "HP:0003953",
- "UPHENO:0069064",
- "UBERON:0000463",
- "UBERON:0004151",
- "UPHENO:0066927",
- "UPHENO:0077418",
- "UPHENO:0078188",
- "HP:0003026",
- "HP:0009822",
- "HP:0012506",
- "GO:0031049",
- "HP:0011297",
- "UBERON:0002513",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "HP:0009823",
- "UPHENO:0011531",
- "HP:0010987",
- "HP:0001939",
- "HP:0032309",
- "UPHENO:0004884",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0081440",
- "UPHENO:0025553",
- "HP:0010049",
- "UPHENO:0002806",
- "UBERON:0010363",
- "UPHENO:0002385",
- "HP:0000568",
- "CL:0002092",
- "UBERON:0000019",
- "UBERON:0005156",
- "HP:0009767",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0005058",
- "UBERON:0002471",
- "HP:0000240",
- "UPHENO:0003432",
- "UBERON:0003466",
- "UPHENO:0003084",
- "UBERON:0003458",
- "UBERON:0002075",
- "UPHENO:0085354",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UPHENO:0026390",
- "UPHENO:0077348",
- "BFO:0000001",
- "UBERON:0000383",
- "GO:0040007",
- "UPHENO:0086172",
- "UPHENO:0003460",
- "HP:0000545",
- "UBERON:0003606",
- "UPHENO:0046465",
- "UPHENO:0074575",
- "HP:0000543",
- "UPHENO:0002267",
- "UPHENO:0081210",
- "UBERON:0005985",
- "UPHENO:0080325",
- "UPHENO:0002261",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0004386",
- "UPHENO:0002948",
- "UBERON:0007100",
- "UPHENO:0002656",
- "UPHENO:0004521",
- "UPHENO:0009341",
- "UPHENO:0076675",
- "UPHENO:0002386",
+ "UPHENO:0049966",
"UPHENO:0005597",
- "HP:0009824",
- "GO:0009790",
- "UPHENO:0004956",
- "HP:0012373",
- "UPHENO:0002976",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0025508",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "HP:0000014",
- "UPHENO:0008583",
- "UPHENO:0025544",
- "HP:0010974",
- "UPHENO:0077399",
- "HP:0030047",
- "UBERON:0003513",
- "UPHENO:0026183",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0002476",
- "UBERON:0000033",
- "UBERON:0000970",
- "UPHENO:0002536",
- "UPHENO:0003697",
- "UBERON:0000153",
- "UPHENO:0009115",
- "UBERON:0000061",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "UPHENO:0086932",
- "UPHENO:0002844",
- "UPHENO:0025811",
- "UPHENO:0004494",
- "UPHENO:0002987",
- "UPHENO:0046460",
- "HP:0000234",
- "UBERON:0000966",
- "UBERON:0001016",
- "UBERON:0015212",
- "UPHENO:0002841",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0026344",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0009391",
- "HP:0000539",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0009821",
- "UPHENO:0002659",
- "CL:0000094",
- "UPHENO:0002621",
- "UPHENO:0003025",
- "UPHENO:0002352",
- "UPHENO:0002896",
- "UPHENO:0069292",
- "UPHENO:0002301",
- "UPHENO:0046479",
- "HP:0000925",
- "HP:0011844",
- "UPHENO:0015281",
- "HP:0025354",
- "UBERON:0001032",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0068971",
- "UPHENO:0005647",
- "UPHENO:0002731",
- "UBERON:0012151",
- "HP:0011893",
- "UPHENO:0086633",
- "UPHENO:0087510",
- "UBERON:0007272",
- "UPHENO:0080099",
- "UPHENO:0074335",
- "GO:0023061",
- "UPHENO:0004788",
- "HP:0000315",
- "HP:0010438",
- "UBERON:0004923",
- "UPHENO:0005120",
- "UBERON:0002199",
- "UBERON:0008785",
- "UBERON:0005440",
- "UPHENO:0069047",
- "GO:0031323",
- "UBERON:0003509",
- "UPHENO:0009344",
- "UPHENO:0008640",
- "UPHENO:0025497",
- "HP:0011873",
- "UPHENO:0003020",
- "UPHENO:0085302",
- "UPHENO:0080588",
- "UBERON:0000056",
- "HP:0009778",
- "UPHENO:0003811",
- "GO:0032940",
- "UBERON:0001756",
- "CL:0000233",
- "UBERON:0004375",
- "HP:0000069",
- "CL:0000458",
- "UPHENO:0046438",
- "UPHENO:0063562",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0004149",
- "HP:0001873",
- "UPHENO:0002782",
- "HP:0002949",
- "UPHENO:0086700",
- "UBERON:0019231",
- "UBERON:0010708",
- "CHEBI:24431",
- "UPHENO:0076724",
- "UPHENO:0069684",
- "HP:0000365",
- "UBERON:0000477",
- "UPHENO:0082878",
- "UPHENO:0046740",
- "UPHENO:0008475",
- "UPHENO:0002905",
- "UPHENO:0004476",
- "UBERON:5002389",
- "UPHENO:0069236",
- "UBERON:0002091",
- "UBERON:0005388",
- "UPHENO:0053456",
- "HP:0000464",
- "UBERON:0012140",
- "UPHENO:0069538",
- "UPHENO:0087089",
- "UBERON:0001442",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "GO:0042886",
- "UPHENO:0087006",
- "HP:0040072",
- "UPHENO:0069605",
- "HP:0000372",
- "UPHENO:0003082",
- "UPHENO:0002640",
- "UPHENO:0002964",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "HP:0011927",
- "UPHENO:0046750",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "UPHENO:0046411",
- "GO:0048519",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UPHENO:0002388",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0002739",
- "HP:0009381",
- "UPHENO:0069062",
- "UPHENO:0002708",
- "UBERON:0001893",
- "UPHENO:0069674",
- "UPHENO:0004064",
- "UBERON:5001463",
- "UPHENO:0049733",
- "UBERON:0001017",
- "UBERON:0011215",
- "HP:0034323",
- "UPHENO:0046707",
- "UPHENO:0087943",
- "UPHENO:0063563",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0004766",
- "UBERON:0004770",
- "UBERON:0002082",
- "UBERON:0000974",
- "HP:0012639",
- "NCBITaxon:1",
- "UPHENO:0076791",
- "UBERON:0005162",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "GO:0030072",
- "UPHENO:0026226",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "HP:0004329",
- "UPHENO:0003114",
- "UPHENO:0049743",
- "HP:0011875",
- "UPHENO:0033607",
- "HP:0000707",
- "UBERON:0034713",
- "UBERON:0001783",
- "UBERON:0001802",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UBERON:0003951",
- "UBERON:0000122",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "NCBITaxon:131567",
- "HP:0000479",
- "HP:0000587",
- "UPHENO:0046406",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0011843",
- "UPHENO:0041075",
- "HP:0012372",
- "UPHENO:0068932",
- "UBERON:0015007",
- "HP:0001317",
- "UPHENO:0008998",
- "HP:0000598",
- "UPHENO:0087472",
- "UPHENO:0003074",
- "HP:0011729",
- "UPHENO:0050063",
- "UPHENO:0086589",
- "CL:0000763",
- "UPHENO:0003026",
- "UBERON:0000990",
- "UPHENO:0050014",
- "NCBITaxon:2759",
- "NCBITaxon:6072",
- "UPHENO:0087614",
- "UPHENO:0003066",
- "UPHENO:0003050",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "UPHENO:0033568",
- "UPHENO:0074330",
- "GO:0032501",
- "UPHENO:0002325",
- "UPHENO:0003698",
- "GO:0010629",
- "GO:0032502",
- "HP:0001274",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0002398",
- "HP:0000009",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "GO:0008150",
- "UPHENO:0046392",
- "UPHENO:0080382",
- "UBERON:0004708",
- "GO:0048856",
- "UPHENO:0052694",
- "UBERON:0005944",
- "UBERON:0005282",
- "UPHENO:0049966",
- "HP:0001511",
- "GO:0005623",
- "UPHENO:0011576",
- "HP:0020047",
- "HP:0001510",
- "BFO:0000015",
- "UPHENO:0050068",
- "UPHENO:0008430",
- "BFO:0000003",
- "UPHENO:0050625",
- "UPHENO:0080010",
- "GO:0031326",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002422",
- "UPHENO:0049587",
- "UPHENO:0050106",
- "HP:0009380",
- "UBERON:0002102",
- "CL:0000225",
- "UPHENO:0000543",
- "GO:0055127",
- "GO:0007605",
- "HP:0011314",
- "UPHENO:0004518",
- "UPHENO:0052161",
- "UPHENO:0002574",
- "UPHENO:0025585",
- "UPHENO:0052970",
- "UPHENO:0078316",
- "UPHENO:0002832",
- "UBERON:0004571",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UPHENO:0078092",
- "HP:0031704",
- "UPHENO:0052231",
- "UPHENO:0025507",
- "UPHENO:0005517",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UBERON:0034921",
- "UBERON:0001690",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0076901",
- "HP:0000405",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UPHENO:0002240",
- "UBERON:0015025",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0076812",
- "UPHENO:0050234",
- "UPHENO:0005512",
- "HP:0000364",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0002634",
- "UPHENO:0005513",
- "BFO:0000004",
- "UPHENO:0003412",
- "UPHENO:0005437",
- "UPHENO:0081435",
- "UPHENO:0005518",
- "HP:0007375",
- "HP:0034430",
- "UPHENO:0008668",
- "UPHENO:0009146",
- "UPHENO:0008548",
- "UPHENO:0069161",
- "UPHENO:0006894",
- "UPHENO:0080209",
- "HP:0008056",
- "GO:0010468",
- "UPHENO:0069523",
- "GO:0015833",
- "UPHENO:0011825",
- "UPHENO:0066925",
- "UBERON:0015043",
- "UPHENO:0025845",
- "HP:0000821",
- "UPHENO:0002403",
- "UPHENO:0066934",
- "UPHENO:0026073",
- "UBERON:0000949",
- "HP:0002926",
- "HP:0031071",
- "UPHENO:0003027",
- "UPHENO:0066911",
- "HP:0010935",
- "UBERON:0002368",
- "UPHENO:0086019",
- "HP:0000820",
- "UPHENO:0026312",
- "UPHENO:3000004",
- "UPHENO:0066930",
- "UPHENO:0066913",
- "UBERON:0002530",
- "UPHENO:0002529",
- "UPHENO:0026813",
- "UPHENO:0075902",
- "UPHENO:0002654",
- "UPHENO:0024906",
- "UPHENO:0066903",
- "UBERON:0002046",
- "UPHENO:0076957",
- "UPHENO:0077391",
- "UPHENO:0049890",
- "UPHENO:0002874",
- "UPHENO:0004469",
- "UBERON:0002028",
- "UPHENO:0004802",
- "UPHENO:0081601",
- "UPHENO:0071325",
- "UPHENO:0003459",
- "UBERON:0004733",
- "HP:0002438",
- "UBERON:0002616",
- "UBERON:0003834",
- "HP:0000079",
- "UPHENO:0080208",
- "UPHENO:0075948",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UPHENO:0071335",
- "HP:0012443",
- "HP:0007364",
- "GO:0065008",
- "UPHENO:0071339",
- "HP:0001631",
- "UPHENO:0071315",
- "UPHENO:0041821",
- "UPHENO:0049874",
- "HP:0002308",
- "UBERON:0000073",
- "UPHENO:0081579",
- "HP:0001367",
- "UBERON:0005174",
- "HP:0001000",
- "HP:0003468",
- "UBERON:0006555",
- "UBERON:0005434",
- "UBERON:0000982",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002713",
- "UPHENO:0002813",
- "UPHENO:0002646",
- "UBERON:0004905",
- "UPHENO:0003092",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0078067",
- "UBERON:0001436",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0004621",
- "UPHENO:0069163",
- "UBERON:0002101",
- "UPHENO:0078068",
- "UPHENO:0002616",
- "UBERON:0002090",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0026994",
- "HP:0045060",
- "UPHENO:0046405",
- "UPHENO:0078125",
- "UBERON:0010913",
- "UPHENO:0003812",
- "UBERON:0004247",
- "UBERON:0012354",
- "UPHENO:0078169",
- "UPHENO:0002674",
- "UPHENO:0076767",
- "UPHENO:0002769",
- "UPHENO:0049927",
- "UBERON:0002412",
- "HP:0001874",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0078098",
- "HP:0000370",
- "UPHENO:0002269",
- "UPHENO:0011568",
- "HP:0008058",
- "UPHENO:0002642",
- "HP:0000609",
- "UPHENO:0081264",
- "UPHENO:0050121",
- "GO:0007154",
- "GO:0140352",
- "GO:0051234",
- "GO:0009987",
- "UPHENO:0076740",
- "GO:0065007",
- "UPHENO:0049829",
- "UPHENO:0050581",
- "HP:0001655",
- "UPHENO:0002553",
- "GO:0002790",
- "UPHENO:0049871",
- "UBERON:0015021",
- "UPHENO:0009021",
- "UPHENO:0049691",
- "UPHENO:0015324",
- "HP:0032367",
- "UPHENO:0001003",
- "UPHENO:0049724",
- "UPHENO:0080351",
- "UPHENO:0050064",
- "UBERON:0010912",
- "UPHENO:0049647",
- "UBERON:0011676",
- "GO:0007267",
- "UBERON:0000179",
- "GO:0071705",
- "GO:0046903",
- "GO:0009914",
- "UPHENO:0046571",
- "UBERON:0001555",
- "HP:0025668",
- "UPHENO:0005230",
- "UPHENO:0008709",
- "HP:0012638",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0050778",
- "GO:0042592",
- "UPHENO:0025176",
- "UPHENO:0011548",
- "UPHENO:0005642",
- "GO:0031327",
- "HP:0011603",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0002704",
- "UBERON:0004119",
- "GO:0031324",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "HP:0040012",
- "HP:0001999",
- "UBERON:0001895",
- "UPHENO:0049620",
- "HP:0012795",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "HP:0003221",
- "UPHENO:0078606",
- "UPHENO:0087940",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0050126",
- "GO:0048523",
- "UBERON:0002336",
- "UPHENO:0002668",
- "HP:0002984",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0074230",
- "GO:0009889",
- "UPHENO:0084771",
- "UBERON:0004086",
- "UBERON:0001890",
- "UPHENO:0078195",
- "HP:0002060",
- "HP:0100547",
- "UPHENO:0010850",
- "UBERON:0004145",
- "UPHENO:0087920",
- "UPHENO:0003001",
- "UPHENO:0088047",
- "HP:0012210",
- "UPHENO:0002368",
- "HP:0010936",
- "UPHENO:0031125",
- "UPHENO:0046404",
- "HP:0000119",
- "UPHENO:0002219",
- "UPHENO:0066918",
- "UBERON:0006077",
- "UPHENO:0063616",
- "UPHENO:0075804",
- "UPHENO:0025882",
- "UBERON:0009856",
- "UPHENO:0002909",
- "UBERON:0010544",
- "UPHENO:0003101",
- "UBERON:0002544",
- "UBERON:0001255",
- "UPHENO:0002743",
- "UBERON:0001008",
- "UPHENO:0002636",
- "UBERON:0005173",
- "HP:0025634",
- "UPHENO:0003093",
- "UPHENO:0002576",
- "UPHENO:0002437",
- "UPHENO:0004757",
- "UBERON:0001556",
- "HP:0100691",
- "HP:0003319",
- "UBERON:0003129",
- "HP:0025031",
- "HP:0000076",
- "UPHENO:0002282",
- "UBERON:0036295",
- "UPHENO:0002827",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UBERON:0000075",
- "HP:0000252",
- "UPHENO:0004704",
- "UPHENO:0081566",
- "UBERON:0000948",
- "UPHENO:0002901",
- "HP:0000356",
- "HP:0003974",
- "UPHENO:0002865",
- ],
- "has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
- "renal system morphology phenotype",
- "kidney phenotype",
- "abdomen element phenotype",
- "Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
- "abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
- "vessel",
- "vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
- "blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
- "limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
- "anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
- "multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
- "long bone phenotype",
- "decreased length of metapodium bone 1",
- "appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
- "quality",
- "size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
- "All",
- "formed anatomical structure",
- "limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
- "appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
- "independent continuant",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
- "limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
- "compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
- "limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "mesoderm-derived structure",
- "Absent forearm bone",
- "anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
- "musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
- "endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
- "anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
- "excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
- "anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
- "anatomical entity",
- "interatrial septum",
- "phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
- "specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
- "decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
+ "UPHENO:0002926",
+ "UPHENO:0086700",
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "subdivision of organism along main body axis phenotype",
+ "Morphological central nervous system abnormality",
"craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
- "decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "central nervous system morphology phenotype",
+ "head",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral morphology",
+ "structure with developmental contribution from neural crest",
+ "cellular organisms",
+ "forebrain",
"central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
- "musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
- "organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
- "hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
- "Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "system process phenotype",
- "decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
- "Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
- "hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
- "lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
- "excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
- "anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
- "Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
+ "Abnormal skull morphology",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "structure with developmental contribution from neural crest phenotype",
+ "skull phenotype",
+ "main body axis",
+ "skull morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
"Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
"regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
+ "central nervous system",
+ "Abnormal axial skeleton morphology",
+ "head morphology phenotype",
+ "postcranial axial skeletal system",
+ "telencephalon morphology phenotype",
+ "craniocervical region phenotype",
+ "body proper",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "head phenotype",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "craniocervical region",
+ "closing of the ectoderm-derived structure",
+ "cranial skeletal system",
+ "digestive system",
"decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
- "Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
+ "regulation of gene expression phenotype",
"closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
+ "limb bone",
+ "anus atresia",
+ "anatomical structure atresia",
+ "digestive system morphology phenotype",
+ "brain",
+ "myeloblast",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "anatomical conduit",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "closing of the material anatomical entity",
+ "Acute lymphoblastic leukemia",
+ "hematopoietic cell",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Acute myeloid leukemia",
+ "Decreased anatomical entity mass",
"digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
- "Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
- "decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
+ "material anatomical entity mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "anatomical entity mass phenotype",
+ "decreased size of the multicellular organism",
+ "Failure to thrive",
+ "Decreased body weight",
+ "Abnormality of chromosome stability",
+ "negative regulation of biological process",
+ "negative regulation of gene expression",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "biological regulation",
+ "decreased growth",
+ "cellular process",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "decreased material anatomical entity mass",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "regulation of macromolecule metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "endochondral bone phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "integument",
+ "decreased length of anatomical structure",
+ "pigmentation",
+ "increased biological_process in skin of body",
+ "Abnormal cellular physiology",
+ "Abnormality of skin pigmentation",
"Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
+ "increased qualitatively biological_process",
"nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
+ "multicellular organismal process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Abnormal skin morphology",
+ "negative regulation of biological process phenotype",
+ "digestive system phenotype",
+ "increased pigmentation",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Macule",
+ "skeleton of limb phenotype",
+ "orifice atresia",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "Abnormality of the digestive system",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "integument phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "nucleate cell",
+ "Abnormality of the anus",
+ "tube phenotype",
+ "endochondral bone",
+ "Abnormal immune system morphology",
+ "Neoplasm by anatomical site",
+ "myeloid cell",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "brain phenotype",
"biological_process phenotype",
+ "decreased embryo development",
+ "homeostatic process phenotype",
+ "decreased developmental process",
"Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
- "process",
+ "decreased qualitatively multicellular organism development",
+ "manual digit 1 morphology phenotype",
+ "Hyperpigmentation of the skin",
"embryo development",
- "anatomical collection phenotype",
- "occurrent",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
+ "regulation of cellular process phenotype",
+ "process",
+ "biological regulation phenotype",
+ "nervous system morphology phenotype",
+ "musculature of body phenotype",
+ "skeletal system",
+ "Leukemia",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development",
+ "Abnormal leukocyte morphology",
+ "decreased qualitatively embryo development",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "decreased qualitatively developmental process",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body weight",
"delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
- "decreased qualitatively multicellular organism development",
+ "developmental process rate phenotype",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "anatomical structure development phenotype",
+ "Abnormal hand morphology",
+ "decreased anatomical structure development",
+ "biological_process rate phenotype",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "skin of body morphology phenotype",
+ "Bone marrow hypocellularity",
+ "decreased height of the anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "bone marrow cell",
+ "bone marrow",
+ "eukaryotic cell",
+ "Chromosome breakage",
+ "Abnormality of the head",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "metabolic process",
+ "decreased biological_process",
+ "Abnormality of the skeletal system",
+ "bone cell",
+ "precursor cell",
+ "aplasia or hypoplasia of anatomical entity",
+ "non-connected functional system",
+ "tissue",
+ "hematopoietic system phenotype",
+ "Phenotypic abnormality",
+ "digestive tract",
+ "Abnormality of blood and blood-forming tissues",
"embryo development phenotype",
- "delayed growth",
+ "anatomical conduit phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "digit",
+ "root",
+ "limb",
+ "Abnormal nervous system morphology",
+ "Short digit",
+ "pectoral appendage",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
"decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
- "bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
- "brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "arm",
+ "lateral structure phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "axial skeletal system",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "appendicular skeleton morphology phenotype",
+ "multi-tissue structure",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "anatomical collection",
+ "Abnormal brain morphology",
+ "autopod region",
"closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
- "structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
+ "multi-limb segment region",
+ "decreased anatomical structure mass",
+ "telencephalon phenotype",
+ "manual digit 1 or 5",
+ "increased biological_process",
+ "anatomical structure development",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "bone element",
+ "digit 1 plus metapodial segment",
+ "Chromosomal breakage induced by crosslinking agents",
+ "manual digit morphology in the manus phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical system phenotype",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "subdivision of organism along appendicular axis phenotype",
+ "negative regulation of cellular process phenotype",
+ "musculature of body",
+ "paired limb/fin",
+ "multicellular organism morphology phenotype",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "decreased multicellular anatomical structure mass",
+ "upper limb segment phenotype",
"material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
+ "mesoderm-derived structure phenotype",
+ "material entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "subdivision of skeleton",
"manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
- "regulation of macromolecule biosynthetic process",
- "articular system",
- "Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
+ "anatomical entity morphology phenotype",
+ "system",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "manual digit phenotype",
+ "taxon specific phenotype",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
"skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
+ "appendage",
+ "organism subdivision phenotype",
+ "All",
+ "decreased length of digit",
+ "Abnormality of the hand",
+ "organ phenotype",
+ "autopod region morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "decreased qualitatively growth",
+ "limb phenotype",
+ "appendage girdle complex",
+ "Abnormal appendicular skeleton morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "skin of body",
"decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "skeleton of manus",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "pectoral appendage skeleton",
+ "Hematological neoplasm",
+ "limb morphology phenotype",
+ "mesoderm-derived structure",
+ "growth phenotype",
+ "organ system subdivision",
+ "immune system",
"anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
- "integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
- "regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "occurrent",
+ "digit 1 phenotype",
+ "cell",
+ "limb endochondral element phenotype",
"homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "arm phenotype",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "Abnormal digit morphology",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "acropodium region",
+ "autopodial skeleton",
+ "appendicular skeleton phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of cellular process",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased length of manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "multicellular anatomical structure mass phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "continuant",
+ "hemolymphoid system",
+ "decreased size of the manual digit",
+ "manual digitopodium region",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "decreased size of the autopodial extension",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
- "Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
+ "manus",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "skeleton of pectoral complex",
+ "anatomical entity",
+ "skull",
+ "decreased size of the anatomical structure",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "manual digit plus metapodial segment",
+ "appendage phenotype",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "appendicular skeletal system",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit 1",
+ "tube",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "delayed growth",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "bone element phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "negative regulation of metabolic process",
+ "Short finger",
"skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit",
+ "multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "integumental system",
+ "Abnormal finger morphology",
+ "Abnormal digestive system morphology",
+ "ectoderm-derived structure atresia",
+ "decreased length of multicellular anatomical structure",
+ "bone of appendage girdle complex phenotype",
+ "decreased multicellular organism development",
+ "musculoskeletal system",
+ "digit phenotype",
+ "Abnormal cellular immune system morphology",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical structure mass phenotype",
+ "musculoskeletal system phenotype",
+ "multicellular organism",
+ "skeleton phenotype",
+ "decreased length of autopodial extension",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "musculature",
+ "regional part of nervous system",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "material anatomical entity phenotype",
+ "Localized skin lesion",
+ "phenotypic effect",
+ "decreased length of organism subdivision",
+ "Abnormality of the immune system",
+ "anatomical entity phenotype",
+ "decreased length of digit 1",
+ "skeletal element",
+ "subdivision of organism along main body axis",
+ "regulation of biological process phenotype",
+ "multicellular anatomical structure",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "limb bone phenotype",
+ "digit 1 or 5",
+ "Abnormal limb bone morphology",
+ "forelimb phenotype",
+ "embryo development rate phenotype",
+ "pectoral appendage phenotype",
],
- "has_phenotype_count": 44,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
+ "name": "Fanconi anemia complementation group O",
"full_name": None,
"deprecated": None,
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
- "xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860",
- ],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221",
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023",
],
"has_phenotype_label": [
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
+ "Short stature",
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia",
],
"has_phenotype_closure": [
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
+ "UBERON:0000481",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0002548",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
+ "UPHENO:0003047",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "GO:0008150",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
"GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
+ "GO:0005623",
"UPHENO:0050040",
- "HP:0003221",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UPHENO:0049757",
+ "GO:0010629",
+ "UPHENO:0002411",
"UPHENO:0049904",
- "UPHENO:0050784",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
- "GO:0008152",
- "GO:0042592",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0002269",
- "HP:0012758",
- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
- "UBERON:0000019",
- "UPHENO:0069523",
- "UPHENO:0049757",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UPHENO:0002844",
- "UPHENO:0087924",
- "HP:0000478",
- "HP:0100887",
- "UPHENO:0086589",
- "UPHENO:3000007",
- "UBERON:0001456",
- "UBERON:0004088",
- "UPHENO:0002764",
- "UBERON:0013701",
- "HP:0000568",
- "UPHENO:0075219",
- "UPHENO:0078606",
- "GO:0005623",
- "UPHENO:0069064",
- "UPHENO:0003025",
- "UPHENO:0004757",
- "UBERON:0002104",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
"UBERON:0010314",
- "UPHENO:0068914",
- "UPHENO:0080209",
- "UBERON:0000033",
- "UBERON:0007811",
- "UBERON:0013702",
- "UPHENO:0005058",
- "UPHENO:0004494",
- "HP:0008897",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0054957",
- "HP:0007565",
- "UPHENO:0002548",
- "UPHENO:0003811",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0012372",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0012733",
- "GO:0043473",
- "UBERON:0002199",
- "UPHENO:0002861",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0003020",
- "UPHENO:0003049",
- "UPHENO:0004459",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0011355",
- "UPHENO:0003514",
- "UPHENO:0088186",
- "UPHENO:0052694",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
"HP:0003220",
- "HP:0002817",
- "UBERON:0010230",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
- "UBERON:0000075",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
"UPHENO:0003069",
- "UPHENO:0003812",
- "UBERON:0006058",
- "UPHENO:0002635",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
"UPHENO:0069605",
- "UBERON:0010712",
- "UPHENO:0080126",
- "HP:0000118",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012475",
- "HP:0000957",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
- "HP:0009815",
- "UBERON:0002428",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
"UBERON:0004121",
- "UPHENO:0050106",
- "UPHENO:0002648",
- "UPHENO:0080099",
+ "UPHENO:0053580",
"UBERON:5006048",
- "HP:0001871",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
"UBERON:0001442",
- "UPHENO:0001003",
- "UPHENO:0075997",
- "UPHENO:0068971",
- "UPHENO:0002870",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UBERON:0010538",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0000001",
- "UPHENO:0002433",
- "UPHENO:0046552",
- "UPHENO:0050034",
- "HP:0006265",
- "HP:0045060",
- "UBERON:0001440",
- "UPHENO:0002554",
- "GO:0009890",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0069684",
- "UBERON:0002102",
- "UPHENO:0003095",
- "UPHENO:0002896",
- "HP:0040012",
- "UBERON:0004710",
- "UPHENO:0050068",
- "UBERON:0019231",
- "UPHENO:0002586",
- "UBERON:0010708",
- "UBERON:0000026",
- "HP:0011927",
- "HP:0011297",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0084763",
- "HP:0009381",
- "HP:0005927",
- "UBERON:5001463",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
"UPHENO:0003415",
- "UPHENO:0069161",
- "HP:0000924",
- "GO:0031323",
- "HP:0033127",
- "UPHENO:0053330",
- "GO:0050794",
- "UBERON:0000061",
- "UPHENO:0087907",
- "UPHENO:0003082",
- "UPHENO:0076703",
- "UPHENO:0002632",
- "UBERON:5002389",
- "GO:0010558",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
"UPHENO:0076723",
- "UPHENO:0002949",
- "UBERON:0004288",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
"UPHENO:0076740",
- "UPHENO:0002526",
- "GO:0048519",
- "UPHENO:0087006",
- "UPHENO:0076724",
- "UBERON:0001460",
- "GO:0050789",
- "UPHENO:0080393",
- "HP:0000152",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
"UPHENO:0046505",
- "UPHENO:0086633",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
"UPHENO:0086635",
- "UPHENO:0053456",
- "UPHENO:0046411",
- "GO:0032502",
- "UBERON:0000479",
- "UBERON:0004765",
- "UBERON:0004120",
- "UBERON:0002091",
- "UBERON:0002544",
- "UPHENO:0005597",
- "UPHENO:0004476",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
"HP:0002813",
- "UPHENO:0080377",
- "HP:0025461",
- "UPHENO:0002600",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "UPHENO:0068838",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
"UBERON:0011216",
- "UBERON:0006048",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
+ "GO:0009890",
+ "UPHENO:0046741",
"RO:0002577",
- "UPHENO:0086700",
- "UBERON:0002416",
- "HP:0001172",
- "CL:0000000",
- "UPHENO:0002905",
- "UPHENO:0076692",
- "UPHENO:0046624",
- "UPHENO:0052778",
- "HP:0001155",
- "UBERON:0015061",
- "GO:0009892",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0004375",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0081423",
+ "UBERON:0010538",
"UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0002910",
- "UPHENO:0002944",
- "UBERON:0007272",
- "HP:0009778",
- "UBERON:0004381",
- "UBERON:0015212",
- "UPHENO:0049775",
- "UBERON:5002544",
- "UBERON:0011582",
- "UPHENO:0002650",
- "UBERON:0006717",
- "UPHENO:0076727",
- "UBERON:0005881",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0004708",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
+ "HP:0040012",
+ "UPHENO:0046397",
"UPHENO:0001001",
- "UBERON:0002204",
- "HP:0009115",
- "UBERON:0000465",
- "HP:0040068",
- "UPHENO:0046740",
- "UPHENO:0002782",
- "UPHENO:0050126",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
"UPHENO:0046445",
- "UPHENO:0046741",
- "UPHENO:0002746",
- "UPHENO:0002948",
- "UPHENO:0052178",
- "UPHENO:0000543",
- "UPHENO:0003799",
- "UPHENO:0002593",
- "GO:0065007",
- "UPHENO:0086172",
- "HP:0000271",
- "UPHENO:0046750",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
+ "UPHENO:0000541",
+ "UPHENO:0084834",
"UPHENO:0046426",
- "GO:0010468",
- "UBERON:0019221",
- "UPHENO:0003005",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UPHENO:0012308",
- "UBERON:0000383",
- "UPHENO:0080114",
- "UPHENO:0002530",
- "GO:0010629",
- "UPHENO:0005596",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0004456",
- "UPHENO:0001002",
- "UBERON:0012141",
+ "HP:0011314",
+ "NCBITaxon:1",
"UPHENO:0069327",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UPHENO:0003410",
- "UPHENO:0005214",
+ "UBERON:0003103",
+ "UPHENO:0069030",
"HP:0011017",
- "BFO:0000015",
- "UPHENO:0012312",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UPHENO:0002866",
- "BFO:0000020",
- "UPHENO:0005642",
- "GO:0060255",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
"HP:0006496",
- "HP:0005561",
- "UBERON:0002389",
- "UPHENO:0002926",
- "HP:0009601",
- "UPHENO:0002976",
- "GO:0008150",
- "UBERON:0001015",
- "UPHENO:0003227",
- "UPHENO:0075195",
- "UPHENO:0069674",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
+ "UPHENO:0049620",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0050784",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0033127",
+ "HP:0002818",
+ "UPHENO:0074335",
+ "BFO:0000004",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
"UPHENO:0002559",
- "UPHENO:0003065",
- "BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
- "UBERON:0001062",
- "UBERON:0001474",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000062",
- "UBERON:0010740",
- "GO:0031049",
- "UPHENO:0000541",
- "UBERON:0002529",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0049868",
+ "UPHENO:0012312",
+ "UBERON:0013702",
+ "UPHENO:0005214",
"UBERON:0034923",
- "UPHENO:0046707",
- "UPHENO:0002983",
- "GO:0031324",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UBERON:0005451",
- "UPHENO:0002964",
- "UPHENO:0069062",
- "UPHENO:0012440",
- "HP:0011842",
- "UPHENO:0069266",
- "HP:0001511",
+ "UPHENO:0076692",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
+ "UPHENO:0002926",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
+ "UPHENO:0002385",
+ "UPHENO:0001303",
+ "UBERON:8450002",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
+ "UBERON:0000489",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UBERON:0001062",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
+ "UPHENO:0002526",
"UPHENO:0002731",
- "UBERON:0010707",
- "UBERON:0001032",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0050007",
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
"HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "CL:0001035",
- "HP:0001574",
- "UBERON:0002193",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "HP:0012145",
- "UBERON:0002405",
- "HP:0002715",
- "UPHENO:0005647",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0012139",
- "GO:0007275",
- "UPHENO:0046528",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UPHENO:0005573",
- "HP:0008056",
- "UBERON:0000970",
- "UBERON:0001444",
- "UPHENO:0080382",
- "HP:0012759",
- "GO:0048856",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
"UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0049966",
- "UPHENO:0005433",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0001434",
- "UPHENO:0052160",
- "BFO:0000003",
- "GO:0009790",
- "HP:0000234",
- "UPHENO:0005097",
- "UPHENO:0054970",
],
"has_phenotype_closure_label": [
- "Chromosome breakage",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
+ "muscle structure",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
"negative regulation of biological process phenotype",
- "regulation of biological process",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
"negative regulation of gene expression",
- "metabolic process",
"homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of gene expression phenotype",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
"regulation of macromolecule biosynthetic process",
"negative regulation of biosynthetic process",
- "biological regulation phenotype",
- "regulation of gene expression",
- "negative regulation of cellular biosynthetic process",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "Abnormality of the nervous system",
- "Abnormal nervous system physiology",
- "anatomical system physiology phenotype",
- "anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "nervous system phenotype",
- "Neurodevelopmental abnormality",
- "Abnormality of the head",
- "sense organ phenotype",
- "regulation of biosynthetic process",
- "sense organ",
- "entire sense organ system",
- "decreased size of the eyeball of camera-type eye",
- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
- "decreased size of the sense organ",
- "visual system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "decreased size of the organ",
- "main body axis",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
"negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
- "Abnormality of globe size",
- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
"ectoderm-derived structure",
- "Cafe-au-lait spot",
- "ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
"decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
"manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
"Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
+ "male reproductive organ phenotype",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
+ "male reproductive organ",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
"anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
+ "Renal insufficiency",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
+ "Growth delay",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
"decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
- "regulation of cellular biosynthetic process",
- "decreased length of digit 1",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
+ "renal system physiology phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
+ "abdominal segment element physiology phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "viscus",
+ "paired limb/fin skeleton",
"limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "segment of autopod",
- "manus",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
"phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
- "Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
+ "lateral structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
"pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
"skeleton of pectoral complex",
- "manual digit plus metapodial segment",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
"musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
- "regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "long bone",
+ "skeleton",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
+ "organism subdivision phenotype",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
- "endochondral bone",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
- "upper limb segment",
- "Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
- "arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
+ "decreased length of digit 1 or 5",
"appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
- "manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
- "multicellular organism",
- "embryo development",
+ "Abnormality of the musculature of the upper limbs",
"endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "camera-type eye phenotype",
- "digit 1 phenotype",
- "multicellular anatomical structure phenotype",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "Abnormal cellular phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
"decreased length of multicellular anatomical structure",
- "mesoderm-derived structure",
- "Abnormal digit morphology",
- "digit 1",
- "Growth delay",
- "autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "All",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
+ "growth",
+ "organ system subdivision phenotype",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
- "decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
- "decreased length of digit 1 or 5",
- "developmental process rate phenotype",
- "decreased length of organism subdivision",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "developmental process",
"multicellular organism morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "material entity",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
"homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
+ "Abnormality of the kidney",
+ "trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
+ "material anatomical entity phenotype",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
+ "multicellular organism",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
+ "subdivision of trunk phenotype",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
+ "anatomical entity",
+ "compound organ",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
+ "organ",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
+ "multicellular anatomical structure",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
"size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
"digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype",
+ "renal system",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
+ "decreased height of the multicellular organism",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0014638",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group T",
"full_name": None,
"deprecated": None,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.",
+ "xref": ["DOID:0111081", "GARD:16111", "MEDGEN:896157", "OMIM:616435", "UMLS:C4084840"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCT",
+ "Fanconi Anemia, complementation group type T",
+ "Fanconi anaemia caused by mutation in UBE2T",
+ "Fanconi anaemia complementation group type T",
+ "Fanconi anemia caused by mutation in UBE2T",
+ "Fanconi anemia complementation group type T",
+ "Fanconi anemia, complementation group T",
+ "UBE2T Fanconi anaemia",
+ "UBE2T Fanconi anemia",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
+ "HP:0001876",
"HP:0001873",
+ "HP:0009778",
"HP:0005528",
- "HP:0006254",
- "HP:0003221",
+ "HP:0009942",
+ "HP:0004808",
"HP:0001903",
+ "HP:0003221",
"HP:0004322",
- "HP:0000252",
+ "HP:0000365",
+ "HP:0010628",
],
"has_phenotype_label": [
- "Neutropenia",
+ "Pancytopenia",
"Thrombocytopenia",
+ "Short thumb",
"Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
+ "Duplication of thumb phalanx",
+ "Acute myeloid leukemia",
"Anemia",
+ "Chromosomal breakage induced by crosslinking agents",
"Short stature",
- "Microcephaly",
+ "Hearing impairment",
+ "Facial palsy",
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0081700",
"HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
+ "UBERON:0001577",
+ "UPHENO:0002908",
+ "UPHENO:0076710",
+ "UPHENO:0004523",
+ "UPHENO:0004492",
+ "HP:0000301",
+ "UPHENO:0003081",
"HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
+ "UPHENO:0002928",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0010827",
+ "HP:0011805",
+ "UBERON:0013700",
+ "UBERON:0000010",
+ "UPHENO:0078730",
+ "UPHENO:0080555",
+ "HP:0031910",
+ "UPHENO:0005116",
+ "UPHENO:0002320",
+ "HP:0012638",
+ "UPHENO:0004508",
+ "HP:0006824",
+ "UBERON:0004473",
+ "HP:0011804",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0001033",
+ "UBERON:0000122",
+ "UBERON:0034713",
+ "UPHENO:0002759",
+ "UPHENO:0002562",
+ "UBERON:0001444",
+ "HP:0001324",
+ "UPHENO:3000000",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UBERON:0004461",
+ "UPHENO:0003026",
+ "UBERON:0000020",
+ "UBERON:0001032",
+ "UPHENO:0002386",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0002267",
+ "UPHENO:0002308",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0002866",
+ "UPHENO:0052970",
+ "UPHENO:0003025",
+ "UPHENO:0005206",
+ "UBERON:0011676",
"UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
- "UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
+ "UPHENO:0002553",
+ "GO:0050954",
+ "GO:0032501",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "GO:0007605",
+ "UPHENO:0002764",
+ "UPHENO:0050106",
+ "GO:0060255",
+ "UPHENO:0002352",
+ "UPHENO:0052231",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005214",
+ "UPHENO:0052159",
+ "UPHENO:0002880",
+ "UPHENO:0005518",
+ "UPHENO:0005596",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "UBERON:0006717",
+ "CL:0002191",
+ "UBERON:0001690",
+ "UPHENO:0069254",
"UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
"UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "BFO:0000015",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "UPHENO:0049587",
+ "HP:0003220",
+ "GO:0009889",
+ "UBERON:0010741",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
+ "GO:0031326",
+ "UBERON:5001463",
"UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
+ "UPHENO:0050065",
+ "UPHENO:0050040",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:0014892",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "CL:0002092",
+ "GO:0010605",
+ "UBERON:0000475",
+ "GO:0050877",
+ "HP:0001903",
+ "UPHENO:0002433",
+ "CL:0008001",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "HP:0002664",
+ "HP:0001881",
+ "HP:0001909",
+ "HP:0010987",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0049699",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0052178",
+ "UBERON:5102389",
+ "UPHENO:0052161",
+ "HP:0009602",
+ "HP:0009997",
+ "UBERON:0004249",
+ "UBERON:0002495",
+ "UBERON:0004381",
+ "GO:0042592",
+ "HP:0005918",
+ "UBERON:0012151",
+ "UPHENO:0002948",
+ "UBERON:0012357",
+ "UPHENO:0002926",
+ "UBERON:0001436",
+ "UBERON:0008229",
+ "HP:0005528",
+ "UBERON:0000075",
+ "UPHENO:0003022",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UPHENO:0084448",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UPHENO:0046741",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0088186",
+ "UPHENO:0002870",
+ "UBERON:5102544",
+ "UPHENO:0002648",
"UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
+ "UPHENO:0002945",
+ "HP:0000271",
+ "GO:0010629",
+ "HP:0002813",
+ "UPHENO:0003082",
"HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
+ "UPHENO:0075195",
+ "UBERON:0002529",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0004142",
+ "UBERON:0010543",
+ "HP:0001872",
+ "UBERON:0019221",
"BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
+ "UBERON:0002101",
+ "UBERON:0002204",
+ "UPHENO:0005517",
+ "UPHENO:0002600",
+ "UBERON:0005897",
+ "UBERON:0002389",
+ "UBERON:0000026",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0005513",
+ "UBERON:5101463",
+ "UPHENO:0004909",
+ "UPHENO:0004476",
+ "UPHENO:0005512",
+ "UBERON:0001474",
+ "UPHENO:0063794",
+ "UBERON:0003221",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UPHENO:0069266",
+ "UBERON:0004288",
+ "UBERON:0002376",
+ "UPHENO:0003227",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0076723",
"UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
+ "UPHENO:0084763",
+ "UBERON:0012475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "HP:0000924",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UBERON:0015024",
+ "UPHENO:0077391",
+ "UPHENO:0080126",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UPHENO:0001003",
+ "HP:0011927",
+ "UBERON:0010740",
+ "HP:0000364",
+ "RO:0002577",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "UBERON:0011779",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "HP:0009815",
+ "GO:0007600",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0002896",
+ "UBERON:0006058",
+ "UPHENO:0080079",
+ "UBERON:0015063",
+ "UBERON:0010538",
+ "UPHENO:0081423",
+ "UBERON:0013701",
+ "HP:0009142",
+ "UPHENO:0002708",
+ "UBERON:0001647",
+ "UPHENO:0003095",
+ "HP:0012145",
+ "BFO:0000003",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:5006048",
"UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
+ "CL:0000255",
+ "UBERON:0002398",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0002385",
+ "UPHENO:0003812",
+ "UPHENO:0002731",
"UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
- "UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
+ "GO:0048519",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "UPHENO:0069236",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UBERON:0010712",
+ "UPHENO:0086633",
"CL:0000763",
- "UPHENO:0081547",
+ "UPHENO:0050620",
+ "UBERON:5002389",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UBERON:0000465",
+ "UPHENO:0002650",
+ "UPHENO:0011531",
+ "UPHENO:0012274",
+ "UPHENO:0079876",
+ "UPHENO:0086700",
+ "UPHENO:0002604",
+ "UBERON:0010688",
+ "HP:0004275",
+ "UPHENO:0003047",
+ "UBERON:5106048",
+ "HP:0033127",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0049775",
+ "UPHENO:0046528",
+ "UPHENO:0002559",
+ "UPHENO:0002782",
+ "UPHENO:0085344",
+ "UPHENO:0075159",
+ "UPHENO:0001001",
+ "HP:0040012",
+ "UBERON:0001456",
+ "UBERON:0012358",
+ "UPHENO:0069674",
+ "UBERON:0001463",
+ "UPHENO:0069327",
+ "HP:0030319",
+ "HP:0001873",
+ "UBERON:0015025",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0003620",
+ "UBERON:0010758",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UPHENO:0004494",
+ "GO:0009892",
+ "UPHENO:0002733",
+ "UPHENO:0080352",
"HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
- "CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
+ "UBERON:0002390",
+ "HP:0001172",
+ "UPHENO:0063787",
+ "UPHENO:0004459",
+ "HP:0009942",
+ "UPHENO:0002944",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0001876",
+ "UPHENO:0002586",
+ "UPHENO:0088162",
+ "UPHENO:0003432",
+ "UPHENO:0005092",
+ "UBERON:0000033",
+ "UPHENO:0002568",
"UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
- "NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
+ "HP:0001871",
+ "GO:0003008",
+ "HP:0001877",
+ "UPHENO:0012440",
+ "UBERON:0001630",
+ "UBERON:0005881",
"UPHENO:0080010",
- "HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
+ "HP:0011844",
"CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
+ "UPHENO:0046483",
+ "UPHENO:0069684",
+ "HP:0000365",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0032251",
+ "UPHENO:0088166",
+ "HP:0011875",
+ "UPHENO:0076675",
+ "UBERON:0010912",
+ "UPHENO:0077418",
+ "UPHENO:0082875",
+ "UBERON:0010708",
+ "UBERON:0004710",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UBERON:0012141",
+ "UPHENO:0077373",
+ "UBERON:0004765",
+ "HP:0031704",
"UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
- "UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
- "UPHENO:0005092",
- "UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
- "UPHENO:0050007",
- "UBERON:0015203",
+ "UPHENO:0002570",
+ "GO:0005623",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001434",
+ "UPHENO:0085302",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0002405",
+ "UPHENO:0002903",
+ "UBERON:0000383",
+ "HP:0005922",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0012308",
+ "CL:0000329",
+ "UBERON:0011250",
+ "UPHENO:0002526",
+ "UPHENO:0069062",
+ "UPHENO:0005433",
+ "UPHENO:0052165",
+ "HP:0009381",
+ "UPHENO:0086173",
+ "UPHENO:0002536",
"UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0087123",
+ "UBERON:0002428",
+ "CL:0000233",
+ "UPHENO:0088170",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "CL:0000839",
+ "UBERON:0010959",
+ "UBERON:0004375",
"CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
+ "UBERON:0010707",
+ "UPHENO:0076692",
+ "UPHENO:0002861",
"HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
- "GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
- "GO:0042592",
+ "UBERON:0015023",
+ "UBERON:0015203",
+ "UBERON:0012139",
+ "CL:0000457",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "UPHENO:0002910",
+ "CL:0000738",
+ "HP:0011873",
+ "UBERON:0004456",
"GO:0008152",
- "CHEBI:51143",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
"HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
- "GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
- "UPHENO:0078606",
- "GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
- "UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
- "UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
- "UPHENO:0050778",
- "UPHENO:0086172",
- "GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
- "UBERON:0000153",
- "UPHENO:0002536",
- "GO:0009890",
- "HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
- "HP:0040012",
- "UPHENO:0049620",
- "UPHENO:0075804",
"CL:0000232",
- "GO:0040007",
- "GO:0048519",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0012354",
+ "BFO:0000004",
+ "CL:0002242",
+ "HP:0004377",
+ "UPHENO:0002897",
+ "UBERON:0011216",
+ "UBERON:0034923",
+ "HP:0002488",
+ "UBERON:0008785",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0002193",
"UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
- "UPHENO:0050784",
- "GO:0010629",
- "UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
- "UPHENO:0088162",
- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
+ "CL:0000458",
+ "CL:0000225",
+ "BFO:0000002",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0002530",
+ "UBERON:0002544",
+ "CL:0000988",
+ "UPHENO:0086172",
+ "UPHENO:0002554",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "HP:0010628",
+ "UBERON:0002371",
"HP:0000002",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "GO:0010556",
+ "CL:0000151",
+ "CL:0000219",
+ "UBERON:0012150",
+ "UBERON:0000467",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
+ "subdivision of head",
+ "nerve",
+ "gustatory system phenotype",
+ "Abnormality of facial musculature",
"Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "facial nerve phenotype",
+ "cranial muscle phenotype",
+ "craniofacial/craniocervical phenotype",
+ "craniocervical muscle",
+ "face",
+ "Abnormal muscle physiology",
+ "skeletal musculature phenotype",
+ "multi cell part structure",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
+ "facial nerve",
+ "craniocervical muscle phenotype",
+ "muscle organ physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "multi cell part structure phenotype",
+ "cranial or facial muscle phenotype",
+ "skeletal musculature of head",
+ "gustatory system",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "face phenotype",
+ "axial musculature",
+ "decreased muscle organ strength",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "Abnormality of facial soft tissue",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "nerve phenotype",
+ "sensory system",
+ "system process phenotype",
+ "decreased qualitatively nervous system process",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
"structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
+ "Abnormal ear physiology",
+ "nervous system process",
+ "nervous system",
+ "multicellular organismal process",
+ "nervous system process phenotype",
+ "multicellular organismal process phenotype",
+ "sensory perception phenotype",
+ "system process",
+ "sense organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "sensory perception of sound",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "vestibulo-auditory system",
+ "main body axis",
+ "subdivision of organism along main body axis phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "phenotypic effect",
+ "entire sense organ system",
+ "appendicular skeleton phenotype",
+ "decreased qualitatively sensory perception",
"head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
+ "manual digit phenotype",
+ "sense organ",
+ "skeletal muscle organ, vertebrate phenotype",
"body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
+ "Hearing impairment",
+ "Abnormality of thrombocytes",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "decreased size of the multicellular organism",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "negative regulation of biological process phenotype",
"negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
+ "negative regulation of gene expression",
+ "organism subdivision",
+ "manual digit 1 plus metapodial segment",
+ "biological regulation",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "process",
+ "Thrombocytopenia",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
"number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "obsolete regulation of cellular metabolic process",
+ "number of hematopoietic cell phenotype",
+ "Abnormal cellular physiology",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "decreased length of manual digit 1 or 5",
+ "regulation of gene expression phenotype",
"cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
+ "endochondral bone phenotype",
+ "regulation of biosynthetic process phenotype",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "erythrocyte morphology phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "manual digit 1 phalanx endochondral element",
+ "Acute myeloid leukemia",
+ "endochondral bone",
"Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
+ "craniocervical region phenotype",
+ "Neoplasm by anatomical site",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "ear",
+ "decreased qualitatively system process",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "peripheral nervous system",
+ "bone of pectoral complex",
+ "cellular process",
+ "Duplication of phalanx of hand",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical system physiology phenotype",
+ "skeleton of digitopodium",
"Abnormal bone marrow cell morphology",
- "multicellular organism",
+ "autopod region phenotype",
+ "skeleton of manual digitopodium",
+ "individual digit of digitopodial skeleton",
+ "manual digit bone",
+ "digit 1 digitopodial skeleton",
+ "Abnormality of thumb phalanx",
+ "biological_process phenotype",
+ "Hearing abnormality",
+ "manual digit digitopodial skeleton",
+ "obsolete regulation of cellular biosynthetic process",
+ "skeleton of manual acropodium",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "decreased size of the autopodial extension",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "forelimb long bone",
+ "Duplication of thumb phalanx",
+ "Duplication of bones involving the upper extremities",
+ "manual digitopodium bone",
+ "digitopodium bone",
+ "decreased qualitatively sensory perception of sound",
+ "nerve of head region",
+ "phalanx of manus",
+ "Bone marrow hypocellularity",
+ "limb segment",
+ "cranial muscle",
+ "digit 1 or 5",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "pectoral appendage",
+ "Hematological neoplasm",
+ "decreased sensory perception of sound",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "arm",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "sensory perception of sound phenotype",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
+ "acropodial skeleton",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "decreased system process",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "digit 1",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
"Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
+ "limb",
+ "digit",
+ "endochondral element",
+ "Chromosomal breakage induced by crosslinking agents",
+ "appendicular skeleton morphology phenotype",
+ "manus bone",
+ "paralysed anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "Leukemia",
+ "skeletal system",
+ "musculature of body phenotype",
+ "digit phenotype",
+ "sensory perception",
+ "Abnormality of the face",
+ "decreased length of manual digit 1",
+ "Abnormal digit morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "musculoskeletal system phenotype",
+ "limb morphology phenotype",
+ "bone cell",
+ "Abnormality of the skeletal system",
+ "number of myeloid cell phenotype",
+ "subdivision of skeleton",
+ "manual digit",
"anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
+ "system",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
"Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "autopod region morphology phenotype",
+ "decreased length of anatomical structure",
"anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
+ "paired limb/fin skeleton",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "limb phenotype",
+ "appendage girdle complex",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "Pancytopenia",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "manual digit 1 digitopodial skeleton",
+ "skeleton of manus",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "Abnormal cellular immune system morphology",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "organism subdivision phenotype",
+ "appendage",
+ "growth phenotype",
+ "limb long bone",
+ "cell",
+ "limb endochondral element phenotype",
+ "homeostatic process",
+ "arm phenotype",
+ "anterior region of body",
+ "Abnormal finger phalanx morphology",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "occurrent",
+ "Abnormality of the upper limb",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "regulation of cellular process",
+ "decreased length of organism subdivision",
+ "platelet phenotype",
+ "ear physiology phenotype",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "delayed growth",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "long bone",
+ "skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased size of the anatomical structure",
+ "manual digit 1 morphology phenotype",
+ "upper limb segment phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "peripheral nervous system phenotype",
+ "acropodium region",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "Facial palsy",
+ "manual digitopodium region",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Weakness of facial musculature",
+ "decreased size of the manual digit",
+ "appendage phenotype",
+ "Abnormal hand morphology",
+ "phalanx endochondral element",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "bone element phenotype",
+ "autopod endochondral element",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "erythroid lineage cell morphology phenotype",
"anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "negative regulation of metabolic process",
+ "Short finger",
+ "Abnormal finger morphology",
+ "vestibulo-auditory system phenotype",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
+ "manus",
+ "anatomical structure",
+ "Abnormal platelet count",
+ "phenotype",
+ "appendicular skeletal system",
+ "aplasia or hypoplasia of manual digit 1",
+ "Abnormality of the ear",
+ "decreased length of manual digit",
+ "Duplication of hand bones",
+ "pectoral appendage phenotype",
+ "decreased nervous system process",
+ "non-connected functional system",
"aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "decreased number of cell",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "decreased biological_process",
"metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased length of autopodial extension",
"Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
+ "bone of appendage girdle complex phenotype",
"oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
+ "anatomical entity phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "blood cell phenotype",
+ "manual digit 1 phalanx",
+ "limb bone",
+ "mesoderm-derived structure",
+ "Abnormality of limb bone",
+ "multicellular organism phenotype",
+ "Muscle weakness",
+ "ear phenotype",
+ "neuron projection bundle phenotype",
+ "decreased number of material anatomical entity",
+ "hematopoietic system phenotype",
+ "manual digit 1 or 5",
"number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
+ "head",
+ "platelet",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "digit plus metapodial segment",
+ "immune system",
+ "skeletal muscle organ, vertebrate",
+ "paired limb/fin segment phenotype",
+ "entity",
+ "limb segment phenotype",
+ "decreased length of digit",
+ "myeloblast",
+ "decreased number of anatomical structure",
+ "Abnormality of blood and blood-forming tissues",
+ "Phenotypic abnormality",
+ "autopod region",
+ "craniocervical region musculature",
+ "anatomical collection",
+ "skeletal element phenotype",
+ "All",
+ "organ",
+ "decreased height of the anatomical entity",
"regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
+ "multicellular organism morphology phenotype",
+ "cranial or facial muscle",
+ "serotonin secreting cell",
+ "multicellular organism",
+ "sense organ phenotype",
+ "homeostatic process phenotype",
+ "cranial nerve",
+ "bone element",
+ "decreased qualitatively biological_process",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "multicellular anatomical structure",
+ "biogenic amine secreting cell",
+ "taxon specific phenotype",
+ "forelimb phenotype",
+ "biological regulation phenotype",
+ "anatomical entity height phenotype",
+ "hematopoietic cell",
+ "negative regulation of cellular process",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "phalanx",
+ "number of platelet phenotype",
+ "Abnormality of the hand",
+ "autopod bone",
+ "organ system subdivision",
+ "skeleton of limb phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal appendicular skeleton morphology",
+ "nervous system physiology phenotype",
+ "eukaryotic cell",
+ "musculature of face",
+ "musculature",
+ "decreased qualitatively multicellular organismal process",
+ "musculoskeletal system",
+ "sensory system phenotype",
+ "decreased number of platelet",
+ "decreased length of digit 1",
+ "skeletal element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "blood cell",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "decreased number of anatomical entity",
+ "biological_process rate phenotype",
+ "decreased number of hematopoietic cell",
+ "precursor cell",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "material entity",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal seventh cranial physiology",
+ "nucleate cell",
+ "musculature phenotype",
+ "anatomical entity",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "bone marrow",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "Chromosome breakage",
+ "secretory cell",
+ "autopodial skeleton",
+ "tissue",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "continuant",
+ "Abnormal limb bone morphology",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 11,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0013565",
+ "id": "MONDO:0009213",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
+ "name": "Fanconi anemia complementation group C",
"full_name": None,
"deprecated": None,
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
- "xref": ["DOID:0111086", "GARD:15753", "MEDGEN:854017", "NCIT:C125708", "OMIM:614082", "UMLS:C3469527"],
+ "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.",
+ "xref": ["DOID:0111087", "GARD:15168", "MEDGEN:483324", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
"synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G",
+ "FA3",
+ "FACC",
+ "FANCC",
+ "Fanconi Anemia, complementation group type C",
+ "Fanconi anaemia complementation group type C",
+ "Fanconi anemia complementation group C",
+ "Fanconi anemia complementation group type C",
+ "Fanconi anemia, complementation group C",
+ "Fanconi pancytopenia type 3",
+ "Fanconi pancytopenia, type 3",
+ "facc",
],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001017",
"HP:0001875",
- "HP:0002863",
- "HP:0001510",
+ "HP:0000104",
+ "HP:0003974",
+ "HP:0000028",
+ "HP:0001876",
+ "HP:0000325",
+ "HP:0009778",
"HP:0001873",
- "HP:0007565",
+ "HP:0001511",
+ "HP:0001896",
+ "HP:0009777",
"HP:0000568",
- "HP:0001172",
+ "HP:0001518",
+ "HP:0011940",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0005528",
+ "HP:0000978",
+ "HP:0009942",
+ "HP:0000953",
"HP:0001903",
- "HP:0003220",
+ "HP:0000957",
+ "HP:0000815",
+ "HP:0001629",
"HP:0001909",
- "HP:0000252",
+ "HP:0000081",
+ "HP:0000085",
+ "HP:0000086",
+ "HP:0001371",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0020073",
+ "HP:0000486",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000286",
],
"has_phenotype_label": [
- "Neutropenia",
- "Myelodysplasia",
- "Growth delay",
+ "Anemic pallor",
+ "Neutropenia",
+ "Renal agenesis",
+ "Absent radius",
+ "Cryptorchidism",
+ "Pancytopenia",
+ "Triangular face",
+ "Short thumb",
"Thrombocytopenia",
- "Multiple cafe-au-lait spots",
+ "Intrauterine growth retardation",
+ "Reticulocytopenia",
+ "Absent thumb",
"Microphthalmia",
- "Abnormal thumb morphology",
+ "Small for gestational age",
+ "Anterior wedging of T12",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bone marrow hypocellularity",
+ "Bruising susceptibility",
+ "Duplication of thumb phalanx",
+ "Hyperpigmentation of the skin",
"Anemia",
- "Abnormality of chromosome stability",
+ "Cafe-au-lait spot",
+ "Hypergonadotropic hypogonadism",
+ "Ventricular septal defect",
"Leukemia",
- "Microcephaly",
+ "Duplicated collecting system",
+ "Horseshoe kidney",
+ "Ectopic kidney",
+ "Flexion contracture",
+ "Short stature",
+ "Hearing impairment",
+ "Hypopigmented macule",
+ "Strabismus",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Epicanthus",
],
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
+ "UPHENO:0001231",
+ "UPHENO:0072402",
+ "UPHENO:0072263",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0001369",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0001147",
+ "UPHENO:0005319",
+ "UPHENO:0072195",
+ "UPHENO:0075878",
+ "UBERON:0012180",
+ "UBERON:0034944",
+ "UPHENO:0003021",
+ "UPHENO:0001134",
+ "UPHENO:0072293",
+ "UPHENO:0076761",
+ "UPHENO:0002643",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0087307",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0032039",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002301",
+ "UPHENO:0072332",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "HP:0000364",
+ "UPHENO:0052161",
+ "HP:0031704",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081440",
+ "UPHENO:0046699",
+ "HP:0003011",
+ "UPHENO:0087888",
+ "UPHENO:0046706",
+ "UPHENO:0076710",
+ "HP:0034392",
+ "UPHENO:0002825",
+ "HP:0001371",
+ "UBERON:0000043",
+ "UPHENO:0046759",
+ "HP:0034430",
+ "UPHENO:0002712",
+ "UPHENO:0002699",
+ "UPHENO:0002698",
+ "UPHENO:0003047",
+ "UBERON:0007846",
+ "HP:0011843",
+ "UPHENO:0002564",
+ "UPHENO:0069218",
+ "UPHENO:0046638",
+ "UPHENO:0046606",
+ "UBERON:0007845",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
+ "HP:0000086",
+ "HP:0000085",
+ "HP:0100261",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UBERON:0000982",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "UPHENO:0033607",
+ "HP:0030680",
+ "UBERON:0005181",
+ "UPHENO:0002531",
+ "UPHENO:0015324",
+ "UPHENO:0004827",
+ "UPHENO:0033560",
+ "UPHENO:0002634",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0005178",
+ "UPHENO:0003815",
+ "UPHENO:0015308",
+ "UBERON:0000948",
+ "UBERON:0004151",
+ "UBERON:0015410",
+ "UBERON:0002099",
+ "UPHENO:0003828",
+ "GO:0006259",
+ "UPHENO:0015281",
+ "UBERON:0000915",
+ "UPHENO:0033604",
+ "UPHENO:0003086",
+ "UPHENO:0075655",
+ "HP:0010438",
+ "UPHENO:0002386",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "HP:0030669",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0004831",
+ "HP:0000135",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0001903",
+ "UPHENO:0054970",
+ "HP:0003549",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0001000",
+ "HP:0000953",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "MPATH:105",
+ "MPATH:603",
+ "HP:0000978",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "HP:0009943",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
+ "UPHENO:0002267",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
+ "UPHENO:0002269",
+ "UPHENO:0003001",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0012141",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "UPHENO:0052694",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0086855",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UPHENO:0002219",
"UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "HP:0001939",
+ "UBERON:0001463",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "UPHENO:0072359",
+ "GO:0050954",
+ "UPHENO:0076744",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0002199",
+ "HP:0003312",
+ "UPHENO:0063722",
+ "UPHENO:0041467",
+ "GO:0048519",
+ "UPHENO:0072414",
+ "UPHENO:0002927",
+ "UBERON:0001130",
+ "UBERON:0011137",
+ "UPHENO:0003038",
+ "UPHENO:0041221",
+ "UBERON:0001075",
+ "UBERON:0015023",
+ "UPHENO:0008743",
+ "UPHENO:0002813",
"HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
+ "HP:0003468",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "UPHENO:0084420",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UPHENO:0080187",
+ "UBERON:0010913",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "UPHENO:0041226",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
+ "UPHENO:3000007",
"UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UPHENO:0053456",
+ "UBERON:0015024",
+ "UPHENO:0002403",
"UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "UBERON:0002082",
+ "HP:0100887",
+ "UPHENO:0046741",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "HP:0001626",
+ "UBERON:0015063",
+ "UPHENO:0086589",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
"UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
+ "UPHENO:0050068",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "HP:0000152",
+ "CL:0000558",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "HP:0011940",
+ "UPHENO:0049966",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0000543",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0075219",
+ "UPHENO:0005597",
+ "UPHENO:0049587",
+ "HP:0000286",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "GO:0040007",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0050106",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "HP:0000929",
+ "UBERON:0010314",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "HP:0001507",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "UBERON:0008001",
+ "HP:0006496",
+ "UPHENO:0085263",
+ "HP:0001873",
+ "HP:0011873",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0000151",
+ "UBERON:0016491",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "UBERON:0005451",
"UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
+ "UPHENO:0087518",
+ "HP:0011805",
+ "HP:0001872",
+ "UBERON:0019221",
+ "UPHENO:0001360",
+ "BFO:0000141",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "MPATH:0",
+ "UPHENO:0002905",
+ "UBERON:0001630",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UBERON:0012354",
+ "GO:0048856",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UPHENO:0088176",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001713",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0041381",
+ "UPHENO:0002733",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "HP:0000234",
+ "UPHENO:0002928",
+ "HP:0001875",
+ "HP:0000325",
+ "GO:0010629",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0046411",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0000541",
+ "UPHENO:0050620",
+ "UPHENO:0003022",
+ "UPHENO:0046426",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "HP:0007364",
+ "HP:0009380",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
"UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
+ "CL:0001035",
+ "GO:0043473",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "GO:0010605",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
+ "UPHENO:0046698",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0000991",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002581",
+ "UPHENO:0002945",
+ "UBERON:0002384",
+ "UPHENO:0076799",
+ "UBERON:0001084",
+ "UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0001303",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "UPHENO:0072345",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005090",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
"UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
"UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "GO:0032502",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0072415",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
"UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
+ "UBERON:0001008",
+ "UPHENO:0076695",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0026181",
+ "MPATH:119",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0033596",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0015277",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
"RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0033565",
+ "UBERON:0002113",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "HP:0001999",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0081511",
"UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
+ "UBERON:0010707",
+ "UPHENO:0002656",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0005025",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UPHENO:0076776",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UPHENO:0076707",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UBERON:0001712",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "HP:0001892",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
"UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
+ "UPHENO:0086866",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "UPHENO:0033590",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
+ "UBERON:0000473",
+ "UPHENO:0079872",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0000481",
+ "CL:0000766",
+ "HP:0000925",
"HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0025845",
"UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UBERON:0015228",
+ "UPHENO:0011566",
+ "UPHENO:0002646",
+ "UPHENO:0087427",
"UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
+ "UPHENO:0001072",
+ "HP:0000079",
+ "UPHENO:0025497",
+ "UBERON:0002412",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
"UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
+ "UBERON:0011823",
+ "UPHENO:0026630",
+ "UBERON:0011582",
"UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0002094",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
"UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
- "UPHENO:0086589",
- "UBERON:0000475",
- "HP:0002715",
- "UPHENO:0077399",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
"HP:0032251",
- "HP:0012733",
- "UPHENO:0063794",
- "CL:0000219",
- "UBERON:0007811",
- "UPHENO:0002976",
- "UPHENO:0080010",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0000957",
- "HP:0002664",
- "UBERON:0002091",
- "UBERON:0004120",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:1",
- "HP:0001000",
- "HP:0012372",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "HP:0000951",
- "UPHENO:0054957",
- "HP:0003220",
- "HP:0002817",
- "HP:0001872",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0004386",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
"UPHENO:0005092",
- "UPHENO:0003049",
- "UPHENO:0003020",
- "HP:0011297",
- "UPHENO:0077391",
- "HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "HP:0007565",
- "UBERON:0005451",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0069161",
- "HP:0001510",
- "UBERON:0002390",
- "BFO:0000040",
- "UPHENO:0002861",
- "UBERON:0002199",
- "UPHENO:0011531",
- "HP:0000001",
- "UBERON:0012354",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UBERON:0011216",
- "HP:0001875",
- "CL:0000458",
- "UPHENO:0004757",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0002866",
- "HP:0001873",
- "UPHENO:0080377",
- "UBERON:0010314",
- "HP:0002813",
- "GO:0043473",
- "UBERON:0002193",
- "HP:0001574",
- "HP:0000929",
- "UBERON:0004121",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UBERON:0000020",
+ "HP:0012210",
+ "UPHENO:0003227",
+ "UPHENO:0004507",
"UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "UPHENO:0080662",
- "UPHENO:0003514",
- "HP:0011355",
- "UBERON:0011249",
- "UPHENO:0076739",
- "HP:0012130",
- "HP:0000953",
- "UPHENO:0003811",
- "UPHENO:0006894",
- "UPHENO:0002548",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "HP:0001629",
"UBERON:0004088",
- "UPHENO:0002635",
- "HP:0001034",
- "UPHENO:0004494",
- "UBERON:0019231",
- "UPHENO:0002926",
- "UPHENO:0001002",
- "UBERON:0004456",
- "UPHENO:0002650",
- "UBERON:0013702",
- "UPHENO:0080209",
- "CL:0000081",
- "UPHENO:0087123",
- "UBERON:0000033",
- "UPHENO:0054970",
- "UPHENO:0005097",
- "HP:0000234",
- "HP:0008056",
- "UBERON:0001444",
- "UBERON:0000970",
- "UPHENO:0068914",
+ "HP:0011729",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "GO:0010558",
+ "HP:0020073",
+ "UPHENO:0069605",
+ "UBERON:0003037",
+ "UBERON:0002100",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0085371",
"HP:0011893",
+ "HP:0002813",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "CL:0000219",
"UPHENO:0086633",
- "UPHENO:0003001",
- "UBERON:0002104",
- "UBERON:0001463",
- "UPHENO:0080079",
- "UBERON:0004375",
+ "UPHENO:0025585",
+ "UPHENO:0008668",
+ "UPHENO:0072255",
"BFO:0000001",
- "UBERON:0010230",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0086176",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UPHENO:0069007",
+ "UBERON:0002416",
+ "CL:0000081",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0000315",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "HP:0001881",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
"UPHENO:0086016",
- "UPHENO:0075219",
- "HP:0000478",
- "HP:0000568",
- "UPHENO:0002536",
- "UBERON:0000153",
- "UPHENO:0002733",
- "UBERON:0011676",
- "UBERON:0015061",
- "UBERON:0013701",
- "UPHENO:0075195",
- "UBERON:0001456",
- "UBERON:0000955",
- "UPHENO:3000007",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "UPHENO:0011531",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "HP:0010987",
+ "UPHENO:0009163",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
"UBERON:0004381",
- "UBERON:0015212",
- "UBERON:0010758",
- "UPHENO:0087472",
- "UPHENO:0069327",
- "HP:0100887",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0087924",
- "UPHENO:0002844",
- "HP:0011875",
- "UPHENO:0002928",
- "UPHENO:0003082",
- "UPHENO:0087907",
- "GO:0005623",
- "HP:0002863",
- "UPHENO:0003025",
- "UPHENO:0069064",
- "UPHENO:0069523",
- "UPHENO:0069062",
- "HP:0011844",
- "HP:0025354",
- "UBERON:0001032",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:3000003",
- "UPHENO:0002905",
- "HP:0011842",
- "UPHENO:0069266",
+ "UPHENO:0053330",
+ "CL:0000255",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UBERON:0011216",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0008422",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0077391",
+ "UPHENO:0026108",
+ "UPHENO:0072266",
+ "UPHENO:0026486",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0007275",
+ "HP:0011276",
+ "UBERON:0000489",
+ "UPHENO:0003811",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "BFO:0000002",
+ "UPHENO:0076692",
+ "UPHENO:0086854",
+ "UBERON:0000468",
+ "UPHENO:0002548",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UBERON:0001062",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "HP:0100542",
+ "UPHENO:0041838",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "HP:0000818",
+ "HP:0001017",
+ "CL:0000988",
+ "UPHENO:0002526",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0026507",
+ "UPHENO:0004064",
+ "GO:0050896",
"UPHENO:0002731",
- "CL:0000329",
- "UPHENO:0002782",
- "UBERON:0010708",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0004708",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:5002389",
- "UPHENO:0076724",
- "UPHENO:0076723",
- "UPHENO:0004476",
- "HP:0025461",
- "UPHENO:0002600",
- "UBERON:5002544",
- "UBERON:0011582",
- "UBERON:0002544",
- "UBERON:0002416",
- "HP:0001172",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "HP:0009115",
+ "MPATH:120",
+ "UBERON:0010000",
+ "UBERON:0000467",
],
"has_phenotype_closure_label": [
- "nervous system",
+ "skin of face",
+ "head or neck skin",
+ "zone of organ",
+ "ocular adnexa phenotype",
+ "skin of head morphology phenotype",
+ "increased size of the material anatomical entity",
+ "increased size of the zone of skin",
+ "eyelid phenotype",
+ "Abnormality of the ocular adnexa",
+ "increased size of the zone of organ",
+ "zone of skin morphology phenotype",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "Abnormal eyelid morphology",
+ "increased length of the skin of head",
+ "ocular adnexa",
+ "increased length of the anatomical entity",
+ "response to stress phenotype",
+ "zone of skin",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "increased size of the multicellular anatomical structure",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "behavior",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
+ "Hypopigmented macule",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "tendon",
+ "regular connective tissue",
+ "decreased length of dense regular connective tissue",
+ "articulation",
+ "decreased size of the connective tissue",
+ "dense connective tissue phenotype",
+ "Abnormal skeletal muscle morphology",
+ "muscle organ",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "Abnormal musculoskeletal physiology",
+ "response to stimulus",
+ "muscle structure",
+ "muscle organ morphology phenotype",
+ "Joint contracture",
+ "decreased size of the tissue",
+ "decreased length of tissue",
+ "skeletal joint",
+ "Abnormal joint physiology",
+ "tissue phenotype",
+ "dense regular connective tissue phenotype",
+ "Abnormality of joint mobility",
+ "nucleobase-containing compound metabolic process phenotype",
+ "Abnormality of connective tissue",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "eyelid morphology phenotype",
+ "Ectopic kidney",
+ "increased length of the multicellular anatomical structure",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "interventricular septum",
+ "incomplete closing of the interventricular septum",
+ "cardiac ventricle phenotype",
+ "opening of the anatomical entity",
+ "Abnormal ventricular septum morphology",
+ "incomplete closing of the anatomical entity",
+ "thoracic segment of trunk",
+ "cardiac ventricle morphology phenotype",
+ "organ part",
+ "Ventricular septal defect",
+ "material anatomical entity morphology in the heart phenotype",
+ "Abnormal cardiovascular system morphology",
+ "cardiac chamber",
+ "heart",
+ "heart morphology phenotype",
+ "cardiac chamber phenotype",
+ "anatomical structure morphology in the heart phenotype",
+ "increased length of the skin of face",
+ "thoracic cavity element",
+ "Abnormal cardiac ventricle morphology",
+ "circulatory organ",
+ "viscus",
+ "cardiovascular system morphology phenotype",
+ "thoracic cavity element phenotype",
+ "incomplete closing of the material anatomical entity",
+ "interventricular septum morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "Irregular hyperpigmentation",
+ "Anemia",
+ "Hyperpigmentation of the skin",
+ "increased length of the anatomical structure",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormality of skin pigmentation",
+ "increased qualitatively biological_process",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "vasculature",
+ "Abnormality of the cardiovascular system",
+ "circulatory system",
+ "circulatory disorder",
+ "Abnormal bleeding",
+ "hemorrhage and non-specified extravasation",
+ "Subcutaneous hemorrhage",
+ "Vascular skin abnormality",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "vascular system",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "Generalized abnormality of skin",
+ "circulatory system phenotype",
+ "cardiovascular system phenotype",
+ "Bone marrow hypocellularity",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "biological_process phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "dense regular connective tissue",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "skin of eyelid",
+ "manual digitopodium bone",
+ "phalanx",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "multi organ part structure phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
"Abnormality of the nervous system",
- "brain morphology phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "forebrain",
+ "organ part phenotype",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "tendon phenotype",
+ "Abnormal cardiac septum morphology",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "multi organ part structure",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "Epicanthus",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Flexion contracture",
+ "lateral structure phenotype",
+ "Abnormal vertebral morphology",
+ "vertebral element",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "triangular anatomical entity",
+ "location of anatomical entity phenotype",
"Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "vertebra morphology phenotype",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "bony vertebral centrum",
+ "Anterior wedging of T12",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "cuneate anatomical entity",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "shape of continuant phenotype",
+ "multicellular organism development",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "pathological phenotype observation",
+ "Abnormality of the eye",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "irregular bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "anatomical structure physiology phenotype",
+ "orbital region phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "decreased embryo development",
+ "Intrauterine growth retardation",
+ "decreased multicellular organismal process",
+ "process",
+ "incomplete closing of the anatomical structure",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "hematopoietic system",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "developmental process rate phenotype",
+ "growth phenotype",
+ "increased size of the anatomical structure",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased qualitatively biological_process",
+ "vertebra",
+ "biological_process rate phenotype",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "decreased length of connective tissue",
+ "bony vertebral centrum morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "absent organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "decreased length of organism subdivision",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "Growth delay",
+ "segment of manus",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "decreased length of tendon",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "primary circulatory organ phenotype",
+ "decreased anatomical structure development",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "increased length of the ectoderm-derived structure",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased number of platelet",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased length of manual digit 1",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "craniofacial/craniocervical phenotype",
+ "Triangular face",
+ "absent kidney",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "craniocervical region phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "Abnormal conjugate eye movement",
+ "Abnormal facial shape",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "vertebral element phenotype",
+ "tissue",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "increased length of the head or neck skin",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
"skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "regular connective tissue phenotype",
+ "Abnormal reproductive system morphology",
+ "Abnormal cellular phenotype",
"Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
- "metabolic process",
- "homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "number of platelet phenotype",
+ "developmental process phenotype",
+ "cardiovascular system",
+ "male reproductive system",
+ "granulocyte morphology phenotype",
+ "absent lateral structure",
+ "localised gonad",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "Abnormal external genitalia",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "Abnormal granulocyte morphology",
+ "limb segment",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "vasculature phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "regional part of nervous system",
+ "vertebral column morphology phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
+ "musculature of body",
+ "musculature of body phenotype",
+ "shape of vertebra phenotype",
"limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
+ "bone of free limb or fin phenotype",
+ "anatomical structure development phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "cardiac septum morphology phenotype",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "increased length of the epicanthal fold",
+ "anatomical structure development",
+ "dense connective tissue",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "primary circulatory organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "viscus phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "Abnormality of the male genitalia",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "vertebral centrum element",
+ "limb segment phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
"limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormal heart morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "skin of head",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
"paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
+ "irregular bone phenotype",
+ "increased length of the zone of skin",
+ "absent limb long bone in the forelimb",
+ "cardiac septum phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
"Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "musculoskeletal system physiology phenotype",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "absent anatomical entity in the skeletal system",
+ "embryo development",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "skeleton phenotype",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "thoracic segment organ",
+ "decreased biological_process",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
"subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "connective tissue phenotype",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
"endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
- "Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
- "ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
- "musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
"limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
"number of cell phenotype",
- "Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
- "process",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "muscle structure phenotype",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "root",
+ "decreased qualitatively developmental process",
+ "Abnormal tendon morphology",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "epicanthal fold",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
"serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
+ "incomplete closing of the septum",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "superficial fascia",
+ "material anatomical entity",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
"Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
- "sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
- "musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "embryo development rate phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "muscle organ phenotype",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
+ "cellular organisms",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "compound organ",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "upper eyelid",
"subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
- "Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "erythrocyte",
+ "zone of organ phenotype",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "Hearing abnormality",
+ "Abnormal form of the vertebral bodies",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
- "Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
+ "skull",
+ "decreased length of regular connective tissue",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "increased length of the material anatomical entity",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "excretory system",
+ "renal system morphology phenotype",
"eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "decreased length of dense connective tissue",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
"upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "connective tissue",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "absent anatomical entity",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "immune system",
+ "cuneate vertebra",
+ "Abnormal skin morphology",
+ "decreased number of leukocyte",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "entity",
+ "Abnormal ocular adnexa morphology",
+ "tendon morphology phenotype",
+ "arm bone",
"anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
- "material anatomical entity",
- "subdivision of skeletal system",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "cell",
+ "paired limb/fin skeleton phenotype",
+ "decreased number of anatomical structure",
+ "oxygen accumulating cell",
+ "bone of appendage girdle complex phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "external male genitalia",
"number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
+ "mesoderm-derived structure",
+ "Vertebral wedging",
"disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
- "decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
- "manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "renal system",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "incomplete closing of the cardiac septum",
+ "Abnormal granulocyte count",
+ "Abnormality of the musculature",
+ "nucleate cell",
+ "decreased qualitatively multicellular organismal process",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "decreased multicellular organism development",
+ "ecchymosis",
+ "compound organ phenotype",
+ "regulation of biological process",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "motile cell",
+ "regulation of gene expression",
+ "pigmentation",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
- "size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
- "appendicular skeletal system",
+ "decreased qualitatively system process",
+ "decreased qualitatively embryo development",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "embryo development phenotype",
+ "Abnormality of the genitourinary system",
+ "cardiac septum",
"skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
- "integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "brain phenotype",
+ "circulatory organ phenotype",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "shape anatomical entity",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin segment",
+ "sensory system phenotype",
"ectoderm-derived structure phenotype",
- "skeleton",
+ "abdominal segment of trunk",
+ "nervous system physiology phenotype",
+ "Cryptorchidism",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "septum phenotype",
+ "Abnormal forearm morphology",
+ "anatomical system phenotype",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "cardiac ventricle",
+ "Abnormality of the integument",
+ "regional part of brain phenotype",
+ "organ",
+ "limb phenotype",
"organ phenotype",
- "Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "2-D shape anatomical entity",
+ "integumental system",
+ "Abnormal neutrophil count",
+ "anatomical entity",
+ "decreased number of anatomical entity",
+ "manual digit 1 plus metapodial segment",
"organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
- "entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
+ "neutrophil phenotype",
+ "absent abdominal segment element in the renal system",
+ "regulation of macromolecule metabolic process phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "abdomen element phenotype",
+ "integumental system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "appendicular skeletal system",
+ "Renal hypoplasia/aplasia",
"head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype",
+ "Abnormal male external genitalia morphology",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "continuant",
+ "Abnormality of metabolism/homeostasis",
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 39,
"highlight": None,
"score": None,
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0013566",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group L",
"full_name": None,
"deprecated": None,
- "description": None,
- "xref": ["DOID:0060978", "MEDGEN:1621245", "OMIM:617784", "UMLS:C4521564"],
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.",
+ "xref": ["DOID:0111082", "GARD:15754", "MEDGEN:854018", "OMIM:614083", "UMLS:C3469528"],
"provided_by": "phenio_nodes",
"in_taxon": None,
"in_taxon_label": None,
"symbol": None,
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "synonym": [
+ "FANCL",
+ "FANCL Fanconi anaemia",
+ "FANCL Fanconi anemia",
+ "Fanconi Anemia, complementation Group 50",
+ "Fanconi Anemia, complementation group type 50",
+ "Fanconi anaemia caused by mutation in FANCL",
+ "Fanconi anaemia complementation group type L",
+ "Fanconi anemia caused by mutation in FANCL",
+ "Fanconi anemia complementation group L",
+ "Fanconi anemia complementation group type L",
+ "Fanconi anemia, complementation group L",
+ ],
"uri": None,
"iri": None,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0002247",
- "HP:0002984",
- "HP:0002863",
+ "HP:0001776",
+ "HP:0000369",
+ "HP:0000347",
+ "HP:0003974",
+ "HP:0000465",
+ "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0002119",
"HP:0009777",
- "HP:0001748",
- "HP:0000824",
- "HP:0002518",
- "HP:0002308",
- "HP:0031689",
- "HP:0011800",
+ "HP:0009892",
+ "HP:0004590",
+ "HP:0000151",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0002032",
+ "HP:0011968",
+ "HP:0001321",
+ "HP:0000175",
+ "HP:0000054",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0000437",
+ "HP:0000316",
+ "HP:0040012",
+ "HP:0008551",
+ "HP:0001903",
+ "HP:0000957",
+ "HP:0000122",
+ "HP:0002023",
+ "HP:0002188",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
"HP:0000089",
- "HP:0000252",
- "HP:0410049",
],
"has_phenotype_label": [
- "Duodenal atresia",
- "Hypoplasia of the radius",
- "Myelodysplasia",
+ "Bilateral talipes equinovarus",
+ "Low-set ears",
+ "Micrognathia",
+ "Absent radius",
+ "Webbed neck",
+ "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Ventriculomegaly",
"Absent thumb",
- "Polysplenia",
- "Decreased response to growth hormone stimulation test",
- "Abnormal periventricular white matter morphology",
- "Chiari malformation",
- "Megakaryocyte dysplasia",
- "Midface retrusion",
+ "Anotia",
+ "Hypoplastic sacrum",
+ "Aplasia of the uterus",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Esophageal atresia",
+ "Feeding difficulties",
+ "Cerebellar hypoplasia",
+ "Cleft palate",
+ "Micropenis",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Depressed nasal tip",
+ "Hypertelorism",
+ "Chromosome breakage",
+ "Microtia",
+ "Anemia",
+ "Cafe-au-lait spot",
+ "Unilateral renal agenesis",
+ "Anal atresia",
+ "Delayed CNS myelination",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
"Renal hypoplasia",
- "Microcephaly",
- "Abnormal radial ray morphology",
],
"has_phenotype_closure": [
- "HP:0410049",
- "UBERON:0003129",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "HP:0009121",
- "UBERON:0002090",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011143",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
+ "HP:0030669",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
+ "GO:0007272",
+ "UPHENO:0000553",
+ "UPHENO:0050121",
+ "GO:0022010",
+ "UPHENO:0000555",
+ "HP:0002188",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
+ "UPHENO:0050379",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
+ "HP:0008678",
+ "UBERON:0001008",
+ "UPHENO:0009011",
+ "UPHENO:0011559",
+ "UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
+ "UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
+ "HP:0000077",
+ "UPHENO:0002803",
"UPHENO:3000004",
- "UPHENO:0087427",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "UPHENO:0075902",
+ "UPHENO:0002909",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
+ "HP:0000953",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
+ "UPHENO:3000007",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0001570",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
"UPHENO:0002754",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0087907",
- "UPHENO:0002928",
- "UPHENO:0086589",
- "UPHENO:0081786",
- "UPHENO:0087472",
- "HP:0011800",
- "UPHENO:3000000",
- "HP:0000271",
- "HP:0000234",
- "UBERON:0000033",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
+ "UBERON:0000167",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
+ "UBERON:0001716",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
"UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
"UBERON:0000479",
- "UPHENO:0088145",
- "CL:0000556",
- "CL:0002092",
- "HP:0012143",
- "CL:0001035",
- "CL:0000988",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
+ "UPHENO:0087349",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
"HP:0025354",
- "HP:0002308",
- "UPHENO:0071315",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0071335",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
+ "UBERON:0000474",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
+ "UPHENO:0002839",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
+ "UBERON:0003828",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
+ "UPHENO:0080196",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
+ "HP:0000001",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
+ "UPHENO:0026984",
+ "UPHENO:0002715",
+ "UBERON:0004247",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
"UPHENO:0075948",
- "HP:0001317",
- "UBERON:0004733",
- "HP:0002438",
- "UPHENO:0003459",
- "UPHENO:0071325",
- "UPHENO:0081601",
- "UPHENO:0071317",
- "HP:0011282",
- "UBERON:0002028",
- "UPHENO:0002765",
- "UBERON:0001869",
- "UPHENO:0003030",
- "UPHENO:0074036",
- "UBERON:0019261",
- "UPHENO:0002834",
- "HP:0007367",
- "UPHENO:0073898",
- "HP:0002180",
- "HP:0002352",
- "UPHENO:0074038",
- "UPHENO:0081562",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0003001",
- "UPHENO:0089366",
- "UPHENO:0073911",
- "HP:0002518",
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0000007",
- "GO:0009914",
- "GO:0046903",
- "GO:0071705",
- "UBERON:0005162",
- "UPHENO:0003055",
- "UPHENO:0053274",
- "UPHENO:0082875",
- "NCBITaxon:2759",
- "UBERON:0000179",
- "GO:0032940",
- "GO:0007267",
- "UPHENO:0083689",
- "UPHENO:0049647",
- "UPHENO:0002523",
- "UPHENO:0053121",
- "UBERON:0005156",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:0002642",
- "UPHENO:0002529",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0052554",
- "HP:0010935",
- "UBERON:0002316",
- "UPHENO:0075772",
- "UPHENO:0081628",
- "UPHENO:0053234",
- "UPHENO:0050064",
- "UPHENO:0005571",
- "UPHENO:0073937",
- "UPHENO:0005470",
- "UPHENO:0052678",
- "UPHENO:0005590",
- "UPHENO:0005534",
- "UPHENO:0083952",
- "UPHENO:0053013",
- "UPHENO:0077890",
- "UPHENO:0052714",
- "UPHENO:0049724",
- "UPHENO:0074037",
- "UBERON:0002368",
- "UPHENO:0050014",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "HP:0032367",
- "UPHENO:0052226",
- "HP:0000089",
- "UPHENO:0049871",
- "UPHENO:0002685",
- "GO:0002790",
- "UBERON:0003296",
- "UBERON:0002616",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
"UPHENO:0050065",
- "UPHENO:0005602",
- "UPHENO:0050581",
- "UPHENO:0002621",
- "UPHENO:0004618",
- "UPHENO:0052518",
- "UBERON:0001894",
- "UPHENO:0052867",
- "UBERON:0000481",
- "HP:0010662",
- "UPHENO:0049829",
- "UBERON:0000949",
- "GO:0065008",
- "UPHENO:0005506",
- "UPHENO:0005570",
- "UPHENO:0080588",
- "UBERON:0010314",
- "UPHENO:0005458",
- "UPHENO:0005552",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0100547",
- "UBERON:0002530",
- "UPHENO:0087376",
- "UPHENO:0052354",
- "GO:0015833",
- "UPHENO:0005441",
- "GO:0065007",
- "GO:0009987",
- "UPHENO:0052715",
- "UPHENO:0077889",
- "HP:0000824",
- "UBERON:0000454",
- "UPHENO:0052245",
- "UPHENO:0076957",
- "UPHENO:0078743",
- "HP:0031073",
- "HP:0000830",
- "UPHENO:0005504",
- "UBERON:0000990",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "HP:0002977",
- "UPHENO:0002553",
- "UPHENO:0003004",
- "UPHENO:0088065",
- "NCBITaxon:33154",
- "GO:0030072",
- "UBERON:0003937",
- "UBERON:0004089",
- "UBERON:0003133",
- "HP:0010993",
- "UBERON:0001890",
- "UBERON:0004092",
- "GO:0050789",
- "GO:0051234",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
- "UPHENO:0003065",
- "UPHENO:0002637",
- "UBERON:0002495",
- "UPHENO:0073978",
- "HP:0040075",
- "HP:0002984",
- "UPHENO:0002559",
+ "HP:0002795",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
+ "HP:0025668",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
"CL:0000000",
- "UPHENO:0074310",
- "UPHENO:0003227",
- "UPHENO:0002859",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
"UPHENO:0008548",
- "HP:0011314",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0005573",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0003410",
+ "HP:5200263",
+ "HP:0000202",
"UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011024",
- "UPHENO:0069327",
- "HP:0045060",
- "UBERON:0001434",
- "HP:0000078",
- "UBERON:0015212",
- "UBERON:0004381",
- "UBERON:0005173",
- "UBERON:0000383",
- "UPHENO:0012308",
- "UPHENO:0075195",
- "UPHENO:0002538",
- "UBERON:0010740",
- "UPHENO:0071339",
- "UPHENO:0002596",
- "UPHENO:0068898",
- "UPHENO:0052180",
- "UPHENO:0001360",
- "CHEBI:24431",
- "UBERON:0019231",
- "UPHENO:0052937",
- "UPHENO:0046538",
- "UPHENO:0087339",
- "UPHENO:0003936",
- "HP:0009826",
- "UPHENO:0074054",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
"GO:0008150",
- "UBERON:0001895",
- "UPHENO:0049890",
- "UPHENO:0056077",
- "UBERON:0010538",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0002678",
- "UPHENO:0046552",
- "UPHENO:0074237",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
"HP:0025031",
- "UPHENO:0076727",
- "UPHENO:0081091",
- "UPHENO:0003095",
- "UBERON:0010323",
- "UPHENO:0011609",
- "UPHENO:0005426",
- "UPHENO:0081435",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UPHENO:0046540",
- "UBERON:0008962",
- "UPHENO:0009209",
- "UPHENO:0053355",
- "UBERON:0015001",
+ "HP:5200241",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
+ "UPHENO:0005106",
+ "HP:0000130",
+ "UPHENO:0081511",
+ "UPHENO:0002755",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
+ "UBERON:0004175",
"UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UPHENO:0002267",
- "UPHENO:0049894",
- "UBERON:0002386",
- "UPHENO:0014322",
- "UPHENO:0005611",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "HP:0000864",
- "UBERON:0011249",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0004122",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
"UPHENO:0002976",
- "HP:0009601",
- "UPHENO:0074028",
- "UPHENO:0002594",
- "HP:0009815",
- "HP:0003026",
- "UPHENO:0069163",
- "UBERON:0000025",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0046455",
- "UPHENO:0004523",
- "HP:0040195",
- "GO:0046879",
- "UBERON:0004710",
- "UPHENO:0002896",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0011216",
- "UPHENO:0046484",
- "UPHENO:0077887",
- "UPHENO:0002861",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
"UBERON:0008785",
- "UPHENO:0076718",
- "UPHENO:0081227",
- "UPHENO:0049927",
- "UBERON:0011584",
- "GO:0010817",
- "UPHENO:0068912",
- "UBERON:0015061",
- "UPHENO:0087516",
- "UBERON:5002544",
- "UPHENO:0046479",
- "UPHENO:0002650",
- "UPHENO:0002531",
- "UPHENO:0063629",
- "UPHENO:0002808",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
"UPHENO:0076779",
- "UPHENO:0087940",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0063569",
- "UPHENO:0046460",
- "HP:0009115",
- "UBERON:0000465",
- "UBERON:0002204",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "UPHENO:0025195",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
"UPHENO:0027017",
- "UPHENO:0087531",
- "HP:0040068",
- "UPHENO:0002659",
- "UPHENO:0005230",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0052160",
- "UPHENO:0063615",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0003812",
- "UPHENO:0074311",
- "UPHENO:0056047",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "GO:0030252",
- "UBERON:0001555",
- "UPHENO:0000543",
- "UPHENO:0002719",
- "UBERON:0003460",
- "UPHENO:0005652",
- "HP:0040064",
- "HP:0002119",
- "UPHENO:0004518",
- "HP:0001748",
- "UPHENO:0075944",
- "UPHENO:0002994",
- "UPHENO:0074051",
- "UPHENO:0076735",
- "UBERON:0002113",
- "UPHENO:0086735",
- "UPHENO:0063639",
- "UBERON:0003947",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
- "UPHENO:0011559",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0088047",
- "UBERON:0004732",
- "HP:0002817",
- "HP:0002589",
- "UPHENO:0009146",
- "UPHENO:0014333",
- "UBERON:0003103",
- "UPHENO:0003952",
+ "NCBITaxon:2759",
+ "UBERON:0004756",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
"UBERON:0005409",
- "UBERON:0002544",
- "UPHENO:0086633",
- "UPHENO:0074229",
- "UPHENO:0069194",
- "HP:0000929",
- "UPHENO:0071344",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0011670",
- "UBERON:0005881",
- "HP:0001626",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
+ "UPHENO:0011548",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0086956",
- "UBERON:0002114",
- "UPHENO:0002988",
- "UPHENO:0004802",
- "UBERON:0010708",
- "HP:0002247",
- "UPHENO:0025587",
- "HP:0008678",
- "UBERON:0015021",
- "UBERON:0005057",
- "UBERON:0000467",
- "UBERON:0001893",
- "UPHENO:0068839",
- "UPHENO:0011563",
- "UBERON:0001009",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UPHENO:0076703",
- "UBERON:0013765",
- "UPHENO:0002530",
- "UBERON:0000075",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0003087",
- "UBERON:0001007",
- "UBERON:0002108",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0011747",
- "UPHENO:0069030",
- "UPHENO:0002750",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "HP:0002246",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "HP:0002813",
"BFO:0000002",
"UPHENO:0063563",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0049966",
- "HP:0005922",
- "UPHENO:0079872",
- "UBERON:0002428",
- "UBERON:0002100",
- "UBERON:0001015",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
+ "UPHENO:0063603",
"UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
"UPHENO:0003460",
- "BFO:0000001",
- "GO:0040007",
- "HP:0000818",
- "UPHENO:0063575",
- "UBERON:0010707",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "UPHENO:0004507",
- "UPHENO:0005542",
- "UPHENO:0087349",
- "UPHENO:0002803",
- "UBERON:0001474",
- "UBERON:0010000",
- "HP:0009821",
- "HP:0033127",
- "UBERON:0000063",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "UPHENO:0002833",
- "GO:0032502",
- "HP:0000924",
- "UPHENO:0074228",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0001001",
- "UPHENO:0049733",
- "UPHENO:0002526",
- "UPHENO:0046505",
- "UPHENO:0001440",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
"BFO:0000040",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UBERON:0002193",
- "HP:0011283",
- "UPHENO:0068838",
- "UPHENO:0081594",
- "UBERON:0000062",
- "UPHENO:9002003",
- "UPHENO:0014302",
- "GO:0007154",
- "UBERON:0004111",
- "UPHENO:0074330",
- "UPHENO:0005597",
- "UPHENO:0004476",
- "UBERON:0011215",
- "UBERON:0011299",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UBERON:0010741",
- "UPHENO:0076783",
- "UBERON:0011582",
- "UPHENO:0052178",
- "HP:0002242",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "HP:0000118",
- "UBERON:0006314",
- "UPHENO:0046445",
- "UPHENO:0084771",
- "UPHENO:0046483",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0046392",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0000955",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "GO:0023061",
- "UPHENO:0074335",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0069047",
- "UBERON:0002437",
- "UPHENO:0075175",
- "HP:0000152",
"UPHENO:0002785",
- "UPHENO:0003514",
+ "UBERON:0007811",
+ "HP:0045060",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
"HP:0006496",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0086932",
- "UBERON:0015204",
- "UBERON:0000061",
- "HP:0005561",
+ "UPHENO:0002967",
+ "HP:0100886",
+ "UPHENO:0002964",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
+ "UPHENO:0080089",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
"UBERON:0000026",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0011931",
- "UPHENO:0069292",
- "UBERON:0003466",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0000477",
- "UBERON:0003544",
- "UPHENO:0012274",
- "UBERON:0005281",
- "UPHENO:0026181",
- "UPHENO:0002593",
- "UPHENO:0076790",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0031071",
- "HP:0000001",
- "UPHENO:0076720",
- "UPHENO:0080220",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0002841",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0005434",
- "UPHENO:0046403",
- "UBERON:0012475",
- "HP:0011842",
- "PATO:0000001",
- "UPHENO:0083951",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
"UPHENO:0079876",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069064",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0002964",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0011572",
- "HP:0002863",
- "UPHENO:0069062",
- "HP:0002973",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0068932",
- "UPHENO:0002764",
- "HP:0003117",
- "UBERON:0000160",
- "UPHENO:0011536",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
"UPHENO:0002586",
- "UPHENO:0001340",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UBERON:0000463",
- "HP:0004377",
- "HP:0011793",
- "UPHENO:0002725",
- "UPHENO:0026010",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0033612",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
+ "UPHENO:0014351",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
+ "UBERON:0006983",
+ "UBERON:0003463",
"UBERON:0011137",
- "UBERON:0004535",
- "UBERON:0002390",
- "HP:0001510",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0005120",
- "HP:0001871",
- "UPHENO:0014335",
- "UPHENO:0002905",
- "UBERON:0002196",
- "UPHENO:0080325",
- "HP:0002664",
- "UPHENO:0063565",
- "HP:0012503",
- "HP:0001507",
- "UPHENO:0000541",
- "BFO:0000015",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0002049",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
+ "UPHENO:0072200",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
"UBERON:0009569",
- "UPHENO:0049874",
- "BFO:0000003",
- "UPHENO:0049691",
- "HP:0009799",
- "UPHENO:0071310",
- "GO:0051179",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
"UPHENO:0080377",
- "GO:0007275",
- "UPHENO:0014285",
- "UPHENO:0002792",
- "UBERON:0012139",
- "GO:0006810",
- "UPHENO:0025507",
- "UPHENO:0081466",
- "UPHENO:0080393",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "UPHENO:0002873",
- "UPHENO:0080382",
- "UPHENO:0053456",
- "UBERON:0005944",
- "GO:0048856",
- "UPHENO:0052694",
- "HP:0001511",
- "UPHENO:0068971",
- "UPHENO:0005647",
- "UBERON:0004921",
- "UPHENO:0053330",
- "HP:0011100",
- "UPHENO:0005433",
- "UPHENO:0050068",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
"UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UPHENO:0003116",
- "UPHENO:0005642",
- "UPHENO:0050106",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0005540",
- "UPHENO:0081598",
- "UBERON:0004086",
- "HP:0006501",
- "UPHENO:0050034",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
+ "HP:0001776",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
"HP:0002118",
- "HP:0012639",
- "UPHENO:0076791",
- "UPHENO:0001134",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0004521",
- "HP:0000240",
- "UBERON:0005358",
- "HP:0031072",
- "HP:0002011",
- "HP:0009824",
- "UPHENO:0004956",
- "GO:0009790",
- "UPHENO:0004788",
- "UPHENO:0076805",
- "UPHENO:0073886",
- "HP:0000707",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UBERON:0005282",
- "UPHENO:0001072",
- "UPHENO:0081210",
- "UPHENO:0002548",
- "UPHENO:0002987",
- "HP:0031689",
- "UPHENO:0001025",
- "HP:0007364",
- "HP:0012443",
- "UBERON:0004177",
- "UPHENO:0001147",
- "UPHENO:0005029",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0074245",
- "UPHENO:0001355",
- "UBERON:0004923",
- "UPHENO:0056134",
- "UPHENO:0011498",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UPHENO:0086700",
- "UBERON:0002101",
- "HP:0002012",
- "UBERON:0006048",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:0049813",
- "HP:0006265",
- "UPHENO:0014291",
- "UPHENO:0084761",
- "UBERON:0012140",
- "UPHENO:0002708",
- "GO:0042886",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "HP:0005773",
- "UPHENO:0002733",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0003082",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
"UPHENO:0008668",
- "HP:0000079",
- "UPHENO:0081451",
- "CL:0000763",
- "UPHENO:0001004",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UBERON:0006558",
- "UPHENO:0075998",
- "UPHENO:0026146",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
"UBERON:5002389",
- "GO:0032501",
- "UBERON:0007798",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UBERON:0034925",
- "UPHENO:0002819",
- "UPHENO:0080114",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
"UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005427",
- "UPHENO:0026640",
"UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002037",
- "UBERON:0002389",
- "UPHENO:0025585",
- "UPHENO:0003093",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
"UPHENO:0026643",
- "HP:0011297",
- "UPHENO:0014347",
- "UPHENO:0014325",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0014351",
- "UPHENO:0002661",
- "UBERON:0002465",
- "UBERON:0002417",
- "UPHENO:0014319",
- "UPHENO:0003088",
- "HP:0001743",
- "UBERON:0002106",
- "UPHENO:0087267",
- "HP:0025408",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UPHENO:0014240",
- "UBERON:0000064",
- "UPHENO:0075774",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0087123",
- "UPHENO:0076702",
- "HP:0100763",
- "UPHENO:0056059",
- "UPHENO:0002576",
- "GO:0023052",
- "HP:0001172",
- "UPHENO:0002969",
- "HP:0002715",
- "UPHENO:0011533",
- "UBERON:0013701",
- "UPHENO:0086172",
- "UPHENO:0002874",
- "UBERON:0034923",
- "UPHENO:0002948",
- "UPHENO:0014332",
- "UPHENO:0014287",
- "HP:0025033",
- "UPHENO:0011558",
- "HP:0002597",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0017672",
- "UPHENO:0004004",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0014244",
- "HP:0011844",
- "UPHENO:0075995",
- "UPHENO:0050121",
- "HP:0002060",
- "UPHENO:0003016",
- "UPHENO:0076812",
- "UPHENO:0005477",
- "GO:0140352",
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708",
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
"kidney hypoplasia",
- "renal system morphology phenotype",
- "kidney",
- "kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
+ "decreased length of neck",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
+ "decreased size of the anatomical entity",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
+ "ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
+ "central nervous system myelination phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
+ "nervous system development",
+ "myelination",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
+ "oligodendrocyte differentiation",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
+ "anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "absent multicellular anatomical structure in the renal system",
+ "absent abdomen element in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
+ "absent material anatomical entity in the renal system",
+ "absent cavitated compound organ",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
+ "absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
+ "abdomen element phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "skin of body",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
+ "Abnormal erythrocyte morphology",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
+ "increased size of the non-material anatomical boundary",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
+ "flat anatomical entity",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
+ "anatomical wall",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
+ "secondary palate",
+ "oral cavity",
+ "orifice",
+ "Abnormality of the face",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
- "cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
+ "midface phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
"organ subunit",
- "malformed anatomical entity",
- "Chiari malformation",
- "cerebellum phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
"Abnormal hindbrain morphology",
- "formed multi-tissue structure",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
+ "decreased anatomical structure development",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
"segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
+ "homeostatic process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the digestive system",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
+ "anatomical entity atresia",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
+ "tube",
+ "thoracic cavity element",
"genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
+ "Delayed myelination",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
"reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
- "material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
"cellular process",
- "Abnormal pituitary gland morphology",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
+ "skeletal element phenotype",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
"upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
- "reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
- "hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
- "multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
"craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
+ "absent trunk region element in the multicellular organism",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
+ "bone of jaw",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
+ "subdivision of trunk",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "dermal skeletal element phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
+ "negative regulation of cellular process",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
+ "Abnormal neck morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
+ "anatomical entity morphology in the manus phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "absent digit",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
+ "neurogenesis",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
+ "system process",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
+ "Abnormal tracheal morphology",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
+ "cognitive behavior",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
+ "closing of the material anatomical entity",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "pectoral appendage",
"trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
"bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
- "process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
- "long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
"absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
- "decreased size of the mesoderm-derived structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
"zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
- "absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
- "decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
- "head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
- "skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "Abnormal small intestine morphology",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
"aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
- "decreased length of anatomical entity",
- "alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
- "forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
- "intestine morphology phenotype",
- "skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
- "material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
- "skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
"digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
- "forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
- "musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
- "continuant",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
+ "increased size of the anatomical entity",
"anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "delayed axon ensheathment",
+ "anatomical line",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
"forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
"closing of the anatomical structure",
- "limb phenotype",
- "nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
- "skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
+ "multi-limb segment region",
"multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
+ "external male genitalia hypoplasia",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
+ "Absent radius",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
+ "forelimb long bone",
+ "radius bone",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "pigmentation",
"limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
- "pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
- "subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
+ "pectoral appendage phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
"segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
- "Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
"biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
- "aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
"Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
- "decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
"digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
"postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
- "endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
- "decreased size of the limb endochondral element",
- "anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
"musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
"skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
+ "Abnormal axial skeleton morphology",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
"aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
"aplasia or hypoplasia of skeleton",
- "decreased cellular process",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "alimentary part of gastrointestinal system phenotype",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
"subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
"subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
- "delayed biological_process",
- "hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
- "growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "increased length of the anatomical line between pupils",
+ "Craniofacial cleft",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
- "ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
+ "primary subdivision of cranial skeletal system",
+ "absent endochondral bone",
+ "limb long bone",
+ "dermal skeleton",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
"absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
"forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
- "peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
"head",
- "digit",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
"manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
+ "organism subdivision",
+ "organ subunit phenotype",
+ "Abnormal brain morphology",
"autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
- "non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
- "Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
"anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion",
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
+ "intramembranous bone",
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 36,
"highlight": None,
"score": None,
},
diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py
index 39821bd1a..1ae44dbfc 100644
--- a/backend/tests/fixtures/search_response.py
+++ b/backend/tests/fixtures/search_response.py
@@ -22,7 +22,7 @@ def search_response():
},
},
"response": {
- "num_found": 122,
+ "num_found": 128,
"start": 0,
"docs": [
{
@@ -115,7 +115,6 @@ def search_response():
"HP:0000568",
"HP:0000520",
"HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
@@ -166,6 +165,7 @@ def search_response():
"HP:0001172",
"HP:0001053",
"HP:0001000",
+ "HP:0000508",
],
"has_phenotype_label": [
"Duodenal stenosis",
@@ -223,7 +223,6 @@ def search_response():
"Microphthalmia",
"Proptosis",
"Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
@@ -274,4005 +273,3860 @@ def search_response():
"Abnormal thumb morphology",
"Hypopigmented skin patches",
"Abnormality of skin pigmentation",
+ "Ptosis",
],
"has_phenotype_count": 106,
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
"UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
+ "CL:0000233",
+ "CL:0000225",
"HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
"HP:0001881",
"UPHENO:0063722",
- "UPHENO:0085410",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
"UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
"HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
+ "HP:0001939",
"UPHENO:0075159",
+ "UPHENO:0080351",
"HP:0004322",
- "GO:0034101",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
"HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
"HP:0001903",
"GO:0030218",
+ "GO:0030097",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
"UPHENO:0080187",
"HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
+ "HP:0006501",
+ "HP:0007364",
+ "HP:0000252",
"UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
+ "HP:0000240",
+ "GO:0050890",
"HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
"HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0046487",
"UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
"UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
"UPHENO:0052965",
+ "UPHENO:0002599",
"UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
"UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
+ "CL:0000015",
+ "CL:0000408",
"UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
"UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
"UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
"UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
"UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
"UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
"UBERON:0001333",
- "UBERON:0000056",
"UBERON:0036295",
- "UPHENO:0002806",
"UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
"HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
"UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
"HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
"HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
"UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
+ "UPHENO:0033587",
"UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
+ "UPHENO:0063515",
"UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
"UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
"UPHENO:0014240",
- "HP:0010987",
"UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
"HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
"UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
"UPHENO:0072332",
"UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
"UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
"UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
"HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
"UPHENO:0080087",
- "UPHENO:0005437",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
"UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
+ "UPHENO:0005513",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
"UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
"UBERON:0005726",
- "UPHENO:0005071",
+ "UPHENO:0005230",
+ "UBERON:0000004",
"HP:0005105",
"UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
"UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
"UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
"UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
"UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
+ "UPHENO:0004621",
"UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
"HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
"UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
+ "HP:0000520",
+ "UBERON:0003840",
"UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
"UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
"UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
"UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
"UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
"UPHENO:0075995",
- "UBERON:0005897",
"UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
"UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
"HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
"UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
"UPHENO:0049622",
"NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
+ "UPHENO:0002941",
"NBO:0000403",
- "UPHENO:0049699",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
"UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
"UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
"UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
"UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
"UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
"HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
"UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
"UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
"UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
"UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
+ "HP:0011994",
+ "UPHENO:0086857",
"UBERON:0002081",
- "UPHENO:0075208",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
"HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
+ "UBERON:0000473",
+ "HP:0011545",
"UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
"UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
"UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
"UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
"UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
"UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
"UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
+ "UPHENO:0002948",
+ "HP:0000347",
+ "UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
"UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
+ "HP:0000365",
"UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
+ "HP:0000478",
"UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
"UPHENO:0086866",
"UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
"UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
+ "HP:0004348",
+ "UPHENO:0046465",
"UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
"UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
"UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
"UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
+ "GO:0009888",
+ "UPHENO:0041041",
"UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
"HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
+ "UPHENO:0078347",
"HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
"UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
+ "GO:0007605",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
"HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
+ "HP:0002683",
"UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
"UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
+ "UPHENO:0049904",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
"UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
"UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
"UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
"UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
"UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
"UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
+ "UPHENO:0080300",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
"HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
"UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
"UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
+ "HP:0012443",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
"UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
"UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
"UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
+ "HP:0000366",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
"UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
+ "UBERON:0001890",
+ "UBERON:0019221",
+ "UBERON:0012141",
"HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
"UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
+ "UPHENO:0001025",
+ "UPHENO:0002952",
"UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
+ "UPHENO:0002903",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
+ "HP:0033127",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
"UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
+ "HP:0002060",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
+ "HP:0000957",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
+ "UPHENO:0081424",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
"UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
+ "UBERON:0002204",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
+ "UBERON:0004122",
+ "UPHENO:0002635",
+ "UBERON:0000173",
"UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
+ "UPHENO:0003811",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
"UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
"BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
+ "GO:0043473",
+ "UPHENO:0002585",
+ "UPHENO:0004064",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
+ "UBERON:0002416",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
"UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
"UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
"UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
"UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
+ "UBERON:0003129",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
"UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
+ "UBERON:0010758",
+ "UBERON:0001486",
+ "UPHENO:0002949",
"HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
+ "UBERON:0000467",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
"UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
"HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
+ "UBERON:0017672",
"HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
"UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
"UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UBERON:0000064",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
+ "UPHENO:0077391",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
"HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
+ "UPHENO:0084734",
+ "UPHENO:0049699",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
+ "UBERON:0000165",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
"UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
+ "UPHENO:0069327",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
+ "UPHENO:0002816",
+ "UPHENO:0002553",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
"UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
+ "HP:0000172",
+ "UPHENO:0002659",
"UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0005058",
+ "HP:0033353",
+ "UPHENO:0002732",
"UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
+ "UBERON:0011595",
+ "UBERON:0002553",
+ "UBERON:0002514",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
+ "UBERON:0001444",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
+ "HP:0000035",
+ "HP:0011842",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
+ "UPHENO:0002909",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
"UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
- "UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
- "HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
+ "HP:0010866",
+ "UPHENO:0015277",
+ "UBERON:0000025",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
"UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
- "UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
- "UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
"HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
"UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
+ "HP:0000119",
"UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
+ "UBERON:0010741",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
+ "HP:0001871",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
"UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
+ "UPHENO:0069047",
+ "UPHENO:0014971",
+ "UPHENO:0002964",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
+ "UBERON:0005893",
+ "UPHENO:0003413",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
+ "HP:0100790",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
+ "UPHENO:0003050",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
+ "UBERON:0002113",
+ "UBERON:0013702",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
+ "UBERON:0010000",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
+ "UBERON:5102389",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
+ "UBERON:0000475",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
+ "UPHENO:0075902",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
"HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
+ "UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
+ "UPHENO:0046505",
+ "UPHENO:0002859",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
+ "UPHENO:0002926",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
+ "GO:0048729",
+ "GO:0019953",
+ "UPHENO:0018390",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
+ "UPHENO:0002976",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
+ "UPHENO:0003049",
+ "UBERON:0004921",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
"UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
+ "UBERON:0002102",
+ "HP:0000277",
+ "UPHENO:0087006",
+ "GO:0003008",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
+ "UPHENO:0049874",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
"UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
+ "HP:0100542",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
"UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
+ "UPHENO:0069030",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
"RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UPHENO:0053632",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
+ "UBERON:0015212",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
+ "UBERON:0010538",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
+ "UBERON:0000062",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
+ "HP:0000079",
+ "UBERON:0012358",
+ "UPHENO:0003432",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
+ "UPHENO:0076703",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
+ "UPHENO:0041821",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
"UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002803",
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518",
],
"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
"Hypopigmented skin patches",
"serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
"decreased number of material anatomical entity in the multicellular organism",
"decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
"nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
"Abnormal immune system morphology",
"number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
+ "decreased number of anatomical structure",
"Abnormal leukocyte morphology",
- "homeostatic process phenotype",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
"Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
"decreased height of the multicellular organism",
"multicellular organism height phenotype",
"decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
"Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
+ "erythroid lineage cell morphology phenotype",
"blood cell phenotype",
- "bone cell",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "blood cell",
+ "erythrocyte differentiation",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
+ "radius bone",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormal cerebral morphology",
+ "size of skull phenotype",
"Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
"cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
"Scoliosis",
"Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
"size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
+ "decreased size of the orifice",
+ "immune system",
"immune system phenotype",
+ "cellular developmental process",
"Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
"absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
"absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
"absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
"male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
"localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
+ "localised gonad",
"male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
"urethra phenotype",
- "Abnormality of thrombocytes",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
"urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
"Abnormal ureter morphology",
- "Abnormality of the ureter",
"Hydroureter",
"excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
"Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
"abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
"reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
"incomplete closing of the ectoderm-derived structure",
"incomplete closing of the neural crest-derived structure",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
+ "incomplete closing of the secondary palate",
"increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
"increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
"increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "cerebrospinal fluid",
"cerebrospinal fluid phenotype",
"increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
"number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
"increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
"number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
"increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
"number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
"increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
"increased length of the anatomical structure",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
"anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
+ "aplasia or hypoplasia of radius bone",
"non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
"dentary",
- "dentary phenotype",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
"jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
"decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
"sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
"olfactory system",
"chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
+ "shape anatomical entity",
"naris atresia",
- "internal naris",
"naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
"cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
"neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
+ "incomplete closing of the organ",
"multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
"structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
+ "decreased sensory perception of sound",
"asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
"decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
+ "skeleton of limb phenotype",
+ "sensory perception",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
"opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
"lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
+ "anatomical entity height phenotype",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
"transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
"protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
"eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
"palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
"cranial nerve related reflex",
- "internal ear",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
"Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
+ "camera-type eye",
"Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
"internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
"female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
"bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
"hypothalamus-pituitary axis",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
"manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
"phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
"nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
"gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
+ "multi organ part structure phenotype",
+ "gland",
"decreased developmental process",
- "male gamete",
+ "decreased qualitatively anatomical structure development",
"multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
"Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
"umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
"Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
"amniotic fluid",
- "amniotic fluid phenotype",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
"organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
"organism substance",
+ "late embryo phenotype",
"Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
"late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
"incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "cardiac septum morphology phenotype",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
"Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "orbital region phenotype",
+ "layer of muscle tissue",
"decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
"decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
+ "heart layer morphology phenotype",
"heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
"organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
+ "decreased functionality of the organ part",
"myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
"mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
"incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
"conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
"incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
"anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
+ "uterus morphology phenotype",
"valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
+ "anatomical structure",
"heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
"left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
+ "Abnormality of the immune system",
"circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
"thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
"great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
"longitudinal arch of pes",
- "decreased number of anatomical structure",
"flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
"fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
"Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
"anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
+ "Growth abnormality",
+ "organ subunit",
"forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
+ "Abnormality of the ocular adnexa",
+ "tetrapod frontal bone morphology phenotype",
"limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
"increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
"dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
"cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
+ "olfactory organ phenotype",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
+ "increased size of the material anatomical entity",
+ "Abnormal brain morphology",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
+ "brain morphology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "increased size of the ectoderm-derived structure",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
"increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
"epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
"tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
+ "Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
"intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
"femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Neoplasm by anatomical site",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
"deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
+ "decreased size of the ectoderm-derived structure",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
"circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
"decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
"pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
"ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
+ "abdomen element physiology phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
+ "decreased size of the bone element",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
+ "Abnormality of thrombocytes",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
+ "axial skeleton plus cranial skeleton",
+ "Clinodactyly of the 5th finger",
"endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
+ "lower jaw region",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
"musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
"multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
"abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
"All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
"manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
+ "external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "homeostatic process",
+ "zone of skin morphology phenotype",
"autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
+ "musculoskeletal system phenotype",
+ "biological_process phenotype",
"anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "eyelid",
+ "sloped anatomical entity",
"decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
"Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
+ "multi-limb segment region phenotype",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
"skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
"skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
"biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
"developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
+ "arterial system",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
"multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
+ "abdominal segment element phenotype",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
"Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
+ "digit 5 plus metapodial segment",
+ "multicellular organism phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
"subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
+ "Abnormality of the upper limb",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
+ "shape digit",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
"Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
+ "localised testis",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "leukocyte",
+ "Finger syndactyly",
"decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
+ "Abnormality of the testis size",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
+ "Abnormality of the skin",
+ "nervous system",
+ "secretory cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
"Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
+ "abdomen",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
+ "forelimb endochondral element",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "localised material anatomical entity",
+ "decreased length of endochondral bone",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
"tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
+ "Abnormal forearm morphology",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
"pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
+ "arm bone phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
+ "decreased length of anatomical structure",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
"Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
+ "renal system",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
+ "deviation of manual digit 5",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
"articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
"incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
+ "musculature phenotype",
+ "forelimb zeugopod bone",
"opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
+ "renal system phenotype",
+ "multicellular anatomical structure phenotype",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
+ "intromittent organ phenotype",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
+ "compound organ phenotype",
+ "anatomical structure mass phenotype",
+ "appendicular skeleton",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
"parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
+ "Abnormality of the hand",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
+ "Abnormal shape of the frontal region",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
"tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
"central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
+ "Sloping forehead",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
"anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
+ "tube phenotype",
+ "forelimb skeleton",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
+ "hemopoiesis",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
+ "abdominal segment element",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
+ "limb",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
+ "trunk phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
+ "Decreased fertility in males",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
+ "anatomical conduit phenotype",
+ "Abnormal foot morphology",
+ "digestive system element",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "mesoderm-derived structure phenotype",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
+ "growth",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
+ "aplasia or hypoplasia of skull",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
+ "organ",
+ "pedal digit bone",
+ "autopod endochondral element",
+ "trunk region element",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
+ "mesoderm-derived structure",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
+ "skeletal joint dislocation",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
+ "nervous system cell part layer",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal enteric nervous system morphology",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
"Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
+ "homeostatic process phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
+ "neural tube",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
+ "embryo phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
+ "decreased size of the anatomical structure",
+ "Abnormal nasal morphology",
+ "Abnormality of the cardiovascular system",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
+ "alimentary part of gastrointestinal system",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
+ "pes bone",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
+ "Abnormality of the upper urinary tract",
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
"Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere",
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype",
],
},
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "description": "Fanconi syndrome that occurs in dog.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIA:000366-9615"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
{
"id": "MONDO:0007600",
"category": "biolink:Disease",
@@ -4346,1121 +4200,1061 @@ def search_response():
],
"has_phenotype_count": 29,
"has_phenotype_closure": [
+ "UPHENO:0051900",
"HP:0000117",
- "UPHENO:0000541",
+ "HP:0001510",
+ "HP:0025745",
+ "CHEBI:33709",
"UPHENO:0051739",
- "HP:0040156",
+ "HP:0002909",
"UPHENO:0068144",
- "UPHENO:0068491",
- "HP:0012072",
"UPHENO:0046286",
- "CHEBI:33839",
- "HP:0020129",
+ "HP:0003076",
+ "UPHENO:0080658",
+ "UPHENO:0068054",
"CHEBI:15841",
- "HP:0000093",
- "HP:0003126",
- "HP:0001992",
"CHEBI:33256",
- "CHEBI:37622",
+ "HP:0020129",
"UPHENO:0051608",
"UPHENO:0068024",
- "UPHENO:0051714",
- "CHEBI:17544",
+ "HP:0003149",
+ "HP:0011279",
"UPHENO:0051619",
+ "HP:6000531",
+ "HP:0003646",
+ "UPHENO:0051714",
+ "HP:0033354",
+ "UPHENO:0066964",
+ "UPHENO:0003941",
+ "UPHENO:0066925",
"CHEBI:35604",
- "UPHENO:0024906",
- "CHEBI:16541",
+ "HP:0001947",
+ "UPHENO:0002248",
+ "UBERON:0006555",
"UPHENO:0004791",
+ "UPHENO:0002210",
+ "UPHENO:0005141",
"UPHENO:0003430",
- "UBERON:0000479",
- "CHEBI:33709",
+ "UPHENO:0051635",
+ "UPHENO:0066943",
"UPHENO:0066960",
- "UPHENO:0066964",
+ "UPHENO:0066950",
+ "UPHENO:0066954",
"UBERON:0009773",
"UBERON:0007684",
- "UPHENO:0066927",
+ "UBERON:0004211",
+ "UBERON:0000483",
"UPHENO:0066913",
"UPHENO:0002564",
- "UPHENO:0066951",
- "UBERON:0006555",
- "UPHENO:0003381",
- "UPHENO:0005201",
+ "UBERON:0001285",
+ "UPHENO:0002311",
+ "UPHENO:0002287",
+ "UBERON:0003914",
"UBERON:0004819",
- "UPHENO:0066946",
"HP:0004910",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0000483",
- "UPHENO:0003941",
+ "UPHENO:0005285",
+ "HP:0000124",
"HP:0004360",
- "HP:0001942",
- "HP:0001941",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0003011",
+ "UPHENO:0002252",
+ "UBERON:0001630",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
"UPHENO:0003047",
+ "UPHENO:0024906",
"HP:0011804",
- "UBERON:0005090",
- "HP:0001824",
- "UPHENO:0010799",
- "HP:0001995",
- "UPHENO:0010795",
- "GO:0040007",
+ "HP:0001324",
+ "UPHENO:0054374",
+ "UPHENO:0054304",
"UPHENO:0054315",
+ "UPHENO:0010850",
+ "HP:0004323",
+ "UPHENO:0010795",
+ "UPHENO:0049874",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "HP:0001507",
+ "HP:0012531",
"HP:0002653",
- "CHEBI:36914",
+ "UPHENO:0081440",
+ "HP:0002659",
+ "HP:0002749",
+ "UPHENO:0068491",
+ "CHEBI:24835",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
+ "UPHENO:0034199",
+ "UPHENO:0002246",
+ "HP:0003111",
"CHEBI:36915",
- "HP:0010930",
+ "CHEBI:22860",
+ "CHEBI:36916",
+ "BFO:0000002",
"HP:0002900",
- "UPHENO:0089756",
- "UPHENO:0068296",
- "HP:0033354",
+ "CHEBI:36914",
+ "HP:0010929",
"CHEBI:26216",
- "HP:0003081",
- "CHEBI:33674",
- "CHEBI:22563",
- "UPHENO:0005285",
- "GO:0043227",
- "UPHENO:0089739",
- "UPHENO:0084541",
- "HP:0010966",
- "HP:0002909",
- "CHEBI:36586",
- "CHEBI:18059",
- "UPHENO:0082794",
- "CHEBI:64709",
+ "UPHENO:0051849",
"HP:0003287",
- "CHEBI:17126",
+ "HP:0010935",
+ "CHEBI:35605",
+ "CHEBI:16541",
+ "GO:0005622",
+ "UBERON:0000489",
+ "CHEBI:26020",
"GO:0005737",
+ "GO:0043231",
"GO:0043226",
- "HP:0003234",
+ "UPHENO:0077817",
"UPHENO:0034319",
- "UPHENO:0084537",
+ "HP:0012103",
+ "UPHENO:0086172",
+ "HP:0032180",
+ "HP:0012598",
+ "CHEBI:25741",
+ "CHEBI:33521",
+ "CHEBI:27369",
+ "UPHENO:0051628",
+ "UPHENO:0089735",
+ "UPHENO:0051881",
"CHEBI:33608",
- "CHEBI:25696",
- "CHEBI:24651",
+ "HP:0011015",
"CHEBI:33273",
- "CHEBI:25741",
- "HP:0011279",
- "GO:0043231",
- "UPHENO:0051979",
- "CHEBI:24835",
- "GO:0110165",
- "CHEBI:35284",
+ "GO:0005575",
"UPHENO:0046337",
- "UPHENO:0082761",
- "HP:0012531",
- "CHEBI:36587",
- "HP:0012610",
- "CHEBI:51151",
+ "UBERON:0000174",
"CHEBI:35406",
- "GO:0005575",
- "HP:0004359",
- "CHEBI:24833",
- "UPHENO:0051881",
- "CHEBI:26469",
- "HP:0002749",
+ "GO:0005623",
+ "UPHENO:0051777",
+ "CHEBI:17126",
+ "CHEBI:51143",
+ "CHEBI:25384",
+ "CHEBI:83821",
+ "HP:0012599",
+ "CHEBI:28868",
"CHEBI:35281",
- "CHEBI:35366",
"CHEBI:33575",
- "UPHENO:0089745",
- "HP:0002157",
- "UPHENO:0010850",
- "HP:0011843",
- "CHEBI:35605",
- "HP:0004364",
- "UBERON:0001630",
- "HP:0025142",
- "CHEBI:33672",
- "CHEBI:24532",
- "CHEBI:33659",
- "HP:0010932",
- "CHEBI:25810",
+ "GO:0043227",
+ "CHEBI:35757",
+ "UPHENO:0051979",
+ "HP:0003234",
+ "HP:0003119",
+ "CHEBI:33674",
+ "CHEBI:25699",
+ "UPHENO:0068296",
+ "CHEBI:22563",
+ "CHEBI:36358",
+ "HP:0010966",
+ "UPHENO:0081550",
+ "HP:0004359",
+ "HP:0004354",
+ "UPHENO:0077826",
"UPHENO:0068251",
- "UPHENO:0046383",
- "HP:6000531",
- "UPHENO:0051736",
- "CHEBI:72695",
- "CHEBI:35875",
+ "CHEBI:35352",
+ "CHEBI:33671",
+ "HP:0032943",
+ "CHEBI:24532",
+ "HP:0004364",
+ "UPHENO:0000541",
+ "HP:0003081",
"UPHENO:0068442",
- "CHEBI:33655",
+ "UPHENO:0066939",
+ "UPHENO:0089745",
+ "HP:0002157",
"CHEBI:33636",
- "UPHENO:0068064",
+ "CHEBI:33635",
+ "UPHENO:0002636",
"CHEBI:33832",
+ "CHEBI:27226",
+ "HP:0003110",
+ "CHEBI:25810",
+ "CHEBI:35366",
+ "UPHENO:0087433",
+ "CHEBI:35875",
+ "UPHENO:0046283",
"CHEBI:27171",
- "CHEBI:33833",
"CHEBI:38101",
- "UPHENO:0010808",
- "UPHENO:0066781",
- "HP:0002049",
- "CHEBI:24867",
- "CHEBI:37577",
- "UPHENO:0002964",
- "CHEBI:33635",
- "HP:0033127",
- "HP:0025354",
+ "UPHENO:0068134",
+ "CHEBI:33833",
+ "UBERON:0004765",
+ "CHEBI:24870",
+ "UPHENO:0002642",
+ "UPHENO:0034276",
+ "CHEBI:33259",
+ "CHEBI:36357",
"HP:0003330",
- "UBERON:0001434",
+ "HP:0004349",
+ "CHEBI:36587",
+ "CHEBI:33655",
+ "CHEBI:50047",
+ "HP:0000924",
+ "UBERON:0013701",
+ "CHEBI:33302",
+ "HP:0001942",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "UPHENO:0082544",
+ "UPHENO:0082835",
+ "CHEBI:25696",
+ "UPHENO:0002346",
"HP:0011849",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "CHEBI:32988",
+ "HP:0010930",
"HP:0004912",
- "UPHENO:0004459",
- "UPHENO:0050433",
- "UPHENO:0002554",
- "UPHENO:0066921",
- "CHEBI:33304",
- "UPHENO:0066739",
- "CHEBI:33582",
- "HP:0001510",
- "UBERON:0002390",
- "UPHENO:0081440",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "BFO:0000040",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002210",
- "UPHENO:0002783",
- "UPHENO:0002530",
- "CHEBI:27226",
- "HP:0000118",
- "CHEBI:18282",
- "UBERON:0000061",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0005177",
"CHEBI:26082",
- "UBERON:0000062",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "CHEBI:36358",
- "HP:0011280",
- "UPHENO:0002269",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0089764",
- "UBERON:0004122",
- "GO:0042592",
- "CHEBI:27369",
- "UPHENO:0002679",
- "HP:0004918",
- "UPHENO:0049874",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "GO:0043229",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0089770",
+ "GO:0008150",
+ "UPHENO:0068064",
+ "UPHENO:0002559",
+ "CHEBI:36360",
+ "HP:0004348",
+ "CHEBI:24867",
+ "CHEBI:33238",
+ "UPHENO:0066739",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "CHEBI:26708",
+ "HP:0012606",
+ "CHEBI:22314",
+ "HP:0012603",
+ "UPHENO:0002909",
+ "UPHENO:0050619",
+ "HP:0011842",
+ "GO:0065008",
+ "UPHENO:0050064",
+ "GO:0001503",
+ "UPHENO:0051712",
+ "UPHENO:0050065",
+ "HP:0011032",
+ "UPHENO:0003432",
+ "HP:0002049",
+ "UPHENO:0081544",
+ "HP:0010932",
+ "UPHENO:0004503",
+ "CHEBI:33559",
+ "UBERON:0015212",
+ "CHEBI:33318",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "UPHENO:0051686",
+ "UPHENO:0089294",
+ "HP:0002206",
+ "UBERON:0002204",
+ "HP:0002150",
+ "UPHENO:0051766",
+ "HP:0001944",
"UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0068565",
- "CHEBI:25699",
- "CHEBI:33241",
- "UPHENO:0002385",
- "GO:0008152",
- "UPHENO:0082544",
- "CHEBI:22860",
- "UPHENO:0002427",
- "GO:0050878",
- "UPHENO:0084542",
- "CL:0000000",
- "HP:0002748",
- "UPHENO:0076294",
- "CHEBI:24870",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "UPHENO:0068169",
- "BFO:0000002",
- "HP:0004325",
- "HP:0012103",
- "BFO:0000001",
- "UPHENO:0051645",
- "UPHENO:0002949",
- "CHEBI:78616",
- "UPHENO:0054374",
- "GO:0005623",
- "UPHENO:0003025",
- "UPHENO:0066943",
- "HP:0100529",
- "UPHENO:0003088",
- "UPHENO:0048750",
- "HP:0002659",
- "UPHENO:0001002",
- "HP:0003076",
- "HP:0003011",
- "HP:0001324",
- "HP:0001939",
- "UPHENO:0050619",
- "UBERON:0001558",
- "HP:0010996",
- "UPHENO:0089735",
- "CHEBI:33675",
- "HP:0000124",
- "CHEBI:35757",
- "CHEBI:26079",
"CHEBI:22984",
- "HP:0011032",
- "CHEBI:33595",
- "UPHENO:0087433",
- "CHEBI:33302",
- "CHEBI:29067",
- "UPHENO:0046284",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0051849",
- "UBERON:0002100",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "HP:0010967",
+ "UPHENO:0084537",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "HP:0000093",
+ "UPHENO:0046344",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0002816",
+ "CHEBI:51151",
+ "UPHENO:0051709",
+ "UPHENO:0051887",
+ "UPHENO:0068110",
+ "HP:0002795",
+ "HP:0000077",
+ "HP:0011014",
+ "UPHENO:0002386",
+ "CHEBI:26469",
+ "UPHENO:0002360",
+ "HP:0003355",
+ "UPHENO:0049587",
+ "UBERON:0000916",
+ "UBERON:0004122",
+ "HP:0100529",
"HP:0000119",
- "UPHENO:0068054",
- "HP:0010929",
- "HP:0006530",
- "UPHENO:0066954",
+ "CHEBI:33595",
+ "UPHENO:0002422",
+ "UBERON:0005173",
+ "UBERON:0000179",
"HP:0012211",
- "HP:0004348",
- "UPHENO:0002448",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:35352",
+ "UPHENO:0034351",
+ "HP:0012622",
+ "HP:0012610",
+ "UPHENO:0003093",
+ "UPHENO:0005092",
+ "HP:0000118",
"UPHENO:0076286",
- "UBERON:0005181",
+ "UPHENO:0002832",
+ "UPHENO:0046281",
+ "UPHENO:0046284",
"UPHENO:0002803",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "HP:0003149",
- "UPHENO:0054304",
- "CHEBI:60242",
- "GO:0001503",
- "HP:0011013",
- "CHEBI:16646",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051628",
- "UBERON:0011676",
- "CHEBI:26708",
- "GO:0008150",
- "UPHENO:0004503",
- "UBERON:0000383",
- "UBERON:8450002",
- "UPHENO:0051804",
- "UPHENO:0002574",
- "GO:0005622",
- "UPHENO:0006889",
- "HP:0430071",
- "UBERON:0000475",
- "UPHENO:0082835",
- "UPHENO:0003084",
- "UBERON:0002075",
- "UPHENO:0076692",
- "HP:0000001",
- "UPHENO:0068036",
- "UPHENO:0084654",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0050433",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
"UPHENO:0079822",
- "UBERON:0000467",
- "BFO:0000003",
- "UPHENO:0051887",
- "HP:0012598",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0003086",
- "UPHENO:0002536",
- "UBERON:0004119",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0003094",
- "UPHENO:0034276",
- "UPHENO:0002526",
- "CHEBI:36916",
- "UBERON:0005173",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0049628",
- "CHEBI:26401",
- "UBERON:0000178",
- "CHEBI:51143",
- "UPHENO:0046356",
- "HP:0010967",
- "UBERON:0013702",
- "HP:0004323",
+ "CHEBI:36963",
+ "CHEBI:33285",
+ "CHEBI:64709",
"UPHENO:0089737",
- "UPHENO:0084472",
- "HP:0002086",
- "HP:0002206",
- "UPHENO:0076299",
- "UBERON:0005178",
- "CHEBI:18133",
- "CHEBI:36962",
- "GO:0005739",
- "UBERON:0001088",
- "UPHENO:0046281",
- "UBERON:0001062",
- "UPHENO:0002248",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0050064",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UBERON:0001285",
- "UPHENO:0002320",
- "PATO:0000001",
- "HP:0011842",
- "HP:0003646",
- "HP:0032943",
- "UBERON:0001015",
- "UPHENO:0002859",
- "UBERON:0000065",
- "UPHENO:0034199",
- "CHEBI:25806",
- "UBERON:0004111",
- "UPHENO:0077817",
- "UPHENO:0002648",
- "UPHENO:0002422",
- "CHEBI:50860",
- "UPHENO:0051712",
- "HP:0012622",
- "UBERON:0000064",
- "CHEBI:16670",
"UBERON:0000170",
- "HP:0011042",
- "HP:0003537",
- "HP:0011014",
+ "HP:0012591",
"UPHENO:0002525",
- "HP:0032180",
- "BFO:0000004",
- "HP:0011015",
- "UPHENO:0081550",
- "HP:0003110",
- "UBERON:0000072",
- "UPHENO:0002287",
- "BFO:0000020",
- "UBERON:0013701",
- "UPHENO:0002377",
- "UPHENO:0002360",
- "HP:0011017",
- "HP:0002150",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002988",
- "UPHENO:0002634",
- "HP:0031980",
- "UBERON:0000025",
- "HP:0002795",
- "UBERON:0005172",
- "HP:0002088",
- "UPHENO:0051900",
- "HP:0000077",
- "GO:0043229",
- "GO:0032501",
- "CHEBI:24431",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0002252",
- "UPHENO:0086908",
- "GO:0048878",
"CHEBI:33579",
- "UPHENO:0002926",
- "HP:0003774",
- "HP:0001947",
- "HP:0004354",
- "GO:0042593",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:35381",
- "UPHENO:0084653",
- "CHEBI:15693",
- "HP:0001944",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "UPHENO:0002386",
- "HP:0012606",
- "CHEBI:36963",
- "HP:0001871",
- "CHEBI:38166",
- "HP:0001943",
- "UPHENO:0051763",
- "UPHENO:0050791",
- "UPHENO:0080556",
- "GO:0033500",
- "UPHENO:0002442",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "UPHENO:0002909",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004211",
- "CHEBI:33238",
- "UBERON:0002417",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0086908",
+ "BFO:0000040",
"UBERON:0002113",
- "UPHENO:0081544",
- "CHEBI:23367",
- "UPHENO:0075902",
- "UBERON:0003914",
+ "UPHENO:0002532",
+ "UPHENO:0046348",
+ "UPHENO:0048707",
+ "HP:0001939",
+ "HP:0001941",
+ "HP:0002088",
+ "GO:0008152",
+ "UPHENO:0048750",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0089764",
"UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "CHEBI:33671",
- "UPHENO:0003093",
+ "UPHENO:0003084",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "GO:0042592",
+ "CHEBI:33839",
+ "CHEBI:38166",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0006314",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UPHENO:0068565",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0066951",
+ "CHEBI:17234",
+ "CHEBI:35381",
+ "UPHENO:0002426",
+ "CHEBI:16646",
+ "UPHENO:0066781",
+ "UPHENO:0002870",
+ "BFO:0000003",
"HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0076299",
+ "HP:0003126",
+ "UPHENO:0051763",
+ "GO:0110165",
+ "UPHENO:0001002",
+ "UPHENO:0076294",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UPHENO:0068169",
+ "GO:0050878",
+ "UBERON:0013522",
+ "UBERON:0005181",
"UPHENO:0002308",
- "HP:0011277",
- "CHEBI:33318",
+ "UPHENO:0002783",
+ "CHEBI:17544",
+ "CHEBI:33659",
+ "BFO:0000015",
+ "HP:0006530",
+ "HP:0001824",
+ "UPHENO:0002731",
+ "CHEBI:24431",
+ "UBERON:0000065",
+ "HP:0033127",
+ "UBERON:0000072",
"UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0002377",
+ "UPHENO:0084542",
+ "CHEBI:26079",
+ "CHEBI:33917",
+ "HP:0011017",
+ "GO:0040007",
+ "HP:0011280",
+ "UBERON:0000475",
+ "UPHENO:0002448",
+ "UPHENO:0010808",
+ "GO:0005739",
+ "UBERON:0000178",
+ "UBERON:0002417",
+ "GO:0065007",
+ "UBERON:0005090",
+ "HP:0012337",
+ "UBERON:0003103",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UPHENO:0002267",
+ "UBERON:0001558",
+ "UPHENO:0002442",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "CHEBI:78616",
+ "UPHENO:0003413",
+ "UPHENO:0002574",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "HP:0011042",
+ "UBERON:0000062",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0049628",
+ "UPHENO:0006889",
+ "UPHENO:0051960",
+ "HP:0001943",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:16670",
+ "CHEBI:35284",
"UPHENO:0002976",
- "UPHENO:0066903",
+ "CHEBI:24651",
+ "UPHENO:0003086",
+ "UBERON:0001005",
+ "UBERON:0000025",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0046383",
+ "UPHENO:0051645",
+ "UPHENO:0076703",
+ "UBERON:0005177",
+ "CHEBI:36586",
+ "UPHENO:0034253",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "CHEBI:18133",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0084472",
+ "UPHENO:0051736",
+ "UPHENO:0001003",
+ "UBERON:0000465",
+ "UPHENO:0002859",
+ "UBERON:0002075",
+ "HP:0025354",
+ "GO:0048878",
+ "CHEBI:23367",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "CHEBI:33672",
+ "CHEBI:37622",
"UPHENO:0002359",
- "HP:0001507",
- "CHEBI:83821",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UBERON:0002048",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0000383",
"HP:0000079",
- "CHEBI:28868",
- "UBERON:0013522",
- "UPHENO:0002426",
- "UPHENO:0004418",
- "UBERON:0006314",
+ "UPHENO:0050791",
+ "UPHENO:0003025",
+ "UBERON:0013702",
+ "UPHENO:0089739",
+ "CHEBI:25806",
+ "UPHENO:0046356",
+ "UPHENO:0000543",
+ "UBERON:0000463",
+ "CL:0000000",
+ "GO:0042593",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "HP:0430071",
+ "UBERON:0000467",
+ "CHEBI:33582",
+ "UPHENO:0068036",
+ "UPHENO:0003094",
+ "UBERON:0004119",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "CHEBI:29067",
+ "CHEBI:72695",
+ "UPHENO:0004536",
+ "UBERON:0002100",
+ "CHEBI:25367",
+ "UPHENO:0080555",
+ "UPHENO:0082761",
+ "UBERON:0000915",
+ "UBERON:0034925",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0066927",
+ "CHEBI:26401",
"UBERON:0011143",
- "UPHENO:0066925",
- "HP:0012591",
+ "UPHENO:0084541",
+ "CHEBI:60242",
"CHEBI:5686",
- "UPHENO:0004505",
- "UBERON:0002048",
- "UPHENO:0046344",
- "UBERON:0001005",
- "UPHENO:0048707",
- "UPHENO:0002346",
+ "UBERON:0002390",
+ "CHEBI:18282",
+ "UPHENO:0010763",
+ "HP:0000001",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "HP:0011843",
"UPHENO:0002531",
- "CHEBI:33521",
- "UPHENO:0051777",
- "UBERON:0000489",
- "UPHENO:0068110",
- "UPHENO:0002754",
- "UPHENO:0068134",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0051766",
- "CHEBI:33917",
- "CHEBI:22313",
- "UPHENO:0086172",
- "GO:0065007",
- "GO:0065008",
- "HP:0012599",
- "UPHENO:0050065",
- "HP:0012603",
- "UPHENO:0034351",
- "UPHENO:0051709",
- "CHEBI:25384",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0004765",
- "HP:0000924",
- "UBERON:0000465",
- "UBERON:0001008",
- "UBERON:0002204",
- "HP:0003355",
- "CHEBI:36359",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "HP:0003119",
- "CHEBI:36360",
- "UBERON:0010000",
- "UBERON:0000174",
"UBERON:0001474",
- "UPHENO:0066950",
- "UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0066939",
- "UPHENO:0010763",
- "CHEBI:33259",
+ "UPHENO:0004459",
+ "HP:0010996",
+ "CHEBI:24833",
+ "UPHENO:0066903",
+ "UPHENO:0002963",
+ "CHEBI:15693",
+ "HP:0003537",
+ "UPHENO:0002679",
+ "HP:0011277",
+ "GO:0033500",
+ "UPHENO:0002668",
+ "CHEBI:18059",
+ "BFO:0000004",
],
"has_phenotype_closure_label": [
"Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
"Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
+ "Proximal renal tubular acidosis",
"increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
"increased level of carboxylic acid in urine",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "urine amino acid level phenotype",
"Glycosuria",
"increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
+ "peptide",
+ "carboxamide",
+ "increased level of protein polypeptide chain in urine",
+ "amide",
"macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
+ "increased level of uric acid in urine",
+ "Abnormality of urinary uric acid level",
+ "urine uric acid level phenotype",
+ "increased level of hydrogencarbonate in urine",
"hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
+ "urine hydrogencarbonate level phenotype",
+ "carbon oxoanion",
+ "Abnormal urine metabolite level",
+ "Bicarbonaturia",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "decreased functionality of the renal tubule",
"decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
"excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
"decreased functionality of the multicellular anatomical structure",
+ "nephron tubule",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the kidney epithelium",
+ "Renal tubular acidosis",
+ "excretory tube phenotype",
+ "epithelium physiology phenotype",
+ "decreased functionality of the tube",
+ "uriniferous tubule",
+ "nephron epithelium",
"anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "decreased functionality of the anatomical conduit",
"excretory tube",
- "kidney epithelium",
+ "decreased functionality of the epithelial tube",
+ "decreased functionality of the tissue",
"tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
+ "tissue phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the excretory tube",
+ "nephron phenotype",
+ "kidney epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Renal tubular dysfunction",
+ "Abnormality of acid-base homeostasis",
"Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
+ "Hyperchloremic metabolic acidosis",
+ "Abnormal muscle physiology",
"Abnormality of the musculature",
- "muscle organ",
+ "muscle structure",
+ "muscle structure phenotype",
+ "epithelial tube",
"muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Decreased anatomical entity mass",
+ "Generalized aminoaciduria",
"Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
"anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
+ "urine phosphate level phenotype",
"anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
"multicellular organism mass phenotype",
- "Pain",
+ "muscle organ physiology phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "delayed biological_process",
+ "Abnormality of body weight",
+ "Weight loss",
+ "decreased material anatomical entity mass",
"Constitutional symptom",
+ "Bone pain",
"musculoskeletal system physiology phenotype",
"Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
+ "viscus phenotype",
+ "decreased level of potassium atom in blood",
+ "Hypoglycemia",
+ "inorganic molecular entity",
+ "renal/urinary system phenotype",
+ "Hypokalemia",
+ "primary amide",
+ "role blood level phenotype",
"blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
+ "cation",
+ "inorganic ion",
"Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
"potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
+ "organonitrogen heterocyclic compound",
+ "Abnormal urine potassium concentration",
+ "organic anion",
+ "Increased urinary potassium",
+ "lung phenotype",
+ "acid bodily fluid level phenotype",
+ "oxide",
"decreased level of amino-acid betaine",
- "cytoplasm",
+ "decreased functionality of the epithelium",
"amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
+ "carnitine",
+ "carbon group molecular entity",
"amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
+ "abdominal segment element",
+ "ammonium betaine",
"fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
+ "alkaline earth metal atom",
+ "decreased level of carnitine in blood",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "blood carboxylic acid level phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "growth phenotype",
+ "Abnormality of bone mineral density",
"oxoacid",
- "increased level of hydrogencarbonate in urine",
+ "amino acid derivative level phenotype",
+ "cell",
"carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "obsolete cell",
+ "fatty acid level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "organic ion",
+ "Abnormal blood potassium concentration",
+ "glucose",
+ "mitochondrion",
+ "blood monocarboxylic acid level phenotype",
"hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
+ "abdomen",
+ "polyatomic anion",
+ "Renal insufficiency",
+ "Abnormal circulating fatty-acid anion concentration",
+ "Abnormal urine amino acid level",
+ "organic molecule",
+ "decreased level of purines",
+ "blood cation level phenotype",
+ "cellular_component phenotype",
"nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
"organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
- "organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
+ "Abnormal circulating organic compound concentration",
"aromatic compound",
- "decreased anatomical structure mass",
"heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
+ "organic cyclic compound",
+ "cytoplasm",
+ "Abnormal circulating nucleobase concentration",
+ "Low-molecular-weight proteinuria",
+ "monocarboxylic acid",
+ "tube phenotype",
+ "organic heterocyclic compound",
+ "increased level of purines",
+ "skeletal system morphology phenotype",
+ "oxopurine",
+ "organic molecular entity",
+ "intracellular membrane-bounded organelle",
+ "organic heteropolycyclic compound",
+ "Hypouricemia",
+ "nephron",
+ "Abnormal circulating lipid concentration",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "dipolar compound",
+ "nitrogen molecular entity level phenotype",
+ "nephron epithelium phenotype",
+ "molecule",
"blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
+ "organic oxo compound",
+ "decreased role blood level",
"Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
+ "cyclic compound",
+ "blood nucleobase level phenotype",
+ "Abnormality of mitochondrial metabolism",
+ "blood monoatomic ion level phenotype",
+ "skeletal system",
+ "musculature of body phenotype",
"musculoskeletal system phenotype",
- "monoatomic ion",
+ "blood potassium atom level phenotype",
+ "Abnormal bone structure",
+ "musculature",
+ "multicellular organismal process",
+ "abdominal segment element physiology phenotype",
+ "ion",
+ "carboxylic acid anion",
+ "elemental molecular entity",
+ "heteropolycyclic compound",
+ "polyatomic entity",
+ "protein polypeptide chain",
+ "ossification",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "phosphorus molecular entity",
+ "musculature of body",
+ "phosphorus oxoacids and derivatives",
+ "phosphoric acid derivative",
+ "Decreased anatomical entity mass density",
+ "body proper",
+ "lipid level phenotype",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
"monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
+ "increased level of chemical entity",
+ "quaternary nitrogen compound",
+ "Reduced bone mineral density",
+ "Abnormal bone ossification",
+ "blood uric acid level phenotype",
+ "Stage 5 chronic kidney disease",
+ "cellular anatomical structure",
+ "Abnormality of the mitochondrion",
+ "Rickets",
+ "Hypophosphatemic rickets",
+ "pnictogen molecular entity",
+ "Hypophosphatemia",
+ "Decreased bone element mass density",
+ "biological_process",
"Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
+ "Abnormality of the musculoskeletal system",
"anatomical entity mass density phenotype",
- "phosphoric acid derivative",
- "Abnormal circulating nucleobase concentration",
+ "urine glucose level phenotype",
+ "sodium atom level phenotype",
+ "alkali metal atom",
+ "decreased level of chemical entity",
+ "Renal sodium wasting",
+ "sodium atom",
+ "polyatomic ion",
+ "urine sodium atom level phenotype",
+ "intracellular organelle",
+ "Abnormality of fluid regulation",
+ "renal tubule",
+ "decreased level of phosphate in blood",
+ "biological regulation phenotype",
+ "increased level of chemical entity in blood",
+ "decreased functionality of the anatomical entity",
+ "regulation of body fluid levels phenotype",
+ "material anatomical entity mass phenotype",
+ "bodily fluid phenotype",
+ "cellular_component",
+ "organelle",
+ "regulation of biological quality",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "polypeptide",
+ "homeostatic process",
+ "regulation of biological quality phenotype",
+ "skeletal element",
+ "intracellular anatomical structure",
+ "increased level of chemical entity in urine",
+ "abdomen element",
+ "increased level of potassium atom in urine",
+ "increased level of calcium atom in urine",
+ "blood fatty acid level phenotype",
+ "Abnormal urine pH",
+ "Abnormal respiratory system physiology",
+ "excreta",
+ "organic amino compound",
+ "calcium atom level phenotype",
+ "s-block element atom",
+ "membrane-bounded organelle",
+ "blood glucose level phenotype",
+ "urine",
+ "musculoskeletal system",
+ "increased urine role level",
+ "oxoanion",
+ "carbohydrate",
+ "cavitated compound organ phenotype",
+ "Abnormality of urine calcium concentration",
+ "mitochondrion phenotype",
+ "process",
+ "urine calcium atom level phenotype",
+ "Hyperuricosuria",
+ "abdomen element physiology phenotype",
+ "purines",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "Osteomalacia",
+ "polycyclic compound",
+ "upper urinary tract phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormal pulmonary interstitial morphology",
+ "Acidosis",
+ "compound organ physiology phenotype",
+ "Pulmonary fibrosis",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "organism substance phenotype",
+ "organ system subdivision",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "renal system",
+ "Abnormality of the urinary system",
+ "chemical homeostasis phenotype",
+ "phosphate",
+ "excretory system",
+ "Abnormal lung morphology",
+ "skeletal element phenotype",
+ "kidney phenotype",
+ "Abnormality of urine homeostasis",
+ "growth",
+ "organ system subdivision phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "trunk region element physiology phenotype",
+ "thoracic segment organ",
"monosaccharide",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of urine bicarbonate level",
"haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
+ "chemical homeostasis",
+ "role bodily fluid level phenotype",
+ "Abnormal urinary organic compound level",
+ "amino-acid derivative",
+ "cellular process",
+ "renal system physiology phenotype",
+ "urine potassium atom level phenotype",
+ "anatomical structure phenotype",
+ "respiratory tract",
+ "chemical entity level phenotype",
+ "fatty acid",
+ "hydrogen molecular entity",
+ "Azotemia",
+ "subdivision of tube phenotype",
"chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
- "organic molecular entity",
- "Pulmonary fibrosis",
+ "bodily fluid",
+ "bone element mass density phenotype",
+ "regulation of body fluid levels",
"main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
"metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
+ "upper urinary tract",
+ "compound organ phenotype",
+ "amino acid level phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal blood glucose concentration",
+ "abdominal segment element phenotype",
+ "glucose homeostasis",
+ "multicellular organism",
+ "delayed growth",
+ "oxygen molecular entity",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "hematopoietic system phenotype",
+ "decreased muscle organ strength",
+ "glucose homeostasis phenotype",
+ "organochalcogen compound",
+ "viscus",
+ "abdomen element phenotype",
+ "Dehydration",
+ "heteroorganic entity",
+ "organism subdivision",
+ "thoracic segment organ phenotype",
+ "biological regulation",
+ "main group element atom",
+ "Abnormal blood monovalent inorganic cation concentration",
"Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
- "organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
- "nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
+ "heterobicyclic compound",
"phenotypic effect",
- "Abnormality of the genitourinary system",
- "blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
- "Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
- "increased level of chemical entity in blood",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
- "Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
- "Acidosis",
- "phenotype",
- "thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
+ "hexose",
+ "potassium atom",
+ "blood",
+ "lung morphology phenotype",
+ "subdivision of tube",
+ "occurrent",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "muscle organ",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "multicellular organism chemical entity level phenotype",
"haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
+ "blood fatty acid anion level phenotype",
+ "carbohydrate homeostasis",
+ "organism substance",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "p-block molecular entity",
+ "Abnormal cellular physiology",
+ "organic aromatic compound",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
"anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
- "organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
- "subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical collection",
+ "anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "heteroarene",
"atom",
+ "decreased level of uric acid in blood",
+ "lateral structure phenotype",
+ "blood carbohydrate level phenotype",
+ "kidney epithelium",
+ "Pain",
+ "trunk phenotype",
"anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
+ "epithelial tube physiology phenotype",
+ "material entity",
+ "anatomical entity fibrosis",
+ "anatomical system",
+ "organooxygen compound",
+ "trunk",
"multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
+ "independent continuant",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "abdominal segment of trunk",
+ "Bicarbonate-wasting renal tubular acidosis",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
+ "molecular entity",
+ "anion",
+ "Abnormality of the kidney",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "bone element",
+ "calcium atom",
+ "homeostatic process phenotype",
"inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "entity",
- "body proper",
- "respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
+ "Abnormal circulating carnitine concentration",
+ "lung fibrosis",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
"All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "respiratory system",
- "respiratory airway",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "Abnormal respiratory system morphology",
+ "material anatomical entity phenotype",
+ "uric acid",
+ "anatomical entity physiology phenotype",
+ "monovalent inorganic cation",
+ "subdivision of organism along main body axis phenotype",
+ "hydrogencarbonate",
"respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
+ "organ phenotype",
"hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
+ "subdivision of trunk",
+ "organonitrogen compound",
+ "subdivision of organism along main body axis",
+ "entity",
"Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
+ "respiration organ phenotype",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity",
+ "tube physiology phenotype",
+ "Abnormal homeostasis",
"lateral structure physiology phenotype",
+ "blood phosphate level phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic cavity element",
+ "genitourinary system",
+ "thoracic segment of trunk",
+ "Growth abnormality",
+ "phosphate level phenotype",
+ "Hypercalciuria",
+ "cell phenotype",
+ "taxon specific phenotype",
+ "respiratory system",
+ "Abnormal cellular phenotype",
+ "lipid",
+ "respiratory airway",
+ "Renal phosphate wasting",
+ "lung",
+ "pair of lungs",
+ "lower respiratory tract",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "endoderm-derived structure",
+ "material anatomical entity physiology phenotype",
"decreased level of chemical entity in blood",
+ "organ part phenotype",
+ "organ part",
+ "lateral structure",
+ "renal system phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "main body axis",
+ "Proteinuria",
"Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
+ "bicyclic compound",
+ "trunk region element",
+ "Abnormality of the upper urinary tract",
+ "thoracic cavity element phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "oxoacid derivative",
"Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "urine calcium atom level phenotype",
- "organochalcogen compound",
- "subdivision of trunk",
+ "nephron tubule phenotype",
+ "organic acid",
+ "anatomical conduit",
+ "imidazopyrimidine",
+ "anatomical entity morphology in the respiratory system phenotype",
"metal atom",
- "Stage 5 chronic kidney disease",
- "increased level of calcium atom in urine",
- "Hypokalemia",
- "Hypercalciuria",
- "respiratory system morphology phenotype",
- "increased level of chemical entity",
- "Abnormality of fluid regulation",
- "amide",
- "Abnormality of urine bicarbonate level",
+ "aldose",
+ "genitourinary system phenotype",
+ "urine organic anion level phenotype",
+ "respiration organ",
"phosphorus oxoacid derivative",
- "regulation of biological quality",
- "urine",
- "biological regulation phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "ammonium betaine",
- "sodium atom",
- "alkali metal atom",
- "phosphate level phenotype",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "Abnormality of urinary uric acid level",
- "Bicarbonaturia",
- "decreased level of chemical entity",
- "Abnormal bone structure",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "organic aromatic compound",
- "elemental molecular entity",
- "blood uric acid level phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "Organic aciduria",
- "membrane-bounded organelle",
- "blood phosphate level phenotype",
- "blood phenotype",
- "multicellular organismal process",
- "organelle",
- "skeletal system phenotype",
- ],
- },
- {
- "id": "MONDO:0060779",
- "category": "biolink:Disease",
- "name": "acquired Fanconi syndrome",
- "description": "Fanconi Syndrome caused by exposure to noxious agents.",
- "provided_by": "phenio_nodes",
- "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
- "synonym": ["acquired Fanconi syndrome"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "provided_by": "phenio_nodes",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624",
- ],
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome",
+ "increased level of glucose in urine",
+ "continuant",
+ "anatomical system phenotype",
+ "organ",
+ "multicellular anatomical structure phenotype",
+ "compound organ",
+ "Metabolic acidosis",
+ "tube",
+ "multicellular anatomical structure mass phenotype",
+ "onium betaine",
+ "endoderm-derived structure phenotype",
+ "aldohexose",
+ "epithelium",
+ "anatomical collection phenotype",
+ "Abnormal urine sodium concentration",
+ "carbohydrate homeostasis phenotype",
],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
},
{
"id": "MONDO:0009217",
@@ -5488,464 +5282,404 @@ def search_response():
],
"has_phenotype_count": 5,
"has_phenotype_closure": [
- "UPHENO:0002635",
- "HP:0002664",
"UPHENO:0003811",
- "HP:0007606",
- "UBERON:0004121",
- "HP:0001574",
- "HP:0011947",
- "HP:0032101",
- "HP:0002719",
- "UBERON:0000060",
- "UPHENO:0002757",
- "UPHENO:0004536",
- "UBERON:0000025",
+ "UPHENO:3000003",
+ "UPHENO:0002548",
+ "UBERON:0002199",
+ "HP:0000951",
+ "UPHENO:0002635",
+ "HP:0011793",
"HP:0002205",
+ "UBERON:0005906",
+ "UBERON:0000025",
"UBERON:0003103",
- "UBERON:0004111",
"UBERON:0005177",
- "UBERON:0005906",
- "HP:0002107",
- "UPHENO:0002448",
- "UPHENO:0002531",
- "UPHENO:0002526",
- "UBERON:0009569",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "HP:0002103",
- "UBERON:0005181",
- "UBERON:0000064",
- "UPHENO:0002754",
- "NCBITaxon:33154",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0002548",
- "UBERON:0002100",
- "UBERON:0000915",
"UBERON:0000072",
- "UBERON:0000170",
+ "HP:0002088",
+ "UBERON:0000977",
"UBERON:0000042",
- "UPHENO:0081590",
+ "UBERON:0000077",
+ "HP:0002795",
+ "UPHENO:0081581",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0011676",
+ "UBERON:0000064",
+ "UBERON:0000481",
+ "UPHENO:0003077",
+ "UBERON:0005181",
+ "HP:0002103",
"UBERON:0013702",
- "UBERON:0001004",
- "UBERON:0000065",
+ "UBERON:0002097",
+ "NCBITaxon:33208",
"NCBITaxon:1",
- "UBERON:0004119",
- "UPHENO:0063787",
- "UPHENO:0004064",
+ "UPHENO:0005029",
+ "UPHENO:0081590",
+ "UPHENO:0087433",
+ "HP:0002719",
+ "UBERON:0015212",
+ "UBERON:0002416",
+ "UPHENO:0002731",
+ "NCBITaxon:6072",
+ "HP:0002086",
+ "UBERON:0000170",
+ "HP:0032101",
+ "UBERON:0002100",
+ "UBERON:0000060",
+ "HP:0007606",
+ "HP:0011947",
+ "UBERON:0002075",
+ "UPHENO:0002859",
+ "UBERON:0004111",
+ "NCBITaxon:33154",
+ "UPHENO:0004536",
+ "NCBITaxon:131567",
+ "UPHENO:0002757",
+ "UPHENO:0002668",
+ "HP:0002664",
+ "CL:0001035",
+ "CL:0000232",
+ "GO:0006954",
+ "CL:0000219",
+ "UPHENO:0002531",
+ "HP:0001876",
+ "CL:0000151",
+ "UPHENO:0002554",
+ "UBERON:0001474",
"UBERON:0000062",
+ "UPHENO:0004064",
+ "UBERON:0004119",
"UBERON:0000479",
- "HP:0010987",
- "UBERON:0013701",
- "HP:0005939",
- "HP:0012145",
- "UPHENO:0081581",
- "UBERON:0000077",
- "HP:0001873",
- "UPHENO:0086173",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0076684",
- "UPHENO:0003077",
+ "UBERON:0000915",
+ "UPHENO:0080377",
+ "UBERON:0002405",
"UBERON:0001558",
- "UBERON:0000977",
- "CL:0000458",
- "UPHENO:0074751",
- "HP:0000118",
- "UPHENO:0002976",
- "UPHENO:0049588",
- "UBERON:0002075",
- "UPHENO:0074681",
- "UPHENO:0088166",
- "UPHENO:0085302",
- "UBERON:0000465",
- "HP:0010978",
- "UBERON:0034923",
- "UBERON:0009778",
- "UPHENO:0002948",
"UPHENO:0081440",
- "BFO:0000015",
- "UPHENO:0002525",
- "UPHENO:0001003",
- "UBERON:0011216",
- "HP:0002086",
- "UPHENO:0083263",
- "UPHENO:0074682",
- "HP:0032251",
- "HP:0001876",
- "UPHENO:0002902",
- "UPHENO:0080693",
- "UPHENO:0005092",
- "UBERON:0002204",
- "UBERON:0000383",
- "UBERON:0000481",
- "BFO:0000003",
- "UBERON:0000467",
- "BFO:0000004",
- "HP:0002754",
- "UPHENO:0055024",
- "UPHENO:0077391",
- "UPHENO:0002267",
- "UPHENO:0002949",
- "GO:0006952",
+ "HP:0005561",
+ "UBERON:0000065",
+ "UPHENO:0002964",
+ "UPHENO:0074687",
+ "CL:0000000",
+ "HP:0002715",
+ "UPHENO:0002948",
"GO:0006950",
- "GO:0006954",
- "UPHENO:0080377",
- "UPHENO:0074624",
- "UPHENO:0002731",
- "UPHENO:0049584",
- "HP:0002795",
- "HP:0012649",
- "UBERON:0001015",
- "UPHENO:0002385",
- "HP:0000001",
- "CL:0000329",
"UPHENO:0002988",
- "UPHENO:0086172",
- "UPHENO:0077418",
- "UPHENO:0011531",
- "UPHENO:0087433",
- "HP:0011843",
- "UBERON:0005178",
+ "BFO:0000040",
+ "UPHENO:0074751",
+ "UPHENO:0002267",
+ "CL:0000233",
+ "UBERON:0010000",
+ "CL:0002092",
+ "UPHENO:0049587",
+ "HP:0002754",
+ "UPHENO:0002754",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "CL:0000255",
+ "UBERON:0000061",
"UBERON:0002193",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0002088",
- "UPHENO:0049586",
- "UPHENO:0002536",
- "CL:0000763",
- "BFO:0000020",
- "UPHENO:0002734",
- "UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0034925",
- "BFO:0000001",
+ "UPHENO:0002823",
+ "CL:0000988",
+ "UPHENO:0002269",
+ "NCBITaxon:2759",
+ "BFO:0000015",
+ "UBERON:0001004",
+ "CL:0000764",
"BFO:0000002",
- "HP:0012647",
- "UPHENO:0049587",
- "UBERON:0010000",
"UBERON:0001005",
- "UPHENO:0011498",
- "UPHENO:0080010",
- "CL:0000232",
- "UBERON:0000171",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0054970",
- "UPHENO:0080662",
- "UBERON:0013522",
- "GO:0008150",
- "UPHENO:0049585",
- "UPHENO:0003432",
- "HP:0011875",
- "UBERON:0001434",
+ "UPHENO:0002976",
+ "UPHENO:0074682",
"UPHENO:0001001",
+ "UPHENO:0080693",
+ "UPHENO:0002568",
+ "UPHENO:0002949",
"UPHENO:0002530",
- "CL:0000988",
- "HP:0002783",
- "NCBITaxon:2759",
+ "HP:0005939",
"UBERON:0001062",
- "UPHENO:0001002",
- "UPHENO:0002964",
- "OBI:0100026",
- "GO:0050896",
- "UBERON:0002405",
- "CL:0001035",
- "UPHENO:0082875",
- "HP:0025354",
- "UBERON:0000061",
"UBERON:0004120",
- "UPHENO:0002269",
- "HP:0002715",
- "HP:0011873",
- "UPHENO:0002574",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "HP:0011842",
- "PATO:0000001",
- "CL:0000233",
+ "UPHENO:0055024",
"UBERON:0015203",
- "UPHENO:0063722",
- "HP:0008069",
- "UPHENO:0005029",
- "UBERON:0004765",
- "HP:0005561",
- "HP:0025461",
- "HP:0001881",
- "CL:0000457",
- "UPHENO:0076692",
- "NCBITaxon:33208",
- "CL:0000151",
- "CL:0000225",
- "UBERON:0002048",
+ "BFO:0000004",
+ "UPHENO:0002526",
+ "CL:0000329",
+ "UPHENO:0076684",
+ "UPHENO:0002525",
+ "UBERON:0001434",
+ "UBERON:0011216",
"CL:0002242",
- "UBERON:0002199",
- "BFO:0000040",
+ "UPHENO:0054970",
+ "HP:0000118",
+ "CL:0000457",
+ "HP:0000001",
"UBERON:0002390",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0002859",
- "UPHENO:0002963",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0002416",
+ "HP:0011843",
"HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:3000003",
- "UBERON:0002097",
+ "HP:0010978",
"HP:0000924",
- "HP:0033127",
+ "GO:0050896",
+ "UBERON:0002371",
+ "HP:0002783",
+ "UPHENO:0082875",
+ "CL:0000225",
+ "UPHENO:0002448",
+ "UBERON:0000475",
+ "CL:0000458",
+ "UBERON:0013522",
+ "UBERON:0002204",
+ "UBERON:0004121",
+ "CL:0000738",
+ "HP:0008069",
"CL:0000081",
- "CL:0002092",
- "HP:0001872",
- "UPHENO:0087123",
- "HP:0000951",
- "UPHENO:0077348",
- "CL:0000764",
- "UBERON:0001474",
- "UPHENO:0002823",
- "UPHENO:0002668",
- "UPHENO:0074687",
- "CL:0000000",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "UPHENO:0002263",
+ "UPHENO:0002816",
+ "BFO:0000001",
+ "UPHENO:0002734",
+ "CL:0000763",
+ "UPHENO:0074681",
+ "BFO:0000003",
+ "HP:0001574",
+ "UBERON:0013701",
+ "UPHENO:0002536",
+ "UPHENO:0005092",
+ "UPHENO:0074624",
+ "UPHENO:0002963",
+ "UBERON:0000171",
+ "UBERON:0004765",
+ "UPHENO:0049585",
+ "HP:0033127",
+ "UBERON:0001015",
+ "UBERON:0009778",
+ "UBERON:0002048",
+ "HP:0012649",
+ "UBERON:0000383",
+ "HP:0012647",
+ "HP:0012145",
+ "UPHENO:0001002",
+ "UBERON:0000467",
+ "GO:0006952",
+ "UBERON:0034925",
+ "UBERON:0005178",
+ "UPHENO:0049588",
+ "UPHENO:0083263",
"UPHENO:0004459",
+ "UPHENO:0002385",
+ "UBERON:0000468",
+ "UPHENO:0002902",
+ "UPHENO:0049584",
+ "UBERON:0009569",
+ "UPHENO:0076692",
+ "UBERON:0034923",
+ "UPHENO:0080662",
+ "GO:0008150",
+ "HP:0002107",
+ "UPHENO:0003432",
+ "UPHENO:0002263",
+ "UPHENO:0049586",
],
"has_phenotype_closure_label": [
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "ectoderm-derived structure phenotype",
- "integument",
+ "Abnormality of the skin",
"Neoplasm",
- "integumental system",
- "skin of body",
- "integumental system phenotype",
- "Recurrent infections",
- "Recurrent respiratory infections",
- "Unusual infection",
- "lateral structure phenotype",
- "respiratory airway",
- "compound organ",
- "trunk region element",
- "serous sac",
- "respiratory system",
- "cellular organisms",
- "endoderm-derived structure",
- "pleura phenotype",
- "Eumetazoa",
- "pleural sac",
+ "neoplasm phenotype",
+ "ectoderm-derived structure",
"integument phenotype",
- "lung",
- "organ part phenotype",
- "respiratory system physiology phenotype",
- "mixed endoderm/mesoderm-derived structure phenotype",
- "subdivision of trunk",
- "respiratory tract",
- "serous membrane",
+ "Recurrent infections",
+ "integumental system",
+ "Respiratory tract infection",
"subdivision of tube",
- "Abnormal lung morphology",
- "subdivision of tube phenotype",
- "Neoplasm of the skin",
- "pleura",
- "Eukaryota",
+ "respiratory tract",
+ "anatomical wall phenotype",
+ "pleura phenotype",
+ "Abnormal respiratory system morphology",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "anatomical entity morphology phenotype",
+ "tube phenotype",
+ "Abnormality of the respiratory system",
+ "organ part",
+ "cellular organisms",
+ "mixed endoderm/mesoderm-derived structure",
"organ phenotype",
- "compound organ phenotype",
- "serous membrane phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "multi-tissue structure phenotype",
+ "integumental system phenotype",
+ "respiratory system physiology phenotype",
+ "respiratory system morphology phenotype",
+ "lower respiratory tract",
+ "organism subdivision",
+ "root",
"Abnormal pleura morphology",
- "proximo-distal subdivision of respiratory tract",
"thoracic cavity element",
- "body proper",
- "Opisthokonta",
+ "pleura",
+ "respiratory system",
+ "endoderm-derived structure",
+ "endoderm-derived structure phenotype",
"viscus",
- "respiratory system phenotype",
- "trunk",
- "anatomical conduit",
- "organism subdivision",
- "ectoderm-derived structure",
+ "subdivision of organism along main body axis",
"pleura morphology phenotype",
- "tube phenotype",
- "decreased number of myeloid cell",
+ "thoracic segment organ",
+ "body proper",
+ "Abnormal respiratory system physiology",
+ "Eukaryota",
+ "Abnormal lung morphology",
+ "respiratory airway",
+ "tube",
+ "pleural sac",
+ "compound organ",
+ "respiratory system phenotype",
+ "respiration organ",
+ "anatomical conduit phenotype",
+ "skeletal element",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Neoplasm of the skin",
+ "bone marrow cell",
+ "Metazoa",
+ "bone element",
+ "secretory cell",
+ "nucleate cell",
+ "Abnormal bone marrow cell morphology",
+ "trunk region element",
+ "bone marrow",
+ "eukaryotic cell",
+ "compound organ phenotype",
+ "response to stress phenotype",
+ "increased response to stimulus",
+ "motile cell",
"cell",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "Abnormality of the musculoskeletal system",
+ "blood cell",
"mesoderm-derived structure phenotype",
- "Abnormality of thrombocytes",
- "Pneumothorax",
- "Abnormal myeloid cell morphology",
- "mixed endoderm/mesoderm-derived structure",
- "number of platelet phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "myeloid cell",
+ "hematopoietic cell",
+ "erythrocyte",
+ "main body axis",
+ "leukocyte",
"Multiple cutaneous malignancies",
- "Abnormal respiratory system morphology",
- "blood cell phenotype",
- "Recurrent lower respiratory tract infections",
- "decreased number of anatomical structure",
- "specifically dependent continuant",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "organ",
+ "tissue",
+ "entity",
+ "multicellular organism morphology phenotype",
+ "Opisthokonta",
+ "Pancytopenia",
+ "material entity",
+ "Recurrent respiratory infections",
+ "bone cell",
+ "independent continuant",
+ "Abnormality of immune system physiology",
+ "musculature of body phenotype",
+ "increased qualitatively response to stimulus",
+ "defense response",
+ "musculoskeletal system",
+ "Multiple bilateral pneumothoraces",
+ "hematopoietic system",
+ "biological_process",
+ "process",
+ "Increased inflammatory response",
+ "multicellular organism",
+ "musculoskeletal system phenotype",
+ "All",
+ "skeletal system",
+ "occurrent",
+ "increased qualitatively biological_process",
+ "serous membrane",
+ "multicellular anatomical structure",
"biogenic amine secreting cell",
- "immune system phenotype",
- "increased defense response in bone element",
- "increased biological_process in bone element",
- "multicellular organism phenotype",
+ "Unusual infection",
+ "anatomical system phenotype",
+ "Abnormality of the integument",
+ "anatomical conduit",
+ "taxon specific phenotype",
+ "response to stress",
+ "Abnormality of blood and blood-forming tissues",
"material anatomical entity",
- "multicellular anatomical structure",
- "increased response to stress in bone element",
- "material anatomical entity phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "tube",
- "anatomical entity physiology phenotype",
- "Abnormality of the skeletal system",
- "musculoskeletal system physiology phenotype",
- "anatomical structure phenotype",
- "lower respiratory tract",
- "increased response to stimulus",
- "lateral structure",
- "platelet phenotype",
+ "biological_process phenotype",
+ "Abnormal musculoskeletal physiology",
+ "Pneumothorax",
+ "inflammatory response phenotype",
+ "increased inflammatory response in bone element",
+ "Abnormal inflammatory response",
+ "increased qualitatively inflammatory response",
"response to stimulus",
+ "anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "immune system",
"skeletal system phenotype",
- "biological_process",
- "thoracic segment organ",
- "increased qualitatively response to stimulus",
- "multi-tissue structure",
- "continuant",
- "Abnormal inflammatory response",
- "anatomical structure",
- "response to stimulus phenotype",
- "anucleate cell",
+ "anatomical entity physiology phenotype",
+ "musculature of body",
"skin of body phenotype",
- "Abnormality of the skin",
- "inflammatory response",
- "biological_process rate phenotype",
- "anatomical wall phenotype",
- "organ system subdivision phenotype",
- "All",
- "anatomical conduit phenotype",
"organ system subdivision",
- "number of cell phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormal musculoskeletal physiology",
- "independent continuant",
- "defense response",
- "multicellular organism",
- "Multiple bilateral pneumothoraces",
- "Metazoa",
- "occurrent",
- "increased biological_process",
- "Respiratory tract infection",
- "disconnected anatomical group",
+ "organ part phenotype",
+ "serous sac",
+ "material anatomical entity physiology phenotype",
+ "skin of body",
+ "mixed endoderm/mesoderm-derived structure phenotype",
+ "defense response phenotype",
+ "multi-tissue structure phenotype",
+ "lateral structure phenotype",
+ "immune system phenotype",
+ "ectoderm-derived structure phenotype",
"musculature phenotype",
- "Increased inflammatory response",
- "increased inflammatory response",
- "musculature of body phenotype",
+ "anatomical structure",
"anatomical entity",
- "musculoskeletal system",
- "immune system",
- "phenotype",
- "Abnormality of immune system physiology",
- "increased qualitatively biological_process",
- "process",
- "Abnormality of the immune system",
- "pair of lungs",
- "immune system physiology phenotype",
- "immune system morphology phenotype",
- "organism",
- "Abnormal cellular phenotype",
- "quality",
- "Abnormal respiratory system physiology",
- "anatomical entity phenotype",
- "oxygen accumulating cell",
- "biological_process phenotype",
+ "response to stimulus phenotype",
+ "anatomical collection",
+ "increased inflammatory response",
+ "phenotypic effect",
+ "serous membrane phenotype",
+ "anatomical system physiology phenotype",
"Osteomyelitis",
- "inflammatory response phenotype",
- "anatomical entity morphology phenotype",
- "response to stress",
- "bone element",
- "musculature of body",
- "Abnormality of the integument",
- "main body axis",
- "musculature",
- "number of anatomical enitites of type anatomical structure phenotype",
- "proximo-distal subdivision of respiratory tract phenotype",
- "skeletal system",
- "Abnormality of the respiratory system",
- "response to stress phenotype",
- "increased inflammatory response in bone element",
- "Abnormal cell morphology",
- "decreased number of platelet",
- "musculoskeletal system phenotype",
"anatomical system",
- "thoracic segment of trunk",
- "increased qualitatively inflammatory response",
- "non-connected functional system",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype",
- "decreased number of material anatomical entity",
- "increased response to stimulus in bone element",
- "Abnormal bone marrow cell morphology",
- "decreased number of anatomical entity",
- "Abnormal leukocyte morphology",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "tissue",
- "organ",
- "root",
- "multicellular anatomical structure phenotype",
+ "Recurrent lower respiratory tract infections",
+ "trunk",
"serotonin secreting cell",
- "hematopoietic cell",
- "hemolymphoid system",
+ "oxygen accumulating cell",
+ "disconnected anatomical group",
+ "Abnormality of the immune system",
+ "lung",
+ "pair of lungs",
+ "non-connected functional system",
+ "Eumetazoa",
+ "increased biological_process",
+ "Neoplasm by anatomical site",
+ "lateral structure",
+ "biological_process rate phenotype",
+ "integument",
+ "inflammatory response",
+ "Abnormality of the skeletal system",
"erythroid lineage cell",
- "respiratory system morphology phenotype",
- "Thrombocytopenia",
- "skeletal element",
- "Abnormal platelet morphology",
- "bone marrow",
- "Abnormal cellular immune system morphology",
- "taxon specific phenotype",
- "Abnormal immune system morphology",
- "Abnormality of multiple cell lineages in the bone marrow",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "defense response phenotype",
- "multicellular organism morphology phenotype",
- "subdivision of organism along main body axis",
- "material entity",
- "leukocyte",
- "organ part",
- "blood cell",
- "myeloid cell",
- "entity",
- "number of hematopoietic cell phenotype",
"platelet",
- "Abnormality of blood and blood-forming tissues",
- "erythrocyte",
- "bone cell",
- "respiration organ",
- "bone marrow cell",
- "decreased number of hematopoietic cell",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "hematopoietic system phenotype",
+ "organ system subdivision phenotype",
+ "musculoskeletal system physiology phenotype",
+ "continuant",
+ "subdivision of tube phenotype",
+ "increased response to stimulus in bone element",
+ "thoracic segment of trunk",
+ "multi-tissue structure",
+ "increased biological_process in bone element",
+ "musculature",
+ "immune system physiology phenotype",
+ "increased response to stress in bone element",
+ "phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism phenotype",
+ "anucleate cell",
+ "increased defense response in bone element",
"anatomical wall",
- "Pancytopenia",
- "leukocyte morphology phenotype",
- "Abnormal skeletal morphology",
- "Abnormal leukocyte count",
- "secretory cell",
- "motile cell",
- "cell phenotype",
- "nucleate cell",
- "eukaryotic cell",
- "hematopoietic system",
- "Abnormal platelet count",
+ "anatomical structure physiology phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "material anatomical entity phenotype",
],
},
+ {
+ "id": "MONDO:1011502",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, cattle",
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIA:000366-9913"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
{
"id": "MONDO:1011504",
"category": "biolink:Disease",
@@ -5957,40 +5691,94 @@ def search_response():
"has_phenotype_count": 0,
},
{
- "id": "MONDO:0060778",
+ "id": "MONDO:0060779",
"category": "biolink:Disease",
- "name": "adult Fanconi syndrome",
- "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "name": "acquired Fanconi syndrome",
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
"provided_by": "phenio_nodes",
- "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "xref": ["MEDGEN:90966", "NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"],
+ "synonym": ["acquired Fanconi syndrome"],
"namespace": "MONDO",
- "has_phenotype": ["HP:0003581"],
- "has_phenotype_count": 1,
- "has_phenotype_closure": ["HP:0003581"],
+ "has_phenotype_count": 0,
},
{
- "id": "MONDO:1011502",
+ "id": "MONDO:0001083",
"category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
- "description": "Fanconi syndrome that occurs in cattle.",
+ "name": "Fanconi renotubular syndrome",
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
"provided_by": "phenio_nodes",
- "xref": ["OMIA:000366-9913"],
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624",
+ ],
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome",
+ ],
"namespace": "MONDO",
"has_phenotype_count": 0,
},
{
- "id": "MONDO:0013247",
+ "id": "MONDO:1011503",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 2",
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
+ "name": "Fanconi syndrome, dog",
+ "description": "Fanconi syndrome that occurs in dog.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
- "synonym": [
- "FRTS2",
- "Fanconi renotubular syndrome 2",
- "Fanconi renotubular syndrome type 2",
- "Fanconi syndrome caused by mutation in SLC34A1",
+ "xref": ["OMIA:000366-9615"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "provided_by": "phenio_nodes",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_label": ["Adult onset"],
+ "has_phenotype_count": 1,
+ "has_phenotype_closure": ["HP:0012823", "HP:0031797", "HP:0003674", "HP:0003581", "HP:0000001"],
+ "has_phenotype_closure_label": [
+ "All",
+ "Clinical course",
+ "Adult onset",
+ "Clinical modifier",
+ "Onset",
+ ],
+ },
+ {
+ "id": "MONDO:0013247",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome 2",
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.",
+ "provided_by": "phenio_nodes",
+ "xref": ["DOID:0080758", "GARD:15655", "MEDGEN:462002", "OMIM:613388", "UMLS:C3150652"],
+ "synonym": [
+ "FRTS2",
+ "Fanconi renotubular syndrome 2",
+ "Fanconi renotubular syndrome type 2",
+ "Fanconi syndrome caused by mutation in SLC34A1",
"SLC34A1 Fanconi syndrome",
],
"namespace": "MONDO",
@@ -6034,10785 +5822,11666 @@ def search_response():
],
"has_phenotype_count": 17,
"has_phenotype_closure": [
- "HP:0000083",
+ "UPHENO:0004503",
+ "HP:0000002",
+ "CHEBI:33559",
+ "UBERON:0015212",
"CHEBI:33318",
- "UPHENO:0051712",
+ "CHEBI:33521",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "GO:0040007",
"HP:0011280",
- "HP:0002653",
- "HP:0025142",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
+ "UPHENO:0068134",
+ "HP:0012212",
+ "HP:0012531",
"UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0049874",
+ "UPHENO:0080351",
"HP:0004322",
- "CHEBI:36080",
- "UPHENO:0068477",
- "UPHENO:0082943",
- "HP:0003165",
- "HP:0002157",
- "HP:0003117",
- "UPHENO:0003116",
- "PR:000064867",
- "UPHENO:0051612",
- "UBERON:0034923",
- "HP:0002152",
- "UPHENO:0051630",
- "PR:000013429",
- "CHEBI:33694",
- "UPHENO:0068068",
- "HP:0010876",
- "HP:0430071",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "UPHENO:0069062",
+ "UBERON:0015204",
+ "UPHENO:0081440",
+ "CHEBI:26191",
"HP:0033331",
- "UPHENO:0052038",
- "UBERON:0001977",
- "UPHENO:0068442",
- "UPHENO:0051648",
- "CHEBI:33695",
- "UPHENO:0068472",
+ "UPHENO:0002909",
+ "UPHENO:0082541",
+ "PR:000013429",
+ "UBERON:0000949",
"UBERON:0015203",
- "UPHENO:0068533",
+ "UPHENO:0051686",
+ "UPHENO:0068049",
+ "UPHENO:0003116",
+ "PR:000000001",
+ "HP:0003117",
+ "UPHENO:0066943",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "UPHENO:0066951",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
"CHEBI:35381",
- "CHEBI:22313",
- "CHEBI:33917",
+ "UPHENO:0081423",
"CHEBI:16646",
+ "HP:0002653",
+ "UPHENO:0082536",
"CHEBI:78616",
+ "HP:0003076",
+ "CHEBI:32988",
+ "UPHENO:0046344",
+ "HP:0000093",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "CHEBI:33256",
"CHEBI:33839",
"HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "CHEBI:37622",
- "GO:0008202",
- "GO:0006775",
- "UPHENO:0076293",
- "CHEBI:51958",
- "CHEBI:18059",
- "UPHENO:0000541",
- "CHEBI:26191",
+ "UPHENO:0068477",
+ "UPHENO:0002554",
+ "UBERON:0000064",
+ "UPHENO:0068565",
+ "UPHENO:0079534",
+ "HP:0100508",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "UPHENO:0068251",
+ "UPHENO:0049873",
"CHEBI:35350",
- "UPHENO:0081423",
- "UPHENO:0050502",
- "GO:0006629",
- "UPHENO:0049627",
+ "UPHENO:0051628",
+ "UPHENO:0000541",
+ "UPHENO:0068442",
+ "CHEBI:51958",
+ "HP:0000114",
+ "UPHENO:0046291",
"UPHENO:0082539",
- "UPHENO:0068251",
- "UPHENO:0048763",
- "UPHENO:0078589",
- "GO:0040007",
"UPHENO:0049618",
+ "GO:0006775",
+ "CHEBI:33822",
+ "HP:0003111",
+ "UPHENO:0002246",
+ "UPHENO:0068068",
+ "CHEBI:33635",
+ "UPHENO:0002636",
+ "CHEBI:33832",
+ "UBERON:0002100",
+ "UPHENO:0078628",
"CHEBI:35788",
- "UPHENO:0075195",
- "CHEBI:47042",
"CHEBI:17823",
- "HP:0032245",
- "UPHENO:0068064",
- "CHEBI:33832",
- "CHEBI:33822",
- "HP:0031415",
- "UPHENO:0080643",
- "UPHENO:0089764",
"CHEBI:27300",
- "CHEBI:36853",
+ "UPHENO:0002832",
+ "GO:0008202",
+ "CHEBI:36963",
+ "CHEBI:47042",
"CHEBI:27136",
+ "UPHENO:0081424",
+ "CHEBI:36853",
+ "UPHENO:0002536",
+ "UBERON:0005172",
+ "CHEBI:35341",
+ "PR:000064867",
+ "UPHENO:0002311",
+ "UPHENO:0049723",
+ "GO:0006629",
+ "GO:1901615",
+ "UBERON:0000467",
+ "CHEBI:33582",
"GO:0044238",
- "GO:0044281",
- "UPHENO:0068047",
- "CHEBI:33674",
- "HP:0033354",
- "CHEBI:36963",
- "UBERON:0006555",
- "GO:0032501",
- "UPHENO:0068134",
- "UPHENO:0002754",
- "UBERON:0005173",
- "UBERON:0015212",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "UPHENO:0046291",
+ "UBERON:8450002",
+ "UPHENO:0002385",
+ "UBERON:0001977",
+ "UPHENO:0076293",
+ "HP:0025745",
+ "CHEBI:33285",
+ "CHEBI:35352",
+ "UBERON:0000062",
+ "UPHENO:0052038",
+ "GO:0042359",
"HP:0010935",
- "UBERON:0004122",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UPHENO:0082536",
- "UBERON:0013701",
- "UPHENO:0002360",
- "CHEBI:73558",
+ "CHEBI:35605",
+ "UPHENO:0089294",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "PR:000018263",
+ "CHEBI:33608",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "HP:0002909",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "CHEBI:22984",
+ "UPHENO:0068144",
+ "UPHENO:0068047",
+ "UPHENO:0002422",
+ "CHEBI:33595",
+ "UPHENO:0077817",
+ "CHEBI:36587",
+ "UPHENO:0046383",
"UPHENO:0046286",
- "UPHENO:0004503",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "HP:0000938",
+ "HP:0001507",
+ "UPHENO:0002926",
"HP:0002748",
- "UPHENO:0002909",
- "UBERON:0005172",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0081547",
- "UPHENO:0050116",
- "UPHENO:0002832",
+ "HP:0003110",
+ "UBERON:0000174",
+ "HP:0032245",
+ "HP:0000117",
+ "GO:0001503",
+ "HP:0003330",
"HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UBERON:0000463",
- "UBERON:0000061",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:37577",
+ "HP:0004349",
+ "HP:0011842",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "HP:0100511",
+ "UPHENO:0082834",
+ "UPHENO:0002346",
+ "HP:0011849",
+ "UPHENO:0002559",
+ "UPHENO:0066913",
+ "UPHENO:0080352",
+ "HP:0000079",
+ "UBERON:0000383",
+ "UPHENO:0002377",
+ "UPHENO:0051709",
+ "UPHENO:0002816",
+ "CHEBI:50047",
"HP:0000924",
- "CHEBI:33635",
- "HP:0033127",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0000118",
- "UPHENO:0003088",
- "UPHENO:0049723",
+ "UPHENO:0076286",
+ "HP:0003165",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0002757",
+ "UPHENO:0004505",
"UBERON:0001434",
- "UPHENO:0078628",
- "UPHENO:0002442",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UPHENO:0046281",
- "UBERON:0001062",
- "HP:0001871",
- "UBERON:0000178",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "HP:0100508",
- "CHEBI:33675",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "CHEBI:24431",
- "GO:0042592",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0075902",
- "CHEBI:23367",
- "HP:0012213",
- "UBERON:0002100",
- "UPHENO:0082534",
+ "UBERON:0004765",
+ "UPHENO:0002531",
+ "HP:0011843",
+ "UPHENO:0081544",
+ "UPHENO:0003432",
+ "UBERON:0001474",
+ "UBERON:0000025",
+ "UBERON:0003103",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UPHENO:0003941",
+ "GO:0044281",
+ "UPHENO:0003093",
+ "HP:0100529",
"HP:0000119",
- "UBERON:0015204",
- "UPHENO:0046284",
- "UPHENO:0002554",
- "UPHENO:0034351",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "UPHENO:0082541",
- "HP:0000114",
+ "UPHENO:0081581",
"BFO:0000001",
- "UBERON:0001231",
- "UPHENO:0089294",
+ "UBERON:0001008",
+ "UBERON:0000463",
+ "UPHENO:0000543",
+ "UPHENO:0003413",
"UPHENO:0002248",
- "HP:0100511",
- "UPHENO:0003430",
"BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:33595",
- "CHEBI:33302",
- "BFO:0000004",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UBERON:0000025",
- "HP:0031980",
- "GO:0008152",
- "UPHENO:0002427",
- "CHEBI:51143",
- "UPHENO:0046344",
- "UPHENO:0004505",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UPHENO:0002536",
- "GO:0001503",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "CHEBI:33579",
- "UBERON:0000467",
- "BFO:0000003",
- "UBERON:0000174",
- "UBERON:0001474",
- "UBERON:0010000",
- "CHEBI:36360",
- "HP:0000001",
- "UPHENO:0084654",
- "UBERON:0013702",
- "UPHENO:0068054",
- "HP:0002757",
- "UPHENO:0068049",
- "UPHENO:0051960",
- "HP:0003111",
- "GO:0042359",
- "UPHENO:0003093",
+ "UBERON:0002113",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UPHENO:0005092",
"UPHENO:0002252",
- "UBERON:0000949",
- "UBERON:0000064",
- "GO:1901615",
- "UPHENO:0002926",
+ "UBERON:0005173",
+ "UBERON:0000475",
+ "UPHENO:0068472",
+ "CHEBI:37622",
+ "UBERON:0001969",
+ "UBERON:0000179",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
"UPHENO:0066939",
+ "HP:0012211",
+ "UBERON:0034923",
+ "UPHENO:0002427",
+ "UPHENO:0003088",
+ "CHEBI:37577",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0068054",
+ "UPHENO:0046281",
+ "HP:0012599",
"CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0046284",
+ "UPHENO:0002803",
+ "UBERON:0001088",
+ "UPHENO:0002530",
+ "HP:0002659",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0003025",
+ "UPHENO:0051900",
+ "UPHENO:0002963",
+ "UPHENO:0066903",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "UPHENO:0003381",
"UPHENO:0002267",
+ "GO:0009987",
+ "UBERON:0007684",
+ "HP:0003355",
"UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0002568",
- "CHEBI:24870",
- "CHEBI:26082",
- "UPHENO:0077817",
- "UBERON:0004111",
- "UBERON:0005177",
- "GO:0008150",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0068491",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UPHENO:0066739",
+ "UBERON:0000916",
+ "UBERON:0004122",
+ "UPHENO:0089764",
"UBERON:0009773",
- "UPHENO:0081544",
- "UBERON:0002113",
- "CHEBI:33575",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002308",
+ "UPHENO:3000004",
+ "UBERON:0004120",
+ "UBERON:0001231",
"CHEBI:24651",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0051628",
- "UBERON:0011676",
- "HP:0012212",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "UBERON:0000483",
- "UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
+ "HP:0004348",
+ "CHEBI:36360",
+ "CHEBI:33302",
+ "UBERON:0013701",
+ "UPHENO:0068110",
+ "UPHENO:0002287",
+ "HP:0033127",
"CHEBI:16541",
- "UPHENO:0004791",
- "UPHENO:0003941",
- "HP:0033405",
- "UPHENO:0005285",
- "UPHENO:0051739",
- "CHEBI:22984",
+ "UBERON:0003914",
+ "HP:0031415",
+ "CHEBI:24833",
+ "UPHENO:0084654",
+ "UPHENO:0051712",
+ "HP:0032180",
+ "UPHENO:0051648",
+ "UPHENO:0089759",
"HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "HP:0002150",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "CHEBI:73558",
+ "UPHENO:0002668",
+ "UPHENO:0050502",
+ "CHEBI:64709",
+ "GO:0042592",
+ "CHEBI:26020",
+ "UBERON:0000489",
"BFO:0000015",
- "HP:0000938",
+ "CHEBI:24867",
+ "UPHENO:0049627",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UBERON:0000178",
+ "CHEBI:23367",
+ "GO:0006766",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0048763",
+ "HP:0012591",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0000818",
+ "CHEBI:15693",
+ "UBERON:0013702",
+ "UPHENO:0024906",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0051630",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
"UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "HP:0100530",
- "UPHENO:0002385",
- "HP:0012531",
- "CHEBI:36587",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "UPHENO:3000004",
- "UPHENO:0002976",
+ "CHEBI:36357",
+ "UPHENO:0002360",
+ "UPHENO:0068064",
+ "GO:0008150",
+ "UPHENO:0050116",
+ "HP:0001939",
+ "GO:0008152",
+ "CHEBI:36586",
+ "UPHENO:0034253",
"CHEBI:33238",
+ "UPHENO:0002532",
+ "UBERON:0004819",
+ "BFO:0000002",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
"UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0079534",
- "UPHENO:0002422",
+ "HP:0012213",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UPHENO:0076285",
+ "UPHENO:0002949",
+ "CHEBI:33241",
"UPHENO:0066964",
- "CHEBI:33521",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UPHENO:0076286",
- "GO:0006766",
- "CHEBI:35352",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UPHENO:0046362",
- "UBERON:0000479",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0004364",
- "UPHENO:0048711",
- "CHEBI:35605",
- "HP:0011843",
- "UPHENO:0077826",
- "HP:0000079",
- "UPHENO:0024906",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "CHEBI:35341",
- "UBERON:8450002",
- "UBERON:0000383",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
+ "UPHENO:0002964",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "UPHENO:0002210",
+ "UPHENO:0004791",
+ "CHEBI:18059",
+ "BFO:0000004",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "HP:0002148",
+ "UPHENO:0051960",
+ "CHEBI:26082",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0002442",
"UPHENO:0004418",
- "UBERON:0011143",
- "PATO:0000001",
- "UBERON:0001285",
- "HP:0000818",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0077826",
+ "UBERON:0006555",
+ "UBERON:0000468",
+ "UBERON:0010000",
+ "UPHENO:0080643",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0069327",
+ "UPHENO:0082534",
+ "UPHENO:0048711",
+ "UBERON:0004211",
+ "HP:0002150",
"UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0001002",
- "HP:0002659",
- "UPHENO:0002532",
- "UPHENO:0081440",
- "UPHENO:0002964",
- "UPHENO:0084653",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
"UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "PR:000018263",
- "HP:0000117",
- "UPHENO:0066925",
- "HP:0012591",
- "HP:0012599",
- "UBERON:0001088",
- "CHEBI:36962",
- "CHEBI:36359",
- "HP:0003355",
- "CHEBI:33559",
- "CHEBI:50047",
- "CHEBI:36586",
- "HP:0002909",
- "CHEBI:25806",
- "UPHENO:0068144",
- "CHEBI:24833",
- "CHEBI:50860",
- "UPHENO:0089759",
- "UPHENO:0049873",
- "UPHENO:0066960",
"CHEBI:33709",
- "CHEBI:33582",
- "CHEBI:33608",
- "HP:6000531",
- "CHEBI:72695",
- "HP:0040156",
- "CHEBI:33256",
- "HP:0001992",
- "UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
- "CHEBI:64709",
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0078589",
+ "HP:0100530",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285",
],
"has_phenotype_closure_label": [
"Renal insufficiency",
- "Hypercalciuria",
+ "abdomen element",
"increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
+ "organic amino compound",
"calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
+ "process",
+ "urine calcium atom level phenotype",
+ "alkaline earth metal atom",
+ "main group element atom",
"Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
"Constitutional symptom",
+ "anatomical entity height phenotype",
+ "oxygen molecular entity",
+ "delayed growth",
"Short stature",
- "size of anatomical entity phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "Abnormality of body height",
+ "epithelium",
+ "decreased size of the multicellular anatomical structure",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
"delayed biological_process",
+ "anatomical system physiology phenotype",
+ "kidney epithelium",
+ "trunk phenotype",
+ "Pain",
+ "decreased size of the material anatomical entity",
+ "phosphate level phenotype",
"Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
"blood serum",
+ "blood plasma",
"glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
+ "decreased functionality of the anatomical structure",
+ "increased level of chemical entity in blood serum",
+ "Growth delay",
+ "bone element phenotype",
"amino acid chain",
- "disconnected anatomical group",
+ "increased blood serum role level",
+ "main body axis",
+ "protein-containing molecular entity",
+ "increased level of chemical entity in blood plasma",
"blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
+ "increased level of parathyroid hormone in blood",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "Acute phase response",
+ "increased bodily fluid base level",
+ "non-connected functional system",
+ "increased level of parathyroid hormone in blood serum",
+ "haemolymphatic fluid phenotype",
+ "parathyroid hormone",
+ "organic polycyclic compound",
+ "cavitated compound organ phenotype",
+ "carbohydrate",
"Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
+ "Proteinuria",
+ "s-block element atom",
+ "Aminoaciduria",
+ "s-block molecular entity",
+ "Abnormal urine protein level",
+ "increased level of protein polypeptide chain in urine",
"macromolecule",
+ "primary metabolic process",
+ "small molecule metabolic process",
+ "homeostatic process",
"polypeptide",
+ "role bodily fluid level phenotype",
+ "lipid metabolic process phenotype",
+ "increased level of monosaccharide in urine",
+ "increased blood serum base level",
+ "seco-steroid",
+ "calcitriol",
+ "vitamin D",
+ "organ part",
+ "hydroxycalciol",
+ "ossification",
"protein polypeptide chain",
+ "endocrine system phenotype",
+ "triol",
+ "cellular process",
"metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
+ "decreased size of the multicellular organism",
+ "vitamin D metabolic process phenotype",
+ "Renal tubular dysfunction",
+ "vitamin metabolic process phenotype",
+ "material anatomical entity phenotype",
"increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
+ "urine glucose level phenotype",
+ "organic hydroxy compound",
+ "Osteomalacia",
+ "upper urinary tract phenotype",
+ "polycyclic compound",
+ "organic cyclic compound",
"polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
"glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
+ "hormone blood level phenotype",
+ "size of multicellular organism phenotype",
+ "High serum calcitriol",
+ "compound organ physiology phenotype",
+ "vitamin metabolic process",
+ "steroid metabolic process",
+ "Abnormal blood phosphate concentration",
"cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
"blood organic molecular entity level phenotype",
- "polycyclic compound",
+ "Abnormal metabolism",
+ "increased level of calcitriol in blood",
+ "organ",
+ "blood organic amino compound level phenotype",
+ "vitamin D level phenotype",
+ "steroid metabolic process phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
"increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
+ "increased level of organic acid in urine",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "blood serum chemical entity level phenotype",
+ "growth phenotype",
"Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
+ "oxoacid",
+ "steroid",
+ "organic oxo compound",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "renal tubule phenotype",
+ "nitrogen molecular entity level phenotype",
+ "Generalized aminoaciduria",
+ "nephron epithelium phenotype",
+ "molecule",
+ "chalcogen molecular entity",
+ "hydroxides",
+ "amino acid level phenotype",
+ "role blood level phenotype",
+ "primary amide",
+ "epithelium physiology phenotype",
+ "Osteopenia",
+ "Rickets",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
"amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
+ "Abnormal urinary electrolyte concentration",
+ "Renal phosphate wasting",
"blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "decreased level of phosphate in blood",
- "Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
- "nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
- "molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
"anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
+ "Abnormal bone structure",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "metal atom",
+ "aldose",
+ "skeletal system morphology phenotype",
"Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
- "material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
+ "body proper",
+ "lipid level phenotype",
"Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
- "organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
- "organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
+ "calcium atom",
+ "homeostatic process phenotype",
+ "bone element",
+ "increased urine role level",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "musculoskeletal system",
+ "carboxamide",
+ "blood",
+ "vitamin D metabolic process",
+ "decreased functionality of the anatomical conduit",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased level of lipid",
+ "Abnormality of the skeletal system",
+ "genitourinary system phenotype",
+ "multicellular anatomical structure",
+ "Recurrent fractures",
+ "trunk",
+ "Abnormal musculoskeletal physiology",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Abnormal circulating hormone concentration",
+ "decreased functionality of the renal tubule",
+ "skeletal system",
+ "musculature of body phenotype",
+ "Elevated circulating parathyroid hormone level",
+ "abdominal segment element phenotype",
+ "musculature of body",
+ "multicellular organism height phenotype",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "excretory tube physiology phenotype",
+ "renal tubule",
+ "decreased level of phosphate in blood",
+ "Proximal tubulopathy",
+ "Abnormality of vitamin D metabolism",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "epithelial tube",
+ "molecular entity",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
"cavitated compound organ physiology phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
- "decreased level of chemical entity in blood",
+ "Abnormality of the upper urinary tract",
+ "genitourinary system",
+ "carbon group molecular entity",
+ "metabolic process",
+ "material entity",
+ "epithelial tube physiology phenotype",
+ "blood parathyroid hormone level phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
"compound organ phenotype",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "carbohydrates and carbohydrate derivatives",
+ "trunk region element",
+ "Abnormality of vitamin metabolism",
+ "phosphate",
"Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
- "peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
+ "organism subdivision",
+ "organism substance phenotype",
"organ system subdivision",
- "lipid metabolic process phenotype",
- "cavitated compound organ",
- "abdomen",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "Abnormality of urine calcium concentration",
+ "organic hydroxy compound metabolic process phenotype",
+ "Abnormal glomerular filtration rate",
+ "lipid metabolic process",
+ "renal system",
+ "hydroxy steroid",
"uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
- "decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
+ "upper urinary tract",
+ "nephron epithelium",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "decreased level of chemical entity in blood",
+ "organ part phenotype",
+ "Abnormal urine phosphate concentration",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "kidney physiology phenotype",
+ "lateral structure physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Glycosuria",
"ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
+ "abdominal segment element physiology phenotype",
+ "Bone pain",
+ "protein",
+ "nephron",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "abdominal segment element",
+ "skeletal element phenotype",
+ "kidney phenotype",
+ "decreased functionality of the epithelial tube",
+ "nephron tubule phenotype",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "All",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
+ "tissue",
"musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
+ "decreased height of the anatomical entity",
+ "increased blood role level",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "multicellular organism",
+ "lateral structure phenotype",
+ "increased level of chemical entity in blood",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "D3 vitamins",
+ "Abnormality of urine homeostasis",
+ "lipid",
+ "tissue phenotype",
+ "musculature",
+ "monosaccharide",
"bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "small molecule metabolic process phenotype",
+ "renal system physiology phenotype",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "increased level of lipid in blood",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "decreased functionality of the epithelium",
+ "endocrine system",
+ "entity",
+ "hydroxy seco-steroid",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
"Abnormal circulating metabolite concentration",
+ "primary metabolic process phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
"independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "Abnormality of the endocrine system",
+ "continuant",
+ "increased level of glucose in urine",
"renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "hematopoietic system phenotype",
+ "blood phosphate level phenotype",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "blood monoatomic ion level phenotype",
+ "fat-soluble vitamin metabolic process",
+ "occurrent",
+ "Hypercalciuria",
+ "organic hydroxy compound metabolic process",
+ "organ phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
"musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "excretory tube",
+ "increased level of vitamin D",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "Reduced bone mineral density",
+ "size of anatomical entity phenotype",
+ "haemolymphatic fluid",
+ "abdominal segment of trunk",
+ "monoatomic entity",
"organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
+ "subdivision of organism along main body axis",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "Decreased bone element mass density",
"musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
+ "decreased functionality of the tissue",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical structure",
"decreased functionality of the anatomical entity",
- "organ part phenotype",
"anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
+ "phosphorus oxoacid derivative",
+ "atom",
+ "excretory tube phenotype",
+ "anatomical system phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
"decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
+ "epithelial tube phenotype",
"blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
- "nitrogen molecular entity level phenotype",
- "Elevated urinary carboxylic acid",
- "amino acid level phenotype",
- "heteroorganic entity",
- "organic acid",
- "High serum calcitriol",
+ "multicellular organism chemical entity level phenotype",
+ "compound organ",
"urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "p-block molecular entity",
+ "phosphorus molecular entity",
+ "role blood serum level phenotype",
+ "phenotype",
"Abnormal urine metabolite level",
],
},
{
- "id": "MONDO:0014275",
+ "id": "MONDO:0030056",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "name": "Fanconi renotubular syndrome 5",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
+ "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
"synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH",
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0003259",
- "HP:0001942",
- "HP:0001510",
- "HP:0003109",
- "HP:0002748",
- "HP:0002979",
+ "HP:0002148",
+ "HP:0002206",
+ "HP:0004912",
+ "HP:0002857",
+ "HP:0004918",
+ "HP:0045051",
+ "HP:0000093",
"HP:0003076",
- "HP:0000083",
- "HP:0004322",
+ "HP:0002097",
"HP:0003355",
- "HP:0003126",
+ "HP:0005576",
+ "HP:0003774",
+ "HP:0000822",
+ "HP:0030078",
],
"has_phenotype_label": [
- "Elevated circulating creatinine concentration",
- "Metabolic acidosis",
- "Growth delay",
- "Hyperphosphaturia",
- "Rickets",
- "Bowing of the legs",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Hyperchloremic metabolic acidosis",
+ "Decreased DLCO",
+ "Proteinuria",
"Glycosuria",
- "Renal insufficiency",
- "Short stature",
+ "Emphysema",
"Aminoaciduria",
- "Low-molecular-weight proteinuria",
+ "Tubulointerstitial fibrosis",
+ "Stage 5 chronic kidney disease",
+ "Hypertension",
+ "Lung adenocarcinoma",
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 14,
"has_phenotype_closure": [
- "CHEBI:33839",
- "HP:0020129",
- "CHEBI:16670",
- "CHEBI:16541",
- "HP:0003126",
- "CHEBI:33674",
- "HP:0025745",
- "CHEBI:36586",
- "CHEBI:33608",
- "CHEBI:24651",
- "HP:0031980",
- "CHEBI:33709",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:50047",
- "UPHENO:0046286",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0069062",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0075195",
- "HP:0004322",
+ "HP:0100526",
+ "HP:0002664",
+ "HP:0100606",
+ "HP:0030358",
+ "UBERON:0000055",
+ "UBERON:0001981",
+ "UBERON:0034923",
+ "HP:0001626",
+ "UPHENO:0002406",
+ "HP:0011025",
+ "UBERON:0004535",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0032263",
+ "UPHENO:0002360",
+ "UPHENO:0002422",
"UPHENO:0002426",
- "UBERON:0005172",
- "UBERON:0005177",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
+ "HP:0012211",
"HP:0000083",
- "UBERON:0013702",
- "UBERON:0011676",
- "UPHENO:0003025",
+ "UPHENO:0002377",
+ "HP:0012622",
+ "UPHENO:0004791",
+ "UPHENO:0003941",
+ "HP:0005576",
+ "UBERON:0006555",
+ "UBERON:0005173",
+ "UPHENO:0005141",
+ "HP:0000091",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "HP:0001969",
+ "UPHENO:0003430",
"UPHENO:0003093",
- "UPHENO:0003413",
- "UPHENO:0002803",
- "UPHENO:0003088",
+ "UBERON:0009773",
+ "UBERON:0007684",
+ "UBERON:0004211",
+ "UBERON:0004122",
"UBERON:0000916",
- "UBERON:0002100",
- "UBERON:0002417",
- "UPHENO:0002246",
- "UPHENO:0002377",
- "UPHENO:0003094",
+ "HP:0002814",
+ "UBERON:0011143",
+ "UPHENO:0003086",
+ "UPHENO:0076756",
+ "UBERON:0001285",
"UPHENO:0002909",
- "HP:0033354",
- "UPHENO:0068054",
- "UBERON:0002113",
- "UPHENO:0081544",
+ "UBERON:0004819",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UPHENO:0005285",
+ "HP:0025745",
+ "HP:0010935",
+ "CHEBI:35605",
+ "UPHENO:0049587",
+ "HP:0003355",
+ "UPHENO:0068169",
+ "UBERON:0000170",
+ "UPHENO:0087427",
+ "CHEBI:33608",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UBERON:0010740",
+ "UPHENO:0046286",
+ "UBERON:0011582",
+ "CHEBI:33575",
+ "UPHENO:0075945",
+ "MPATH:597",
+ "UPHENO:0005214",
+ "MPATH:596",
+ "MPATH:25",
+ "UPHENO:0031123",
+ "MPATH:1000",
+ "UPHENO:0051635",
+ "UBERON:0013702",
+ "HP:0002097",
+ "HP:6000531",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
- "UPHENO:0089294",
+ "UBERON:0010538",
"CHEBI:16646",
"CHEBI:78616",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0002585",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UBERON:0005055",
- "UPHENO:0081424",
- "UBERON:0010740",
- "UBERON:0004709",
- "UBERON:0000475",
- "UPHENO:0069254",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0086780",
- "HP:0040064",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0011314",
- "UPHENO:0084763",
- "UPHENO:0068049",
- "UBERON:0002103",
- "UPHENO:0002536",
- "GO:0001503",
- "UPHENO:0049874",
- "UPHENO:0001002",
- "UBERON:0002513",
- "GO:0040007",
- "HP:0001942",
- "UPHENO:0002944",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "CHEBI:25367",
- "UPHENO:0002530",
- "HP:0000118",
- "CHEBI:38101",
- "UBERON:0000467",
- "BFO:0000003",
- "HP:0001871",
- "UPHENO:0089764",
- "CHEBI:64709",
- "CHEBI:25693",
- "HP:6000531",
- "CHEBI:72695",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0003050",
- "UPHENO:0002963",
- "UBERON:0004122",
- "HP:0002157",
- "CHEBI:35605",
- "HP:0004364",
- "UPHENO:0081423",
- "UBERON:0015061",
+ "HP:0030078",
+ "HP:0003076",
+ "CHEBI:33285",
+ "HP:0045051",
"CHEBI:36963",
- "CHEBI:26020",
- "UBERON:0000179",
- "UPHENO:0002559",
- "CHEBI:33670",
- "UPHENO:0031339",
- "CHEBI:24532",
- "UBERON:0000061",
- "UBERON:0000463",
+ "HP:0100529",
+ "HP:0000119",
"UPHENO:0051686",
- "CHEBI:32988",
- "UPHENO:0002983",
- "CHEBI:16737",
- "UBERON:0001062",
+ "UPHENO:0089294",
+ "UBERON:0004375",
+ "HP:0003110",
+ "HP:0000093",
+ "UPHENO:0068491",
+ "MPATH:0",
+ "UBERON:0000174",
+ "CHEBI:50860",
+ "UPHENO:0031276",
+ "CHEBI:25806",
+ "UBERON:0003914",
+ "HP:0002813",
+ "CHEBI:16541",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "UBERON:0000072",
+ "UPHENO:3000004",
+ "HP:0000822",
+ "UBERON:0001465",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "CHEBI:33839",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0004418",
+ "UPHENO:0002442",
"UPHENO:0002554",
- "UPHENO:0002422",
- "UPHENO:0079534",
- "UBERON:0013701",
- "UPHENO:0082536",
- "BFO:0000004",
- "UBERON:0000468",
+ "UBERON:0000064",
"UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0081581",
- "CHEBI:24431",
- "GO:0008152",
- "CHEBI:51143",
"CHEBI:36962",
- "UBERON:0001088",
- "UPHENO:0048707",
- "CHEBI:55370",
- "UBERON:0004769",
- "GO:0042592",
- "UPHENO:0075902",
- "CHEBI:23367",
- "CHEBI:33302",
- "CHEBI:33595",
- "UPHENO:0051739",
- "UPHENO:0002650",
- "BFO:0000020",
- "HP:0003110",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0000541",
- "UPHENO:0004503",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UPHENO:0078550",
+ "HP:0045049",
+ "HP:0012337",
+ "CHEBI:35352",
+ "GO:0032501",
+ "HP:0001942",
+ "HP:0002088",
"HP:0001941",
- "UPHENO:0082539",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0001510",
- "UBERON:0002390",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0030878",
+ "MPATH:31",
+ "UBERON:0000075",
"UPHENO:0002532",
- "BFO:0000040",
- "HP:0040068",
- "HP:0000001",
- "UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UPHENO:0068472",
- "UBERON:0000026",
- "HP:0001992",
- "UPHENO:0031166",
- "CHEBI:33256",
- "UPHENO:0068251",
- "UPHENO:0004505",
- "CHEBI:5686",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "BFO:0000001",
- "UPHENO:0002568",
- "UBERON:0034925",
- "UBERON:0011143",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0000543",
- "UPHENO:0002746",
- "UPHENO:0002442",
- "CHEBI:23443",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UBERON:0002204",
- "UBERON:0000465",
- "UBERON:0001008",
- "CHEBI:24995",
- "CHEBI:37622",
- "HP:0003259",
- "UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "HP:0012100",
- "HP:0012591",
- "CHEBI:25806",
- "UPHENO:0077817",
- "UPHENO:0046284",
- "CHEBI:33582",
- "UPHENO:0031142",
- "HP:0032943",
- "UPHENO:0068346",
- "UBERON:0001015",
- "UPHENO:0004459",
- "UPHENO:0002754",
- "CHEBI:33661",
- "HP:0004360",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0051804",
- "UPHENO:0031228",
- "CHEBI:33579",
- "UPHENO:0068352",
- "UPHENO:0068442",
- "GO:0008150",
- "CHEBI:36357",
- "UPHENO:0082834",
- "HP:0430071",
- "PATO:0000001",
- "UPHENO:0069266",
- "HP:0011842",
- "CHEBI:33675",
- "UPHENO:0052038",
- "UBERON:0001977",
+ "UPHENO:0002750",
+ "UPHENO:0068054",
+ "CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0086635",
+ "UPHENO:0002679",
+ "MPATH:14",
+ "UPHENO:0003070",
+ "UPHENO:0002885",
+ "HP:0011844",
+ "UBERON:0034944",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "UPHENO:0005201",
+ "UPHENO:0002593",
+ "HP:0032581",
+ "UPHENO:0002530",
+ "UPHENO:0086628",
"UPHENO:0002830",
- "CHEBI:50860",
- "HP:0032180",
- "UPHENO:0002525",
- "UPHENO:0051763",
- "UBERON:0011582",
- "UPHENO:0051630",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:33304",
- "CHEBI:35352",
- "UPHENO:0076286",
- "UBERON:0002193",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003049",
- "CHEBI:26082",
+ "UPHENO:0076740",
+ "UPHENO:0076767",
+ "UPHENO:0003516",
+ "HP:0002857",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "UPHENO:0031228",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0002979",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UPHENO:0086908",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "HP:0034669",
+ "UBERON:0000026",
+ "UBERON:0000467",
+ "CHEBI:33582",
+ "UBERON:0034925",
+ "UPHENO:0002632",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0003094",
+ "UPHENO:0031220",
+ "CHEBI:23367",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0003840",
+ "CHEBI:24833",
+ "UBERON:0010712",
"CHEBI:35381",
- "HP:0003109",
- "HP:0000077",
- "UPHENO:0005214",
- "UPHENO:0051900",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "HP:0011277",
- "UBERON:0000489",
+ "UBERON:0011249",
+ "UBERON:0015061",
+ "UBERON:0034921",
+ "HP:0012210",
+ "CHEBI:33256",
+ "UBERON:0000468",
+ "UBERON:0004905",
+ "UPHENO:0002585",
+ "UPHENO:0041536",
+ "CHEBI:33674",
+ "UBERON:0000483",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "HP:0030972",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0003657",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "HP:0004912",
+ "CHEBI:32988",
+ "UPHENO:0003005",
+ "HP:0003330",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UBERON:0001008",
+ "HP:0001367",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0003227",
+ "UPHENO:0041591",
+ "UBERON:0004288",
+ "UPHENO:0031142",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UBERON:0002075",
+ "HP:0011314",
+ "CHEBI:33238",
+ "HP:0006487",
+ "UPHENO:0087993",
+ "CHEBI:24867",
+ "UPHENO:0031271",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "HP:0012575",
+ "UPHENO:0002600",
"UPHENO:0068110",
- "CHEBI:26079",
- "HP:0012599",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UPHENO:0002816",
+ "UPHENO:0051709",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "GO:0001503",
+ "UPHENO:0051763",
+ "UBERON:0008784",
"HP:0000079",
- "UPHENO:0002269",
- "CHEBI:37577",
+ "UBERON:0000383",
+ "UBERON:0005913",
+ "UPHENO:0002746",
+ "UPHENO:0003066",
+ "CHEBI:50047",
"HP:0000924",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "UBERON:0000982",
+ "BFO:0000003",
+ "UPHENO:0087433",
+ "UPHENO:0002870",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0004769",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0076727",
"HP:0033127",
- "UPHENO:0003411",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
+ "HP:0033354",
+ "UBERON:0002471",
+ "UBERON:0005177",
+ "UPHENO:0076703",
+ "UPHENO:0002832",
"UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0076692",
- "GO:0032501",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0002949",
- "UBERON:0004288",
- "UPHENO:0076740",
+ "UPHENO:0002559",
+ "UPHENO:0081544",
+ "UPHENO:0076714",
"UPHENO:0003432",
- "UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0000174",
- "CHEBI:36360",
- "UBERON:0010000",
+ "UBERON:0010363",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "UPHENO:0002734",
"UBERON:0001474",
+ "UBERON:0001005",
+ "UBERON:0000025",
"UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000062",
- "UPHENO:0002964",
- "UBERON:0001434",
- "HP:0002981",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UPHENO:0068064",
- "CHEBI:33832",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002785",
- "HP:0000119",
- "UPHENO:0086635",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0003005",
- "UBERON:0002471",
- "HP:0006487",
- "UPHENO:0031122",
+ "UBERON:0004765",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0004770",
+ "HP:0011842",
+ "UPHENO:0002636",
+ "UBERON:0010709",
+ "UPHENO:0002783",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "GO:0008152",
+ "HP:0001939",
+ "CHEBI:72695",
+ "UPHENO:0081581",
+ "HP:0002815",
+ "UPHENO:0004536",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "UBERON:0001009",
+ "UBERON:0002193",
+ "UPHENO:0076294",
+ "UBERON:0002204",
+ "HP:0002206",
+ "CHEBI:36360",
+ "HP:0004348",
+ "HP:0002795",
+ "UPHENO:0002267",
+ "UPHENO:0003413",
+ "BFO:0000001",
+ "UPHENO:0002574",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "UPHENO:0002269",
+ "UPHENO:0082835",
+ "CHEBI:15841",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "UBERON:0005181",
+ "UPHENO:0002448",
"UPHENO:0031318",
- "UBERON:0010363",
- "CHEBI:38304",
- "UPHENO:0002600",
- "UBERON:0004375",
- "UBERON:0004708",
- "UPHENO:0003799",
- "HP:0000940",
- "UBERON:0005173",
- "UBERON:0004381",
+ "UPHENO:0041098",
+ "UBERON:0000475",
+ "UPHENO:0002531",
+ "UBERON:0002048",
+ "CHEBI:37622",
+ "CHEBI:33302",
+ "UBERON:0013701",
"UBERON:0015212",
- "UBERON:0002529",
- "UPHENO:0041591",
- "UBERON:0003823",
+ "HP:0032180",
+ "UPHENO:0003025",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0084763",
+ "UPHENO:0002526",
+ "UPHENO:0031302",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0041573",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0051739",
+ "UBERON:0001558",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "HP:0000940",
"UPHENO:0080300",
- "UPHENO:0002896",
- "UPHENO:0002648",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UBERON:0000064",
- "UBERON:0011249",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "CHEBI:38261",
- "UPHENO:0003812",
- "UPHENO:0004909",
+ "UPHENO:0002785",
+ "UBERON:0000915",
+ "CHEBI:15693",
+ "UPHENO:0076299",
+ "UBERON:0004537",
+ "UBERON:0011676",
+ "CHEBI:36359",
+ "UBERON:0002091",
+ "UPHENO:0002668",
+ "UBERON:0000061",
"UBERON:0000178",
- "UPHENO:0002632",
- "CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0000154",
- "UPHENO:0003516",
+ "UBERON:0004119",
+ "UPHENO:0003812",
+ "CHEBI:33304",
+ "UPHENO:0002568",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "HP:0011793",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "UPHENO:0075902",
+ "UPHENO:0076692",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0011849",
+ "GO:0008150",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "HP:0006530",
+ "BFO:0000002",
+ "CHEBI:24651",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
"UPHENO:0003095",
- "UPHENO:0076727",
- "UBERON:0006058",
- "UPHENO:0051894",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
+ "UBERON:0000463",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UPHENO:0002949",
+ "HP:0004349",
+ "CHEBI:64709",
+ "UBERON:0002049",
+ "UPHENO:0002964",
+ "UBERON:0004708",
+ "UBERON:0000065",
+ "BFO:0000004",
+ "UBERON:0000489",
+ "CHEBI:26020",
+ "UPHENO:0051960",
+ "UBERON:0002513",
+ "GO:0009987",
+ "UPHENO:0084653",
+ "UBERON:0001088",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0002390",
+ "UPHENO:0087462",
+ "UPHENO:0002859",
+ "UPHENO:0031166",
+ "CHEBI:33675",
+ "UPHENO:0002648",
+ "HP:0100491",
+ "UBERON:0002100",
+ "UPHENO:0002643",
+ "UBERON:0000179",
+ "UBERON:0010000",
+ "UPHENO:0002803",
+ "UPHENO:0046284",
+ "CHEBI:51143",
+ "UPHENO:0003065",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "UPHENO:0003084",
"CHEBI:33917",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "HP:0002814",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0041610",
+ "CHEBI:26079",
+ "UPHENO:0002246",
+ "HP:0003111",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "UPHENO:3000003",
+ "UPHENO:0002411",
+ "UPHENO:0049904",
+ "HP:0030760",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
+ "UPHENO:0066739",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0003015",
+ "UPHENO:0002963",
],
"has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
+ "Neoplasm of the lung",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "Lung adenocarcinoma",
+ "Non-small cell lung carcinoma",
+ "cardiovascular system",
+ "circulatory system",
+ "blood vessel",
+ "blood vasculature",
+ "Increased blood pressure",
+ "vascular system",
+ "Hypertension",
+ "vessel",
+ "cardiovascular system phenotype",
"abdomen element physiology phenotype",
"multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
- "cavitated compound organ",
- "abdominal segment element",
- "abdomen",
"cavitated compound organ physiology phenotype",
- "compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
+ "Renal insufficiency",
+ "Stage 5 chronic kidney disease",
+ "organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "abdominal segment element phenotype",
+ "upper urinary tract phenotype",
+ "nephron tubule",
+ "abdomen",
+ "epithelial tube",
+ "excretory tube phenotype",
+ "kidney",
+ "upper urinary tract",
+ "nephron morphology phenotype",
+ "nephron tubule morphology phenotype",
+ "Tubulointerstitial fibrosis",
+ "abdomen element",
+ "neoplasm phenotype",
+ "hindlimb",
+ "zone of bone organ",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "bone element, curved phenotype",
+ "renal system morphology phenotype",
+ "excretory tube",
+ "tissue",
+ "organic acid",
+ "nephron tubule phenotype",
+ "kidney epithelium phenotype",
+ "increased level of organic acid in urine",
+ "organic oxo compound",
+ "pelvic appendage phenotype",
+ "urine amino acid level phenotype",
+ "carbon oxoacid",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "nephron epithelium phenotype",
+ "molecule",
+ "amino acid level phenotype",
+ "pathological phenotype observation",
+ "emphysema",
+ "Abnormality of bone mineral density",
+ "oxoacid",
+ "cell and tissue damage process",
+ "tube phenotype",
+ "endochondral bone",
+ "pathological process",
+ "pathological entity",
"urine glucose level phenotype",
- "Glycosuria",
+ "cavitated compound organ phenotype",
+ "carbohydrate",
"Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
+ "homeostatic process",
+ "polypeptide",
+ "increased level of chemical entity",
+ "Proteinuria",
+ "curved anatomical entity",
+ "cavitated compound organ",
+ "peptide",
+ "organic amino compound",
+ "urine",
+ "genitourinary system phenotype",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "ossification",
+ "protein polypeptide chain",
+ "abdomen element phenotype",
+ "heteroorganic entity",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "nitrogen molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "Decreased DLCO",
+ "nephron epithelium",
+ "compound organ physiology phenotype",
+ "Acidosis",
+ "Abnormality of acid-base homeostasis",
+ "Abnormal respiratory system physiology",
+ "excreta",
+ "tube",
+ "Metabolic acidosis",
"lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal system phenotype",
+ "lateral structure physiology phenotype",
+ "Abnormal homeostasis",
+ "hydroxides",
+ "Hyperchloremic metabolic acidosis",
+ "material entity",
+ "leg",
+ "abdominal segment element",
+ "hindlimb zeugopod morphology phenotype",
+ "limb",
+ "subdivision of organism along appendicular axis",
+ "Bowing of the legs",
+ "increased urine role level",
"bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
+ "limb skeleton subdivision phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "Abnormality of the lower limb",
+ "Emphysema",
"appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
"renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
+ "curvature anatomical entity",
"zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "anatomical conduit phenotype",
"Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
+ "hindlimb joint phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "articular system",
+ "limb segment phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "Hyperchloremic acidosis",
+ "knee morphology phenotype",
+ "articulation",
+ "macromolecule",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "viscus",
+ "paired limb/fin skeleton",
+ "carboxamide",
"lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormality of lower limb joint",
+ "shape hindlimb zeugopod",
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "anatomical cluster",
+ "multi organ part structure",
+ "leg phenotype",
+ "multi organ part structure phenotype",
+ "limb endochondral element phenotype",
+ "respiratory system physiology phenotype",
+ "skeletal joint phenotype",
+ "subdivision of skeleton phenotype",
+ "zeugopod, curved phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "uriniferous tubule",
+ "skeleton of limb",
+ "pelvic appendage",
+ "limb joint",
+ "process of degenerative change",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Abnormal bone structure",
+ "Abnormality on pulmonary function testing",
"endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
+ "decreased level of phosphate in blood",
+ "renal tubule",
+ "limb segment, curved phenotype",
+ "carbonyl compound",
+ "nephron",
+ "appendage phenotype",
+ "kidney epithelium morphology phenotype",
+ "knee",
+ "chemical entity",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "skeletal joint",
+ "carboxylic acid",
+ "long bone",
+ "skeleton",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "phosphate level phenotype",
+ "limb skeleton subdivision",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "organism subdivision, curved phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
"limb bone",
+ "increased level of monosaccharide in urine",
+ "subdivision of organism along main body axis",
+ "organonitrogen compound",
+ "phosphorus oxoacid derivative",
+ "shape of continuant phenotype",
+ "Abnormality of the knee",
+ "respiration organ",
+ "limb bone morphology phenotype",
+ "continuant",
+ "increased level of glucose in urine",
+ "disconnected anatomical group",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "skeletal system",
+ "musculature of body phenotype",
+ "musculoskeletal system",
+ "Glycosuria",
+ "Abnormal limb bone morphology",
+ "Abnormal long bone morphology",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "multicellular organism chemical entity level phenotype",
+ "endochondral bone phenotype",
+ "aldose",
"organism substance phenotype",
+ "organ system subdivision",
+ "hindlimb joint",
+ "cardiovascular system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "curved long bone",
+ "shape long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
+ "Decreased anatomical entity mass density",
"subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
+ "Abnormality of the skeletal system",
+ "Renal fibrosis",
+ "Abnormal bone ossification",
+ "primary amide",
+ "Rickets",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "occurrent",
+ "subdivision of tube",
+ "anatomical structure phenotype",
+ "respiratory tract",
"chemical entity level phenotype",
+ "paired limb/fin phenotype",
+ "epithelium",
+ "anatomical collection phenotype",
+ "kidney epithelium",
"anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
+ "trunk phenotype",
+ "lateral structure phenotype",
+ "trunk",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "Abnormal renal tubule morphology",
+ "Abnormal cardiovascular system physiology",
"molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
+ "anatomical structure physiology phenotype",
+ "system",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multi-limb segment region phenotype",
+ "Abnormal skeletal morphology",
+ "thoracic segment of trunk",
+ "organ part",
+ "limb phenotype",
+ "role urine level phenotype",
+ "Pulmonary fibrosis",
+ "excretory system",
+ "Abnormality of the urinary system",
+ "phosphate",
+ "subdivision of skeletal system",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
+ "Hypophosphatemic rickets",
+ "process",
+ "respiration organ phenotype",
+ "Abnormal systemic blood pressure",
+ "bone element phenotype",
"haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
+ "viscus phenotype",
+ "lower respiratory tract",
+ "lung morphology phenotype",
+ "posterior region of body",
+ "main body axis",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "genitourinary system",
+ "thoracic cavity element",
+ "p-block molecular entity",
+ "bone of appendage girdle complex phenotype",
+ "taxon specific phenotype",
+ "respiratory system",
+ "endoderm-derived structure",
+ "material anatomical entity physiology phenotype",
+ "decreased level of chemical entity in blood",
+ "organ part phenotype",
+ "Decreased bone element mass density",
+ "hindlimb zeugopod",
"body proper",
+ "Chronic kidney disease",
"entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
+ "paired limb/fin segment phenotype",
+ "oxoacid derivative",
+ "monosaccharide",
+ "thoracic segment organ",
+ "limb bone phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "blood phosphate level phenotype",
+ "lung phenotype",
+ "articulation phenotype",
"organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "Abnormality of the upper urinary tract",
+ "Abnormal joint morphology",
"zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
+ "All",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "appendage",
+ "organism subdivision phenotype",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "subdivision of organism along main body axis phenotype",
+ "knee phenotype",
+ "Abnormal pulmonary interstitial morphology",
+ "homeostatic process phenotype",
+ "bone element",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "limb endochondral element",
+ "musculature",
+ "Abnormality of the urinary system physiology",
"limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
+ "subdivision of trunk",
+ "zone of organ",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "renal system",
+ "Abnormality of the kidney",
+ "Abnormal DLCO",
+ "Abnormal blood phosphate concentration",
+ "trunk region element",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "anatomical entity fibrosis",
+ "tissue specific degenerative process",
+ "hexose",
+ "amide",
+ "Abnormal renal insterstitial morphology",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, curved phenotype",
+ "independent continuant",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "blood monoatomic ion level phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of metabolism/homeostasis",
+ "tissue phenotype",
+ "respiratory airway",
+ "lung",
+ "Abnormality of the cardiovascular system",
+ "glucose",
+ "pair of lungs",
+ "skeletal joint morphology phenotype",
+ "organ phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "Abnormal tubulointerstitial morphology",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
+ "multicellular anatomical structure, curved phenotype",
"polyatomic entity",
- "Abnormality of body height",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "blood",
"haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
- "excretory system",
+ "Abnormal respiratory system morphology",
+ "material anatomical entity phenotype",
"biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
- "phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
+ "abdominal segment element physiology phenotype",
+ "ion",
"phosphorus oxoacids and derivatives",
- "anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "organ",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "monoatomic entity",
"musculature phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "organic heteromonocyclic compound",
- "musculature of body",
+ "anatomical structure",
+ "compound organ phenotype",
+ "anatomical entity",
+ "musculoskeletal system phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "skeleton phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "Abnormal knee morphology",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "hemolymphoid system",
+ "thoracic cavity element phenotype",
+ "cellular process",
+ "abdominal segment of trunk",
+ "paired limb/fin segment, curved phenotype",
+ "hindlimb phenotype",
"blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "skeletal system phenotype",
+ "multicellular anatomical structure",
+ "compound organ",
"bone element mass density phenotype",
- "skeleton",
- "organ phenotype",
- "ossification",
- "zeugopod phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
- "organ part",
- "chalcogen molecular entity",
- "zone of bone organ",
+ "main group molecular entity",
"bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
+ "Genu valgum",
+ "endoderm-derived structure phenotype",
+ "Abnormal nephron morphology",
+ "lung fibrosis",
+ "phosphorus molecular entity",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "aldohexose",
+ "Neoplasm by anatomical site",
+ "Abnormal urine metabolite level",
+ "Abnormal lung morphology",
],
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0014275",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi renotubular syndrome 3",
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
+ "xref": ["DOID:0080759", "GARD:15991", "MEDGEN:816430", "OMIM:615605", "UMLS:C3810100"],
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome",
- ],
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH",
+ ],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0003259",
"HP:0001942",
- "HP:0002148",
- "HP:0000124",
+ "HP:0001510",
"HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
"HP:0002748",
- "HP:0034359",
+ "HP:0002979",
"HP:0003076",
- "HP:0003155",
"HP:0000083",
- "HP:0003355",
"HP:0004322",
+ "HP:0003355",
"HP:0003126",
- "HP:0001324",
],
"has_phenotype_label": [
+ "Elevated circulating creatinine concentration",
"Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
+ "Growth delay",
"Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
"Rickets",
- "Impaired renal tubular reabsorption of phosphate",
+ "Bowing of the legs",
"Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
"Renal insufficiency",
- "Aminoaciduria",
"Short stature",
+ "Aminoaciduria",
"Low-molecular-weight proteinuria",
- "Muscle weakness",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 11,
"has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
"HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:33839",
"HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
+ "UPHENO:0068565",
+ "HP:0025745",
+ "HP:0003355",
+ "UPHENO:0068169",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
"CHEBI:33575",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
"UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
+ "UPHENO:0069254",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0002422",
+ "UPHENO:0003025",
+ "UPHENO:0002426",
+ "UBERON:0005173",
"HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
- "UPHENO:0003413",
- "UPHENO:0002963",
+ "HP:0000083",
+ "UBERON:0005172",
+ "UBERON:0000916",
"UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
+ "UBERON:0002113",
+ "UBERON:0002100",
+ "HP:0010935",
+ "UBERON:0009569",
+ "UPHENO:0075902",
+ "UPHENO:0089294",
"UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
+ "HP:6000531",
+ "CHEBI:17234",
+ "UBERON:0013702",
+ "CHEBI:15693",
+ "CHEBI:18133",
+ "CHEBI:16646",
"HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
- "GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
- "HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
- "UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
- "UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
+ "UPHENO:0002750",
+ "UPHENO:0003070",
+ "HP:0011844",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "UPHENO:0086628",
+ "UPHENO:0076740",
+ "UBERON:0004375",
+ "UBERON:0003103",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0034925",
"UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
+ "UPHENO:0002926",
+ "UPHENO:0002648",
+ "UPHENO:0002650",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "HP:0002813",
+ "UPHENO:0031228",
+ "UPHENO:0002785",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "CHEBI:15841",
+ "UBERON:0000064",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0031220",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0010712",
+ "UBERON:0011249",
+ "UPHENO:0041536",
+ "CHEBI:33674",
+ "HP:0002814",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
"UPHENO:0002386",
- "CHEBI:33238",
+ "UPHENO:0031123",
+ "CHEBI:35381",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UBERON:0000075",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "UPHENO:0031302",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UPHENO:0068491",
+ "UBERON:0010709",
+ "UBERON:0010707",
+ "UPHENO:0069266",
+ "UPHENO:0003227",
+ "UBERON:0004288",
+ "UPHENO:0002830",
"UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
+ "UPHENO:0002896",
+ "UPHENO:0031142",
+ "HP:0011314",
+ "UPHENO:0084763",
+ "UPHENO:0002427",
+ "UPHENO:0005214",
+ "UBERON:0004708",
+ "HP:0000924",
+ "UBERON:0034944",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "UPHENO:0002600",
+ "UPHENO:0031276",
+ "UPHENO:0068110",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "HP:0000940",
+ "UPHENO:0080300",
+ "UPHENO:0003516",
+ "HP:0004348",
+ "UPHENO:0002976",
+ "UPHENO:0002377",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
+ "HP:0011842",
"UPHENO:0082834",
- "UBERON:0000475",
+ "BFO:0000003",
+ "UPHENO:0002870",
+ "UBERON:0001015",
+ "BFO:0000040",
+ "HP:0033127",
+ "UPHENO:0002832",
+ "HP:0000118",
+ "UPHENO:0076286",
+ "UPHENO:0005092",
+ "UPHENO:0002559",
+ "UPHENO:0081544",
+ "UPHENO:0003432",
+ "UPHENO:0002526",
+ "HP:0032180",
"UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
+ "UPHENO:0002267",
"HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
"HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
+ "HP:0002748",
+ "HP:0003110",
+ "UBERON:0000174",
+ "UBERON:0011676",
+ "UBERON:0002091",
+ "CHEBI:36359",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "HP:0000079",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UBERON:0005177",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0002530",
+ "UBERON:0001088",
"UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
+ "UPHENO:0046348",
+ "HP:0000077",
+ "CHEBI:37577",
+ "CHEBI:23443",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UPHENO:0031271",
+ "UPHENO:0002803",
+ "UPHENO:0068054",
+ "UPHENO:0086635",
"HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
+ "UPHENO:0002642",
+ "UPHENO:0003413",
+ "UPHENO:0000543",
+ "UBERON:0010363",
+ "UPHENO:0084654",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0012337",
"CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
+ "HP:0001942",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0001941",
+ "UBERON:0004769",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "UPHENO:0041591",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "BFO:0000001",
+ "UBERON:0002513",
+ "GO:0009987",
"UPHENO:0084653",
- "HP:0012337",
+ "CHEBI:36963",
+ "UBERON:0001434",
+ "UPHENO:0003005",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "HP:0012591",
+ "CHEBI:33579",
+ "UPHENO:0075195",
+ "UPHENO:0002360",
+ "GO:0008150",
+ "UPHENO:0002861",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0003812",
+ "CHEBI:33661",
+ "UPHENO:0002385",
+ "UPHENO:0004459",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0068049",
+ "UPHENO:0068442",
+ "UPHENO:0003088",
+ "UPHENO:0041573",
+ "UPHENO:0089764",
+ "UPHENO:0002949",
+ "UPHENO:0076285",
+ "HP:0002979",
+ "UPHENO:0002632",
+ "HP:0430071",
+ "CHEBI:33582",
+ "UBERON:0002193",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "CHEBI:24833",
+ "CHEBI:33670",
+ "CHEBI:25367",
+ "CHEBI:38261",
+ "BFO:0000002",
+ "CHEBI:36587",
+ "UPHENO:0002593",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "HP:0003259",
+ "CHEBI:33595",
+ "UPHENO:0001001",
"UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
+ "UPHENO:0081423",
+ "UPHENO:0003095",
+ "UBERON:0000463",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0001062",
+ "UBERON:0002529",
+ "UPHENO:0068251",
+ "HP:0004364",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "GO:0001503",
+ "UBERON:0000026",
+ "UPHENO:0079534",
+ "CHEBI:24532",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0082539",
+ "HP:0006487",
+ "CHEBI:33304",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UPHENO:0002536",
+ "CHEBI:38304",
+ "CHEBI:33302",
+ "UBERON:0005913",
"HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
+ "CHEBI:64709",
+ "UBERON:0000489",
+ "GO:0042592",
+ "UPHENO:0002964",
+ "UPHENO:0002731",
+ "HP:0012100",
+ "CHEBI:24431",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0006314",
+ "UPHENO:0001003",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "HP:0002157",
+ "UPHENO:0002532",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UBERON:0004765",
+ "UPHENO:0068346",
+ "UPHENO:0003094",
+ "UPHENO:0003065",
+ "CHEBI:51143",
+ "BFO:0000004",
+ "CHEBI:78616",
+ "UPHENO:0082536",
+ "UBERON:0002390",
+ "CHEBI:5686",
+ "HP:0001510",
"UPHENO:0082835",
+ "CHEBI:55370",
+ "UPHENO:0051686",
+ "CHEBI:24651",
+ "UPHENO:0002246",
+ "UBERON:0010538",
+ "CHEBI:36360",
+ "UPHENO:0002909",
+ "UPHENO:0000541",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "CHEBI:37622",
+ "UPHENO:0076692",
+ "UPHENO:0051630",
+ "CHEBI:24995",
+ "CHEBI:35605",
+ "UPHENO:0052038",
+ "UPHENO:0031166",
+ "UPHENO:0002554",
+ "CHEBI:72695",
+ "CHEBI:16737",
+ "CHEBI:25806",
+ "UBERON:0008784",
"HP:0003330",
- "UPHENO:0002964",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "UPHENO:0002585",
+ "CHEBI:33256",
+ "UBERON:0001977",
+ "UBERON:0000475",
+ "UPHENO:0041098",
+ "GO:0032501",
+ "UBERON:0002204",
+ "UPHENO:0068064",
+ "CHEBI:26020",
+ "UPHENO:0002411",
+ "UBERON:0000179",
+ "UPHENO:0068472",
+ "UBERON:0001969",
+ "HP:0000001",
+ "UPHENO:0077826",
+ "UBERON:0000468",
+ "UBERON:0000178",
+ "UPHENO:0051894",
+ "UBERON:0011143",
+ "CHEBI:25693",
+ "UPHENO:0031318",
+ "UPHENO:0051900",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0000119",
+ "HP:0011849",
+ "UPHENO:0004505",
+ "UPHENO:0049904",
+ "UPHENO:0078550",
+ "CHEBI:38101",
+ "UBERON:0000061",
+ "CHEBI:33241",
+ "UBERON:0000467",
+ "UPHENO:0002963",
+ "UPHENO:0002308",
+ "UPHENO:0068352",
+ "UPHENO:0051763",
+ "CHEBI:33832",
],
"has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
+ "Proteinuria",
+ "Abnormal urine protein level",
"protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
+ "increased level of organic acid in urine",
+ "organic oxo compound",
"urine amino acid level phenotype",
- "carbonyl compound",
"carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
+ "s-block molecular entity",
"hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
+ "amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "abdomen element physiology phenotype",
"multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
+ "multicellular organism height phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "Abnormality of the kidney",
+ "trunk",
+ "compound organ physiology phenotype",
+ "upper urinary tract",
+ "subdivision of trunk",
"subdivision of organism along main body axis phenotype",
+ "cavitated compound organ phenotype",
+ "abdomen element",
"abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
+ "peptide",
"cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
+ "kidney phenotype",
+ "compound organ phenotype",
+ "lateral structure physiology phenotype",
+ "compound organ",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "urine glucose level phenotype",
+ "carbohydrate",
"organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
+ "role urine level phenotype",
+ "glucose",
+ "aldohexose",
+ "Abnormal urinary organic compound level",
+ "leg",
+ "abdominal segment element",
+ "limb",
+ "limb segment",
+ "zone of organ",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "anatomical collection phenotype",
+ "Bowing of the legs",
+ "bone of free limb or fin phenotype",
+ "increased level of protein polypeptide chain in urine",
+ "appendicular skeleton phenotype",
+ "hindlimb morphology phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Abnormality of the calf",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "zone of bone organ",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "abdominal segment of trunk",
+ "subdivision of organism along appendicular axis phenotype",
+ "decreased size of the material anatomical entity",
+ "limb segment phenotype",
+ "limb morphology phenotype",
+ "subdivision of skeletal system",
+ "carbohydrates and carbohydrate derivatives",
"organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
+ "lateral structure",
+ "macromolecule",
+ "Abnormality of limb bone",
+ "bone element, curved phenotype",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "limb endochondral element phenotype",
+ "lower limb segment, curved phenotype",
+ "anatomical entity morphology in the pelvic complex phenotype",
"cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
+ "Abnormal appendicular skeleton morphology",
+ "shape hindlimb zeugopod",
"body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
+ "hindlimb zeugopod",
+ "main body axis",
+ "posterior region of body",
+ "anatomical collection",
"abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
+ "leg phenotype",
+ "subdivision of skeleton phenotype",
+ "trunk phenotype",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "skeleton of limb",
+ "curvature anatomical entity",
+ "endochondral bone",
+ "appendicular skeleton morphology phenotype",
+ "long bone phenotype",
+ "bone of appendage girdle complex",
+ "zeugopod, curved phenotype",
+ "endochondral element phenotype",
+ "limb segment, curved phenotype",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod morphology phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "organ, curved phenotype",
+ "limb bone",
+ "pelvic appendage phenotype",
+ "increased level of monosaccharide in urine",
+ "phosphorus oxoacid derivative",
+ "organonitrogen compound",
+ "shape of continuant phenotype",
+ "curved anatomical entity",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "heteroatomic molecular entity",
+ "Reduced bone mineral density",
+ "homeostatic process phenotype",
+ "bone element",
+ "abdomen",
+ "increased urine role level",
"musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
+ "Abnormality of bone mineral density",
+ "Glycosuria",
+ "Abnormal long bone morphology",
+ "skeletal system",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "multicellular organism chemical entity level phenotype",
+ "lactam",
+ "endochondral bone phenotype",
+ "aldose",
+ "appendicular skeleton",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "shape long bone",
+ "organ system subdivision",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "multi-limb segment region phenotype",
+ "Aminoaciduria",
+ "musculature",
+ "trunk region element phenotype",
+ "zone of long bone",
+ "organism subdivision phenotype",
+ "All",
+ "skeletal element phenotype",
+ "bone element phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "Abnormal urine phosphate concentration",
"anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "genitourinary system",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "excretory system",
+ "phosphate",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
"anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
+ "urine",
+ "genitourinary system phenotype",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "curved long bone",
+ "phosphorus molecular entity",
+ "Abnormality of the genitourinary system",
"material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
+ "Abnormal homeostasis",
+ "Abnormal circulating nitrogen compound concentration",
+ "renal system phenotype",
+ "renal system",
+ "bone of appendage girdle complex phenotype",
+ "Abnormal bone structure",
+ "hematopoietic system phenotype",
+ "biological_process",
+ "renal/urinary system phenotype",
+ "Decreased bone element mass density",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "oxoacid derivative",
+ "limb bone morphology phenotype",
"urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
+ "pelvic appendage",
+ "delayed growth",
+ "growth",
+ "Growth delay",
+ "system",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "delayed biological_process",
+ "organism subdivision",
+ "growth phenotype",
+ "Abnormality of acid-base homeostasis",
+ "limb phenotype",
+ "appendage girdle complex",
+ "phosphorus oxoacids and derivatives",
+ "excreta",
+ "Metabolic acidosis",
+ "blood serum",
+ "blood plasma",
+ "cyclic compound",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
"Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
+ "limb skeleton subdivision phenotype",
+ "organic molecule",
+ "independent continuant",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "carboxylic acid",
+ "limb skeleton subdivision",
+ "blood chemical entity level phenotype",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "process",
+ "phosphate level phenotype",
+ "occurrent",
+ "increased level of creatinine in blood serum",
+ "increased level of chemical entity in bodily fluid",
"biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
+ "polypeptide",
+ "role bodily fluid level phenotype",
+ "role blood level phenotype",
+ "imidazolidines",
+ "organ phenotype",
+ "homeostatic process",
"lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
+ "diazolidine",
+ "cyclic amide",
+ "phosphoric acid derivative",
+ "hindlimb",
+ "appendage",
+ "bodily fluid",
+ "organooxygen compound",
+ "organic molecular entity",
+ "Rickets",
+ "primary amide",
+ "size of anatomical entity phenotype",
"blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
+ "haemolymphatic fluid",
+ "Abnormal bone ossification",
+ "material anatomical entity",
+ "organochalcogen compound",
+ "increased level of chemical entity in blood plasma",
+ "Renal insufficiency",
+ "increased level of creatinine in blood",
+ "increased bodily fluid role level",
+ "musculature of body phenotype",
+ "Abnormality of the musculoskeletal system",
+ "carboxamide",
+ "long bone",
"multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
+ "oxygen molecular entity",
+ "nitrogen molecular entity",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "musculoskeletal system phenotype",
+ "Acidosis",
+ "blood plasma chemical entity level phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "increased level of chemical entity in blood serum",
+ "heterocyclic compound",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "chalcogen molecular entity",
+ "creatinine",
+ "appendicular skeletal system",
+ "phenotype",
+ "role blood serum level phenotype",
+ "increased level of chemical entity in urine",
"skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
+ "decreased height of the anatomical entity",
+ "abdomen element phenotype",
+ "increased blood role level",
+ "heteroorganic entity",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "increased level of phosphate in urine",
+ "metabolic process",
+ "carbon group molecular entity",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "Azotemia",
+ "organonitrogen heterocyclic compound",
+ "organic heterocyclic compound",
+ "musculature phenotype",
+ "anatomical structure",
+ "blood oxygen molecular entity level phenotype",
+ "carbonyl compound",
+ "appendage phenotype",
+ "Elevated circulating creatinine concentration",
+ "organic cyclic compound",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "increased blood serum role level",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "organic amino compound",
+ "increased level of nitrogen molecular entity in blood",
+ "heteromonocyclic compound",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "oxoacid",
+ "blood serum chemical entity level phenotype",
+ "decreased size of the multicellular organism",
"p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "blood organic molecular entity level phenotype",
+ "paired limb/fin phenotype",
+ "chemical entity level phenotype",
+ "anatomical structure phenotype",
+ "Abnormality of the lower limb",
+ "multicellular anatomical structure phenotype",
+ "imidazolidinone",
+ "trunk region element physiology phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "zeugopod",
+ "renal system physiology phenotype",
+ "bone of free limb or fin",
+ "monocyclic compound",
+ "hindlimb phenotype",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "molecule",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "entity",
+ "Abnormal circulating creatinine concentration",
+ "Low-molecular-weight proteinuria",
"ossification",
- "carbohydrate",
- "skeletal system",
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "Abnormal urinary electrolyte concentration",
+ "Growth abnormality",
+ "organic acid",
+ "taxon specific phenotype",
+ "increased level of chemical entity",
+ "anatomical system phenotype",
+ "blood creatinine level phenotype",
+ "skeleton",
+ "organism substance",
+ "anatomical entity",
+ "Abnormal urine amino acid level",
+ "organic heteromonocyclic compound",
+ "anatomical system physiology phenotype",
+ "increased level of chemical entity in blood",
+ "nitrogen molecular entity level phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "cellular process",
+ "paired limb/fin segment, curved phenotype",
+ "haemolymphatic fluid phenotype",
],
},
{
- "id": "MONDO:0100238",
- "category": "biolink:Disease",
- "name": "inherited Fanconi renotubular syndrome",
- "description": "An instance of Fanconi renotubular syndrome that is inherited.",
- "provided_by": "phenio_nodes",
- "xref": ["OMIMPS:134600"],
- "synonym": ["hereditary Fanconi renotubular syndrome"],
- "namespace": "MONDO",
- "has_phenotype_count": 0,
- },
- {
- "id": "MONDO:0030056",
+ "id": "MONDO:0024525",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 5",
+ "name": "Fanconi renotubular syndrome 1",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0080761", "GARD:16392", "MEDGEN:1711127", "OMIM:618913", "UMLS:C5394473"],
+ "xref": ["DOID:0080757", "MEDGEN:1635492", "OMIM:134600", "UMLS:C4551503"],
"synonym": [
- "FANCONI RENOTUBULAR SYNDROME 5",
- "FRTS5",
- "Fanconi Renotubular Syndrome, Acadian Variant",
- "Fanconi renotubular syndrome 5",
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome",
],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001942",
"HP:0002148",
- "HP:0002206",
- "HP:0004912",
- "HP:0002857",
- "HP:0004918",
- "HP:0045051",
- "HP:0000093",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
"HP:0003076",
- "HP:0002097",
- "HP:0030078",
+ "HP:0003155",
"HP:0003355",
- "HP:0005576",
- "HP:0003774",
- "HP:0000822",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083",
],
"has_phenotype_label": [
+ "Metabolic acidosis",
"Hypophosphatemia",
- "Pulmonary fibrosis",
- "Hypophosphatemic rickets",
- "Genu valgum",
- "Hyperchloremic metabolic acidosis",
- "Decreased DLCO",
- "Proteinuria",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
"Glycosuria",
- "Emphysema",
- "Lung adenocarcinoma",
+ "Elevated circulating alkaline phosphatase concentration",
"Aminoaciduria",
- "Tubulointerstitial fibrosis",
- "Stage 5 chronic kidney disease",
- "Hypertension",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency",
],
- "has_phenotype_count": 14,
+ "has_phenotype_count": 16,
"has_phenotype_closure": [
- "UBERON:0000055",
- "UPHENO:0004507",
- "UBERON:0034923",
- "HP:0011025",
- "UBERON:0004537",
- "HP:0001626",
- "HP:0032263",
- "UPHENO:0002422",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
"HP:0000083",
- "HP:0012622",
- "UPHENO:0002246",
- "UPHENO:0005285",
- "UPHENO:0076779",
- "UPHENO:0005141",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0002564",
- "UPHENO:0087427",
- "UPHENO:0003093",
- "HP:0032581",
- "UBERON:0006555",
- "UPHENO:0076756",
- "HP:0012575",
- "UPHENO:0002803",
- "UPHENO:0003381",
- "HP:0005576",
- "UBERON:0004819",
- "UPHENO:0003094",
- "UPHENO:0002909",
- "UBERON:0000483",
- "UPHENO:0003941",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "UBERON:0001009",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "CHEBI:35605",
+ "UPHENO:0068169",
+ "CHEBI:72695",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
+ "CHEBI:33575",
"UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0002664",
- "UPHENO:3000003",
- "HP:0100606",
- "HP:0030358",
- "HP:0100526",
- "MPATH:14",
- "MPATH:25",
- "CHEBI:15693",
- "CHEBI:35381",
- "HP:0030972",
- "CHEBI:16646",
- "HP:0002597",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "CHEBI:33839",
- "UBERON:0001088",
- "UBERON:0007798",
- "HP:0000079",
- "HP:0033354",
- "UPHENO:0002642",
- "HP:0003110",
- "CHEBI:36963",
- "UBERON:0000489",
- "UPHENO:0068110",
- "HP:0011277",
- "HP:0020129",
- "UBERON:0001231",
- "UPHENO:0089294",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
"UPHENO:0046383",
- "CHEBI:33304",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
"CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
"CHEBI:36962",
"CHEBI:25806",
- "CHEBI:51143",
- "UPHENO:0004791",
- "CHEBI:16541",
- "UPHENO:0002442",
- "UBERON:0004122",
- "CHEBI:37622",
- "CHEBI:50047",
- "MPATH:597",
- "HP:0030878",
- "UBERON:0002049",
- "HP:0004360",
- "HP:0001995",
- "HP:0001942",
- "HP:0001941",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0031339",
- "UPHENO:0002585",
- "UBERON:0000479",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UPHENO:0003430",
- "UPHENO:0002983",
- "UBERON:0005055",
- "UBERON:0002513",
- "UBERON:0010740",
- "MPATH:0",
- "UBERON:0004709",
- "HP:0100491",
- "HP:0001992",
- "CHEBI:33256",
- "UPHENO:0031166",
- "UPHENO:0086780",
- "HP:0040064",
- "UPHENO:0002832",
- "UPHENO:0002944",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0004918",
- "UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0005172",
- "HP:0002795",
- "UPHENO:0068054",
- "HP:0006530",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0002643",
- "HP:0002088",
+ "CHEBI:18133",
+ "CHEBI:35381",
+ "CHEBI:16646",
+ "CHEBI:78616",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "HP:0000924",
"GO:0032501",
- "UPHENO:0002988",
- "UBERON:0011249",
- "CHEBI:16670",
- "UBERON:0000170",
- "HP:0002086",
- "UPHENO:0002526",
- "UBERON:0002113",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0004765",
+ "UPHENO:0002559",
+ "UPHENO:0076692",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
+ "CHEBI:33839",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
+ "UPHENO:0003432",
"UPHENO:0081544",
- "HP:0034669",
- "UBERON:0001558",
- "CHEBI:33675",
- "UPHENO:0002648",
- "HP:0000091",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0075945",
- "UPHENO:0002754",
- "HP:0012252",
- "HP:0100529",
- "UPHENO:0086908",
- "GO:0008150",
- "UPHENO:0002426",
- "UBERON:0013522",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
"HP:0032943",
- "UBERON:0001015",
- "UBERON:0000065",
- "UPHENO:0002859",
- "CHEBI:32988",
+ "CHEBI:60911",
+ "HP:0003109",
"UPHENO:0051686",
- "UPHENO:0002668",
- "UPHENO:0003015",
- "UBERON:0002103",
- "UPHENO:0068169",
- "BFO:0000002",
+ "HP:0003110",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0051709",
+ "UPHENO:0068110",
+ "UBERON:0000025",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
"BFO:0000001",
- "HP:0002981",
- "CHEBI:24867",
- "UBERON:0004211",
- "UBERON:0002417",
- "CHEBI:33238",
- "HP:0000077",
- "UPHENO:0005214",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003411",
- "HP:0000118",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0001002",
- "CHEBI:50860",
- "UPHENO:0002830",
+ "UBERON:0001008",
+ "UPHENO:0000543",
"UPHENO:0003413",
- "UPHENO:0002963",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
"UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
"CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0001062",
- "HP:0001871",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0075902",
- "CHEBI:23367",
- "UPHENO:0002530",
- "UPHENO:0002783",
- "UPHENO:0051739",
- "UPHENO:0002650",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
+ "UBERON:0005173",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "UPHENO:0002346",
+ "HP:0000079",
"CHEBI:24431",
- "GO:0042592",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
"UBERON:0002100",
- "UPHENO:0046284",
- "UBERON:0011676",
- "CHEBI:25367",
- "UPHENO:0003086",
- "UPHENO:0034253",
- "UBERON:0015061",
- "UPHENO:0002554",
- "UBERON:0013701",
- "UPHENO:0002636",
- "UBERON:0002193",
- "CHEBI:18133",
- "UBERON:0005178",
"UBERON:0011143",
- "UPHENO:0004418",
- "UBERON:0006314",
- "HP:0003355",
- "HP:0045051",
- "CHEBI:36359",
- "UPHENO:0003049",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002532",
- "UPHENO:0087433",
- "CHEBI:33302",
- "BFO:0000004",
- "UBERON:0005177",
- "CHEBI:26082",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
+ "UPHENO:0000541",
+ "UPHENO:0002909",
+ "CHEBI:24833",
"UBERON:0004111",
- "UBERON:0004535",
- "HP:0011793",
- "UPHENO:0051709",
- "UPHENO:0076299",
- "HP:0002206",
- "GO:0008152",
- "UBERON:0000982",
- "HP:0040068",
- "UBERON:0002048",
- "UPHENO:0004505",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UBERON:0004375",
- "UPHENO:0004503",
- "UPHENO:0076294",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UBERON:0004119",
- "UPHENO:0002536",
- "HP:0000822",
- "GO:0001503",
- "UPHENO:0031228",
- "CHEBI:33579",
- "BFO:0000003",
- "HP:0000001",
"UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UBERON:0013702",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "HP:0002097",
- "UPHENO:0003799",
- "UBERON:0000064",
- "CHEBI:33259",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0003657",
- "UPHENO:0076692",
- "UBERON:0004905",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "CHEBI:24870",
- "UPHENO:0002634",
- "CHEBI:33709",
- "UPHENO:0076767",
- "UBERON:0001285",
- "PATO:0000001",
- "HP:0030078",
- "MPATH:1000",
- "HP:0011842",
- "UPHENO:0051763",
- "UBERON:0011582",
- "UBERON:0000072",
- "BFO:0000020",
- "UPHENO:0002525",
+ "UPHENO:0066921",
+ "HP:0011042",
"HP:0032180",
- "UPHENO:0066739",
- "CHEBI:35352",
- "UBERON:0005181",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "UPHENO:9002003",
"UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
+ "GO:0042592",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
"UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:26079",
- "HP:0030760",
- "UPHENO:0048707",
- "UBERON:0001005",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0081581",
- "UBERON:0002471",
- "UPHENO:0003005",
- "UBERON:0000475",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
"UPHENO:0034351",
- "UPHENO:0031318",
- "UPHENO:0002678",
- "UBERON:0010363",
- "UPHENO:0002269",
- "UBERON:0001981",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "MPATH:596",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002448",
- "UPHENO:0084763",
- "CHEBI:33285",
- "UPHENO:0002870",
- "HP:0045049",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
"CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000477",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UBERON:0003914",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
"UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
+ "UPHENO:0002832",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
"UBERON:0000174",
- "CHEBI:36360",
+ "UPHENO:0002386",
+ "UPHENO:0069327",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
"UBERON:0010000",
- "UBERON:0001474",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
+ "UPHENO:0002963",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
+ "BFO:0000002",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
+ "UPHENO:0002949",
+ "UBERON:0000465",
+ "UPHENO:0001003",
"UBERON:0003103",
- "UPHENO:0076703",
- "HP:0001969",
- "UPHENO:0005201",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "UPHENO:0002885",
- "HP:0004912",
- "HP:0011849",
- "UPHENO:0003066",
- "UBERON:0002075",
- "UPHENO:0003084",
- "UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0002964",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002574",
- "UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002377",
- "HP:0001367",
- "HP:0000119",
- "UPHENO:0002785",
- "UPHENO:0086635",
- "UPHENO:0076714",
- "HP:0002813",
- "UPHENO:0002750",
- "UBERON:0004769",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
"UBERON:0000467",
- "UBERON:0003840",
- "UPHENO:0031142",
- "UPHENO:0087993",
- "UPHENO:0002679",
- "HP:0006487",
- "UPHENO:0002600",
- "UBERON:0004708",
- "HP:0000940",
- "UBERON:0001465",
- "UPHENO:0080300",
- "HP:0012210",
- "UPHENO:0002896",
- "UBERON:0005173",
- "UBERON:0015212",
- "UBERON:0004381",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UPHENO:0031122",
- "UBERON:0034921",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "UPHENO:0002406",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "CHEBI:33917",
- "UPHENO:0002593",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002531",
- "UPHENO:0004909",
- "UBERON:0000178",
- "UPHENO:0002632",
- "UBERON:0002529",
- "UBERON:0003823",
- "UPHENO:0041591",
- "UBERON:0004770",
- "UBERON:0000154",
- "UBERON:0000026",
- "UPHENO:0003516",
- "UPHENO:0003095",
- "UPHENO:0076727",
- "HP:0002815",
- "UBERON:0006058",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
- "HP:0002814",
- "HP:0003774",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0002576",
- "HP:0002857",
- "UPHENO:0041610",
- "MPATH:31",
- "UPHENO:0087462",
- "HP:0011314",
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904",
],
"has_phenotype_closure_label": [
- "Abnormality of the cardiovascular system",
- "vessel",
- "vascular system",
- "Increased blood pressure",
- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
- "Aciduria",
- "Abnormal urine pH",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
"organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
+ "muscle organ",
+ "increased level of organic acid in urine",
"oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
- "process of degenerative change",
- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
- "hexose",
- "monosaccharide",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
"urine glucose level phenotype",
- "Glycosuria",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
"Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
"polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
"protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
"Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
+ "abdominal segment element phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
+ "decreased level of phosphate in blood",
"nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "trunk",
+ "epithelial tube",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
"main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "anatomical entity physiology phenotype",
- "tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
- "main group molecular entity",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
"abdomen element",
- "material entity",
- "Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
- "abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
- "phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
- "decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
- "nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "Acidosis",
+ "nephron epithelium",
"Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
+ "renal system",
"phosphate",
- "molecular entity",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
"lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
- "carbon group molecular entity",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
"Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
"skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "haemolymphatic fluid",
"increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
+ "anatomical system physiology phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
"skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
"anatomical system",
- "zone of organ",
- "quality",
- "leg",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
"organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
- "hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
"Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "monoatomic entity",
"body proper",
- "excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
- "compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
"biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "bodily fluid",
+ "phosphoric acid derivative",
+ "racemate",
+ "blood phosphate level phenotype",
+ "blood monoatomic ion level phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "haemolymphatic fluid",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
"p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
+ "biological_process phenotype",
+ "Elevated circulating alkaline phosphatase concentration",
+ "compound organ",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
"blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
"material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
"phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity",
],
},
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "provided_by": "phenio_nodes",
+ "xref": ["OMIMPS:134600"],
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "namespace": "MONDO",
+ "has_phenotype_count": 0,
+ },
{
"id": "HP:0001994",
"category": "biolink:PhenotypicFeature",
"name": "Renal Fanconi syndrome",
+ "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.",
"provided_by": "phenio_nodes",
+ "xref": ["SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"],
"synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"],
"namespace": "HP",
"has_phenotype_count": 0,
},
{
- "id": "MONDO:0012186",
+ "id": "MONDO:0011584",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
+ "name": "Fanconi anemia complementation group D1",
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
"provided_by": "phenio_nodes",
"xref": [
- "DOID:0111091",
- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861",
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457",
],
"synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I",
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001655",
- "HP:0001875",
- "HP:0000325",
- "HP:0000545",
- "HP:0002984",
- "HP:0002247",
- "HP:0003974",
- "HP:0001873",
"HP:0009778",
- "HP:0001631",
- "HP:0000543",
- "HP:0001511",
- "HP:0000405",
- "HP:0009777",
- "HP:0000568",
- "HP:0000821",
- "HP:0002308",
- "HP:0002949",
- "HP:0000609",
- "HP:0034323",
- "HP:0000470",
- "HP:0001263",
- "HP:0003221",
- "HP:0030048",
- "HP:0000076",
- "HP:0000252",
- "HP:0000413",
- "HP:0001643",
"HP:0005528",
- "HP:0030680",
+ "HP:0001511",
+ "HP:0004808",
"HP:0000957",
- "HP:0001903",
- "HP:0001629",
- "HP:0010034",
- "HP:0012210",
- "HP:0012506",
- "HP:0000085",
- "HP:0001274",
+ "HP:0003221",
+ "HP:0001508",
"HP:0004322",
- "HP:0000089",
- "HP:0000365",
- "HP:0000483",
- "HP:0004325",
- "HP:0001331",
- "HP:0005528",
+ "HP:0006727",
+ "HP:0002023",
+ "HP:0000252",
],
"has_phenotype_label": [
- "Patent foramen ovale",
- "Neutropenia",
- "Triangular face",
- "Myopia",
- "Hypoplasia of the radius",
- "Duodenal atresia",
- "Absent radius",
- "Thrombocytopenia",
"Short thumb",
- "Atrial septal defect",
- "Optic disc pallor",
- "Intrauterine growth retardation",
- "Conductive hearing impairment",
- "Absent thumb",
- "Microphthalmia",
- "Hypothyroidism",
- "Chiari malformation",
- "Fused cervical vertebrae",
- "Optic nerve hypoplasia",
- "Reduced circulating growth hormone concentration",
- "Short neck",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Colpocephaly",
- "Vesicoureteral reflux",
- "Microcephaly",
- "Atresia of the external auditory canal",
- "Patent ductus arteriosus",
"Bone marrow hypocellularity",
- "Abnormal cardiovascular system morphology",
+ "Intrauterine growth retardation",
+ "Acute myeloid leukemia",
"Cafe-au-lait spot",
- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
- "Abnormal renal morphology",
- "Small pituitary gland",
- "Horseshoe kidney",
- "Agenesis of corpus callosum",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
"Short stature",
- "Renal hypoplasia",
- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity",
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia",
+ "Microcephaly",
],
- "has_phenotype_count": 44,
+ "has_phenotype_count": 11,
"has_phenotype_closure": [
- "UPHENO:0002563",
- "UPHENO:0002872",
- "UPHENO:0002921",
- "UPHENO:0008831",
- "UPHENO:0026187",
- "UPHENO:0025610",
- "UPHENO:0011938",
- "UPHENO:0026263",
- "UPHENO:0002565",
- "UPHENO:0009312",
- "UPHENO:0011517",
- "UPHENO:0026588",
- "UBERON:0000119",
- "UBERON:0003528",
- "UPHENO:0025954",
- "UPHENO:0026796",
- "UBERON:0000957",
- "UBERON:0002020",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
- "UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UBERON:0010313",
- "UPHENO:0031228",
- "UPHENO:0031123",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0041098",
- "UPHENO:0004764",
- "UPHENO:0031144",
- "HP:0000481",
- "UPHENO:0031206",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UBERON:0001801",
- "UBERON:0000964",
- "UPHENO:0087597",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0087232",
- "UPHENO:0031129",
- "UPHENO:0041037",
- "UPHENO:0041053",
- "HP:0000089",
- "HP:0008678",
- "UPHENO:0080352",
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0087907",
+ "HP:0000152",
+ "UPHENO:0076702",
+ "UPHENO:0004523",
+ "HP:0000234",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "UPHENO:0003001",
+ "UBERON:0013701",
+ "UBERON:0011676",
+ "UBERON:0000481",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UBERON:0011137",
+ "UBERON:0013702",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0003025",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "HP:0009121",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "HP:0000240",
+ "UPHENO:0086589",
+ "HP:0002060",
+ "UBERON:0000033",
+ "UBERON:0005944",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "NCBITaxon:131567",
+ "UPHENO:0080200",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "UPHENO:3000000",
+ "NCBITaxon:33154",
+ "UPHENO:0063596",
+ "HP:0025033",
+ "UPHENO:0074229",
+ "HP:0034915",
+ "UPHENO:0063558",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "GO:0005623",
+ "UPHENO:0074230",
+ "UPHENO:0076803",
+ "HP:0004378",
+ "UBERON:0001007",
+ "UPHENO:0002554",
+ "UPHENO:0074227",
+ "UPHENO:0074245",
+ "UPHENO:0002839",
+ "HP:0006721",
+ "HP:0011355",
"UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "UBERON:0001869",
- "UPHENO:0002784",
- "UPHENO:0025935",
- "UPHENO:0011556",
- "UPHENO:0008598",
- "HP:0004323",
- "UBERON:0005970",
- "UPHENO:0087032",
- "UPHENO:0002997",
- "UPHENO:0002834",
- "UPHENO:0082794",
- "HP:0033725",
- "UPHENO:0011567",
- "UBERON:0000446",
- "UBERON:0000454",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0009056",
- "UPHENO:0025363",
- "UPHENO:0008925",
- "UPHENO:0087531",
- "UPHENO:0011557",
- "HP:0001273",
- "UPHENO:0011580",
- "UPHENO:0025368",
- "UBERON:0002437",
- "UBERON:0002473",
- "UBERON:0005340",
- "UPHENO:0008838",
- "UPHENO:0081562",
- "UPHENO:0011545",
- "UPHENO:0085804",
- "UPHENO:0026211",
- "UBERON:0007702",
- "UBERON:0001020",
- "UPHENO:0011549",
- "HP:0007370",
- "UPHENO:0002873",
- "UPHENO:0085805",
- "UPHENO:0011515",
- "UPHENO:0002811",
- "HP:0012429",
- "UPHENO:0076807",
- "UBERON:0011299",
+ "UPHENO:0080351",
"UPHENO:0081424",
- "UBERON:0019294",
- "UBERON:0002316",
- "UBERON:0001018",
- "UPHENO:0026388",
- "UPHENO:0025599",
- "UPHENO:0008483",
- "UPHENO:0009064",
- "UPHENO:0011553",
- "UPHENO:0041226",
- "UPHENO:0041465",
- "UBERON:0011300",
- "HP:0100542",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "UBERON:0000007",
- "UBERON:0001894",
- "UPHENO:0069251",
- "UPHENO:0003055",
- "UPHENO:0069370",
- "UPHENO:0002523",
- "UPHENO:0086735",
- "UPHENO:0068967",
- "HP:0012504",
- "UPHENO:0068824",
- "UPHENO:0002685",
- "UBERON:0003296",
- "HP:0000078",
- "UBERON:0004092",
- "UPHENO:0069067",
- "UPHENO:0087547",
- "UPHENO:0088065",
- "UPHENO:0087516",
- "UBERON:0003937",
- "HP:0012503",
- "UPHENO:0003016",
- "HP:0000864",
- "UPHENO:0069190",
- "UPHENO:0075995",
- "UPHENO:0087427",
- "UPHENO:0002803",
- "UPHENO:0075203",
- "UBERON:0000916",
- "UPHENO:0003094",
- "UPHENO:0002638",
- "UPHENO:0002601",
- "UBERON:0002374",
- "UBERON:0003821",
- "UBERON:0005897",
- "UPHENO:0002898",
- "UPHENO:0002950",
- "HP:0005916",
- "UPHENO:0069476",
- "HP:0009658",
- "UPHENO:0002756",
- "HP:0004328",
- "UPHENO:0002845",
- "UPHENO:0046408",
- "UPHENO:0046467",
- "UPHENO:0084447",
- "UPHENO:0069518",
- "UPHENO:0002612",
- "UPHENO:0069555",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:0011250",
- "UPHENO:0046541",
- "HP:0005914",
- "UPHENO:0046762",
- "UPHENO:0002881",
- "UPHENO:0046450",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "UPHENO:0002938",
- "UPHENO:0080083",
- "UBERON:0004249",
- "UPHENO:0002899",
- "UPHENO:0084458",
- "UPHENO:0076779",
- "UPHENO:0046657",
- "UPHENO:0046685",
- "UBERON:0010546",
- "UBERON:5102544",
- "UBERON:0010543",
- "UBERON:0012150",
- "UPHENO:0046417",
- "UPHENO:0002752",
- "UPHENO:0002917",
- "UBERON:0012430",
- "UPHENO:0046656",
- "UPHENO:0046661",
- "UBERON:0003620",
- "UBERON:0013581",
- "UBERON:0012358",
- "UBERON:0009877",
- "UPHENO:0046522",
- "UPHENO:0080160",
- "UPHENO:0080168",
- "UBERON:0019264",
- "HP:0001713",
- "UPHENO:0002613",
- "UPHENO:0086854",
- "UPHENO:0033604",
- "HP:0001629",
- "UPHENO:0086866",
- "UPHENO:0003828",
- "UBERON:0002094",
- "UPHENO:0087415",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "CL:0000764",
- "CL:0000232",
- "CL:0000329",
- "UPHENO:0088162",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0074584",
- "HP:0000953",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0005431",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "UPHENO:0010763",
+ "UPHENO:0082794",
+ "UPHENO:0082761",
+ "UPHENO:0053208",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
+ "UPHENO:0004704",
+ "UPHENO:0050126",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UBERON:0004381",
+ "GO:0042592",
+ "UPHENO:0063565",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "GO:0010556",
+ "CL:0002092",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0050040",
+ "UPHENO:0054315",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:5001463",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
"UPHENO:0076739",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "UPHENO:0080662",
+ "UPHENO:0063594",
+ "UPHENO:0010808",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "UPHENO:0002635",
+ "UPHENO:0003811",
+ "HP:0002977",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
"HP:0012733",
+ "UBERON:0010707",
"HP:0001574",
- "GO:0043473",
- "HP:0000951",
+ "UPHENO:0002648",
+ "HP:0004325",
"UBERON:0002416",
- "UPHENO:0054970",
- "UPHENO:0003019",
- "UPHENO:0004405",
- "UPHENO:0033581",
- "UPHENO:0004457",
- "UPHENO:0033593",
- "UBERON:0000055",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0003012",
- "HP:0001643",
- "UBERON:0003133",
- "UPHENO:0087186",
- "UPHENO:0076729",
- "UPHENO:0015331",
- "UPHENO:0002678",
- "UPHENO:0002804",
- "UPHENO:0087309",
- "UPHENO:0087018",
- "UBERON:0018674",
- "UBERON:0001637",
- "UPHENO:0033602",
- "UPHENO:0033599",
- "UPHENO:0005134",
- "UBERON:0004537",
- "UBERON:0002201",
- "UBERON:0003498",
- "UBERON:0004572",
- "UBERON:0011695",
- "UBERON:0004716",
- "UPHENO:0033598",
- "HP:0009660",
- "UPHENO:0080164",
- "UPHENO:0002916",
- "UPHENO:0033579",
- "UBERON:0007798",
- "UPHENO:0033580",
- "UPHENO:0003031",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "UBERON:0001691",
- "UPHENO:0063596",
- "UPHENO:0033609",
- "UPHENO:0074348",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0063645",
- "UBERON:0001352",
- "UPHENO:0008678",
- "UPHENO:0025547",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "HP:0009825",
- "UPHENO:0008604",
- "UPHENO:0026640",
- "UPHENO:0025136",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "UPHENO:0009399",
- "UPHENO:0026023",
- "UPHENO:0081451",
- "UPHENO:0076765",
- "UBERON:0034925",
- "HP:0005918",
- "UPHENO:0025955",
- "GO:0050789",
- "UBERON:0013702",
- "UPHENO:0008865",
- "UBERON:0002104",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "HP:0040064",
+ "UBERON:0002097",
+ "HP:0000953",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "CL:0008001",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "CL:0000219",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "CL:0002191",
+ "HP:0001881",
+ "GO:0007275",
+ "CL:0002242",
+ "HP:0001909",
+ "UBERON:0004111",
+ "HP:0032251",
+ "HP:0010987",
+ "HP:0004377",
+ "UPHENO:0050068",
+ "HP:0002023",
+ "UPHENO:0050034",
+ "UPHENO:0052178",
+ "HP:0025031",
+ "UPHENO:0052694",
+ "HP:0000957",
+ "BFO:0000015",
+ "UPHENO:0086644",
+ "UPHENO:0053456",
+ "UPHENO:0049587",
+ "UPHENO:0050008",
+ "UPHENO:0005433",
+ "UPHENO:0079876",
+ "GO:0048856",
+ "HP:0002664",
"UPHENO:0046505",
- "UPHENO:0011533",
- "UPHENO:0026074",
- "UPHENO:0008686",
- "GO:0060255",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0009366",
- "UPHENO:0025509",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UPHENO:0011492",
- "HP:0002011",
- "UPHENO:0025808",
- "HP:0001671",
- "UPHENO:0005029",
- "UPHENO:0025883",
- "CL:0000775",
+ "GO:0032502",
"UPHENO:0076805",
- "UPHENO:0026808",
- "UPHENO:0026239",
- "UPHENO:0082761",
- "UPHENO:0069272",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0084820",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UBERON:0000160",
- "UPHENO:0002764",
- "UPHENO:0076755",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UPHENO:0087334",
- "UPHENO:0026506",
- "HP:0003117",
- "UBERON:0002114",
- "UBERON:0015042",
- "UPHENO:0002988",
- "UBERON:0004111",
- "UPHENO:0075219",
- "UBERON:0001130",
+ "GO:0032501",
+ "UBERON:0002405",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "GO:0043473",
+ "UPHENO:0050106",
"UPHENO:0076703",
- "UPHENO:0078089",
- "UPHENO:0081594",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0002285",
- "UPHENO:0002994",
- "UBERON:0012357",
- "UPHENO:0002652",
- "UBERON:0004921",
+ "UPHENO:0002812",
+ "UPHENO:0002844",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "UPHENO:0002833",
+ "UPHENO:0001003",
"UPHENO:0053330",
- "UBERON:0000020",
- "GO:0030252",
- "UBERON:0001007",
- "UPHENO:0002303",
- "UPHENO:0031142",
- "UPHENO:0025587",
- "HP:0002247",
- "HP:0030962",
- "UPHENO:0002689",
- "UPHENO:0088020",
- "UPHENO:0002377",
- "UBERON:0005409",
- "UBERON:0003103",
- "UPHENO:0003952",
- "UPHENO:0074228",
- "UPHENO:0063558",
+ "UPHENO:0063577",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "HP:0001507",
+ "UPHENO:0004459",
+ "UBERON:0002371",
+ "BFO:0000003",
+ "HP:0012145",
+ "HP:0001871",
+ "UPHENO:0087123",
+ "UPHENO:0088166",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0005528",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0002525",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UBERON:0000073",
+ "HP:0001508",
+ "UPHENO:0069684",
+ "UPHENO:0046483",
+ "HP:0011844",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "GO:0008152",
+ "HP:0001939",
+ "UBERON:0012141",
+ "UPHENO:0002963",
+ "UBERON:0001440",
+ "UPHENO:0002764",
+ "HP:0007400",
+ "CL:0000839",
+ "CL:0001035",
+ "UBERON:0004375",
+ "HP:0033127",
+ "UBERON:0002101",
+ "BFO:0000040",
+ "UBERON:0008785",
"UPHENO:0001002",
- "UPHENO:0002239",
- "HP:0002973",
- "UPHENO:0063569",
- "HP:0002246",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0069125",
- "UPHENO:0074229",
- "HP:0030048",
- "GO:0050877",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0063586",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0003227",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0063562",
+ "UPHENO:0088186",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UPHENO:0054304",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0002782",
+ "UPHENO:0002530",
+ "UBERON:0011138",
+ "UBERON:0000062",
"UPHENO:0002945",
- "UBERON:0000025",
- "HP:0001098",
- "HP:0025461",
- "UPHENO:0046483",
- "HP:0006496",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "UPHENO:0076720",
- "HP:0032251",
- "UPHENO:0081204",
- "UPHENO:0084763",
- "UPHENO:0046490",
- "UPHENO:0081313",
- "UPHENO:0046554",
- "HP:0000483",
- "UBERON:0019261",
- "UBERON:0002049",
- "UBERON:0005181",
- "UPHENO:0002544",
- "HP:0000085",
- "UPHENO:0004909",
- "UPHENO:0002880",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0002538",
- "HP:0006501",
- "CL:0000766",
- "UPHENO:0050034",
- "UPHENO:0046403",
- "HP:0012759",
- "UPHENO:0075933",
- "UPHENO:0068912",
- "UBERON:0015061",
- "GO:0010817",
- "HP:0009826",
- "HP:0025015",
- "UPHENO:0066905",
- "UPHENO:0003936",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0069328",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UPHENO:0026486",
- "UPHENO:0009209",
- "UBERON:0006058",
- "UPHENO:0074237",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0076718",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UPHENO:0012274",
- "UPHENO:0087750",
+ "UBERON:0010538",
+ "UPHENO:0081423",
"UPHENO:0003095",
- "UPHENO:0003514",
- "UPHENO:0026146",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0068838",
- "HP:0012145",
- "UPHENO:0046540",
- "UPHENO:0002467",
- "HP:0002817",
- "UPHENO:0003030",
- "UBERON:0004732",
- "UPHENO:0002562",
- "UPHENO:0046472",
- "UBERON:0008962",
- "UBERON:0004453",
- "UBERON:0015001",
- "HP:0100240",
- "UPHENO:0025135",
- "UPHENO:0068848",
- "UBERON:0006717",
- "UPHENO:0002593",
- "UPHENO:0002550",
- "HP:0011991",
- "UPHENO:0068898",
- "UPHENO:0002746",
- "UPHENO:0002954",
- "UBERON:0010712",
- "UBERON:0011249",
- "UPHENO:0011546",
- "UPHENO:0008707",
- "RO:0002577",
+ "UPHENO:0002708",
+ "UPHENO:0002536",
+ "HP:0009381",
+ "UPHENO:0074237",
+ "HP:0040068",
+ "GO:0010629",
+ "UBERON:0002398",
+ "HP:0000951",
+ "HP:0002813",
"UBERON:0004765",
- "UPHENO:0002246",
- "UBERON:0010703",
- "HP:0010993",
- "UBERON:0002428",
- "UPHENO:0026095",
- "UPHENO:0002648",
- "UPHENO:0002719",
- "HP:0030680",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0005927",
- "UPHENO:0074310",
- "UBERON:0001981",
- "CL:0000000",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0010538",
- "HP:0005773",
- "UBERON:0003221",
- "UPHENO:0002594",
- "HP:0009815",
- "UBERON:0002495",
- "HP:0005528",
- "UPHENO:0003065",
- "UPHENO:0002650",
- "UPHENO:0049894",
- "HP:0001167",
- "UBERON:0000026",
- "UPHENO:0002800",
- "UBERON:0003645",
+ "UPHENO:0003082",
+ "HP:0002488",
+ "UBERON:0002193",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0004476",
+ "UBERON:0002389",
+ "UBERON:0004710",
+ "UPHENO:0084448",
"HP:0005561",
- "UPHENO:0025166",
- "UBERON:0004120",
- "UBERON:0011584",
- "UPHENO:0052178",
- "HP:0003422",
- "HP:0040070",
- "UPHENO:0012312",
- "UBERON:0002405",
- "HP:0011017",
- "GO:0006810",
- "UPHENO:0046396",
- "UBERON:0004714",
- "HP:0000818",
- "HP:0006503",
- "UBERON:0003544",
- "UBERON:0013768",
- "UPHENO:0002969",
- "HP:0002715",
- "GO:0023052",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UPHENO:0009295",
- "UPHENO:0046741",
- "UPHENO:0087518",
- "UPHENO:0002211",
- "UBERON:0000060",
- "UPHENO:0002717",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
+ "UPHENO:0080352",
+ "HP:0005922",
+ "UBERON:0000383",
+ "UBERON:0000026",
+ "UPHENO:0076724",
+ "UPHENO:0078606",
+ "BFO:0000004",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0004064",
+ "UPHENO:0004909",
+ "UPHENO:0080393",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0000468",
+ "UPHENO:0063599",
+ "HP:0000118",
"UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046594",
- "UBERON:0002390",
- "BFO:0000040",
- "UBERON:0000941",
- "UPHENO:0011544",
- "CL:0000255",
- "HP:0001172",
- "UPHENO:0011572",
- "CL:0000738",
- "UBERON:0011138",
- "HP:0100887",
- "UBERON:0002193",
- "HP:0001871",
- "HP:0006265",
- "UPHENO:0049813",
- "UPHENO:0074245",
- "UPHENO:0063794",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0076799",
- "UBERON:0002099",
- "HP:0001872",
- "HP:0010026",
- "UPHENO:0063722",
+ "UBERON:0002529",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0002948",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "UBERON:0004288",
+ "UPHENO:0069266",
+ "UPHENO:0003227",
"UBERON:0015203",
- "UBERON:0000475",
- "UPHENO:0008743",
- "HP:0010034",
- "UPHENO:0046528",
- "UPHENO:0085356",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0002792",
- "UPHENO:0063787",
"UBERON:0012139",
- "UPHENO:0085371",
- "UPHENO:0049642",
- "UPHENO:0087369",
- "CL:0000988",
- "GO:0051179",
- "HP:0000470",
- "HP:0000118",
- "UBERON:0004710",
- "HP:0001881",
- "HP:0040195",
- "UPHENO:0046618",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0069327",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0002603",
- "HP:0011994",
- "UBERON:0005177",
- "UPHENO:0010763",
- "HP:0000325",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "HP:0000413",
- "UPHENO:0025961",
- "UPHENO:0026098",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "CL:0002242",
- "UPHENO:0002910",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003799",
- "UPHENO:0003815",
+ "UPHENO:0002668",
+ "UBERON:0002470",
+ "UBERON:0000025",
+ "HP:0001000",
+ "UBERON:0019231",
+ "UPHENO:0076723",
+ "UPHENO:0049743",
+ "UPHENO:0084763",
+ "UBERON:0012475",
+ "UBERON:0000475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UBERON:0015061",
+ "UPHENO:0076791",
"UPHENO:0002568",
- "HP:0002948",
- "UPHENO:0080204",
- "HP:0008057",
- "UPHENO:0086797",
- "UBERON:0011216",
- "HP:0011452",
- "UBERON:0018707",
- "UPHENO:9002003",
- "UPHENO:0002643",
- "GO:0008152",
- "UBERON:0004088",
- "UPHENO:0071310",
- "HP:0011282",
- "UPHENO:0071317",
- "UPHENO:0076810",
- "UPHENO:0063565",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0046684",
- "UBERON:0001015",
- "UBERON:0019207",
- "UPHENO:0002736",
- "UBERON:0009569",
- "CL:0001035",
- "UPHENO:0002600",
- "UPHENO:0009337",
- "HP:0001507",
- "UPHENO:0002430",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0025921",
- "UPHENO:0069477",
- "UPHENO:0075220",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UPHENO:0069335",
- "HP:0012130",
+ "UPHENO:0002949",
+ "GO:0040007",
+ "UPHENO:0080099",
"HP:0000924",
- "UBERON:0000062",
- "HP:0033127",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0004535",
- "UPHENO:0011520",
- "UBERON:0011137",
- "UPHENO:0081554",
- "UPHENO:0008622",
- "UPHENO:0004831",
- "HP:0001331",
- "UPHENO:0063615",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "HP:0010009",
- "UBERON:0004121",
- "UPHENO:0082875",
- "UPHENO:0076776",
- "UPHENO:0046538",
- "UBERON:0000468",
- "UPHENO:0002313",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0033590",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0004507",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UBERON:0004573",
- "HP:0000929",
- "UPHENO:0078122",
- "HP:0002589",
- "HP:0011283",
- "UPHENO:0071344",
- "UPHENO:0003069",
- "UPHENO:0002983",
- "UPHENO:0075655",
- "UPHENO:0050065",
- "UPHENO:0003827",
- "GO:0010556",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "UPHENO:0026806",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UPHENO:0080126",
"UBERON:5002544",
- "UPHENO:0076723",
- "UPHENO:0009195",
- "UBERON:0002413",
- "UPHENO:0009136",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0015277",
- "CL:0000457",
- "UPHENO:0086176",
- "PATO:0000001",
- "UPHENO:0003086",
- "UPHENO:0081511",
- "UPHENO:0069480",
- "HP:0011842",
- "UPHENO:0003017",
- "UPHENO:0025852",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0087596",
- "UPHENO:0002641",
- "UPHENO:0079876",
- "UPHENO:0063629",
- "UBERON:0000915",
- "UPHENO:0066907",
- "UPHENO:0002531",
- "UPHENO:0002816",
- "UPHENO:0004459",
- "GO:0050954",
- "UPHENO:0046448",
- "UPHENO:0033559",
- "UBERON:0000467",
- "UPHENO:0008487",
- "UPHENO:0080187",
- "NCBITaxon:33208",
- "UPHENO:0049703",
- "UPHENO:0027017",
- "HP:0009115",
+ "UPHENO:0002905",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "HP:0011927",
+ "HP:0000002",
+ "UPHENO:0068971",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "UBERON:0006058",
+ "UPHENO:0080079",
+ "UPHENO:0002870",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UBERON:0006048",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0049757",
+ "UPHENO:0080662",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UBERON:0010708",
+ "HP:0040012",
+ "UPHENO:0001001",
+ "UBERON:0012354",
+ "UBERON:0001434",
+ "UPHENO:0003812",
+ "UPHENO:0046741",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0002964",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0001245",
+ "UPHENO:0054374",
+ "HP:0000252",
"UBERON:0002204",
- "UPHENO:0069194",
- "UPHENO:0002927",
"UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0086857",
- "UPHENO:0063639",
- "UBERON:0008001",
- "UPHENO:0046539",
- "UBERON:0002100",
- "UBERON:0015410",
- "HP:0002977",
- "HP:0001627",
- "CL:0000219",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0087376",
- "UBERON:0002355",
- "UBERON:0001440",
- "UPHENO:0015308",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "UPHENO:0078139",
- "HP:0001263",
- "HP:0005120",
- "UPHENO:0046693",
- "UPHENO:0002833",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0011498",
- "UPHENO:0069277",
- "HP:0001875",
- "UPHENO:0076782",
+ "GO:0048519",
+ "HP:0011121",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0003049",
+ "GO:0008150",
"UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0076744",
- "HP:0000001",
- "UPHENO:0086016",
- "UBERON:0003947",
- "HP:0010662",
- "BFO:0000002",
- "HP:0002242",
- "HP:0002813",
- "UBERON:0000047",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0012477",
- "UBERON:0000064",
- "UBERON:0003037",
- "UPHENO:0004618",
- "UBERON:0006876",
+ "NCBITaxon:6072",
"UBERON:0001463",
- "UPHENO:0084819",
- "UPHENO:0069046",
- "UPHENO:0025855",
- "UBERON:0015228",
- "UBERON:0010314",
- "UPHENO:0068839",
- "UPHENO:0077373",
- "UBERON:5102389",
- "GO:0010558",
- "UPHENO:0080126",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UPHENO:0033560",
- "HP:0001911",
- "HP:0000077",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0086855",
- "UPHENO:0002554",
- "UPHENO:0049699",
- "HP:0000478",
- "UBERON:0005179",
- "UPHENO:0002750",
- "GO:0046879",
- "HP:0011100",
- "UPHENO:3000007",
- "UPHENO:0005433",
- "UPHENO:0002934",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UPHENO:0002963",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UPHENO:0068879",
- "UBERON:0010741",
- "UPHENO:0002525",
- "HP:0011024",
- "UPHENO:0003410",
- "UPHENO:0063575",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "UBERON:0001444",
- "GO:0050794",
- "UBERON:0002081",
- "HP:0040064",
+ "UPHENO:0069236",
+ "UBERON:0007272",
+ "HP:0045060",
+ "UPHENO:0005092",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0009601",
+ "UPHENO:0076692",
+ "BFO:0000002",
+ "UPHENO:0012440",
+ "UPHENO:0054957",
+ "UPHENO:0003432",
+ "UBERON:0011216",
+ "CL:0000738",
+ "UPHENO:0002880",
+ "UBERON:0000467",
"UPHENO:0003004",
- "UPHENO:0088166",
- "UPHENO:0012308",
- "HP:0003953",
- "UPHENO:0069064",
- "UBERON:0000463",
- "UBERON:0004151",
- "UPHENO:0066927",
- "UPHENO:0077418",
- "UPHENO:0078188",
- "HP:0003026",
- "HP:0009822",
- "HP:0012506",
- "GO:0031049",
- "HP:0011297",
- "UBERON:0002513",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "HP:0009823",
- "UPHENO:0011531",
- "HP:0010987",
- "HP:0001939",
- "HP:0032309",
- "UPHENO:0004884",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0081440",
- "UPHENO:0025553",
- "HP:0010049",
- "UPHENO:0002806",
- "UBERON:0010363",
- "UPHENO:0002385",
- "HP:0000568",
- "CL:0002092",
- "UBERON:0000019",
- "UBERON:0005156",
- "HP:0009767",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0005058",
- "UBERON:0002471",
- "HP:0000240",
- "UPHENO:0003432",
- "UBERON:0003466",
- "UPHENO:0003084",
- "UBERON:0003458",
- "UBERON:0002075",
- "UPHENO:0085354",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UPHENO:0026390",
- "UPHENO:0077348",
- "BFO:0000001",
- "UBERON:0000383",
- "GO:0040007",
- "UPHENO:0086172",
- "UPHENO:0003460",
- "HP:0000545",
- "UBERON:0003606",
- "UPHENO:0046465",
- "UPHENO:0074575",
- "HP:0000543",
- "UPHENO:0002267",
- "UPHENO:0081210",
- "UBERON:0005985",
- "UPHENO:0080325",
- "UPHENO:0002261",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0004386",
- "UPHENO:0002948",
- "UBERON:0007100",
- "UPHENO:0002656",
- "UPHENO:0004521",
- "UPHENO:0009341",
- "UPHENO:0076675",
- "UPHENO:0002386",
- "UPHENO:0005597",
- "HP:0009824",
- "GO:0009790",
- "UPHENO:0004956",
- "HP:0012373",
- "UPHENO:0002976",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0025508",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "HP:0000014",
- "UPHENO:0008583",
- "UPHENO:0025544",
- "HP:0010974",
- "UPHENO:0077399",
- "HP:0030047",
- "UBERON:0003513",
- "UPHENO:0026183",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0002476",
- "UBERON:0000033",
- "UBERON:0000970",
- "UPHENO:0002536",
- "UPHENO:0003697",
- "UBERON:0000153",
- "UPHENO:0009115",
- "UBERON:0000061",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "UPHENO:0086932",
- "UPHENO:0002844",
- "UPHENO:0025811",
- "UPHENO:0004494",
- "UPHENO:0002987",
- "UPHENO:0046460",
- "HP:0000234",
- "UBERON:0000966",
- "UBERON:0001016",
- "UBERON:0015212",
- "UPHENO:0002841",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0026344",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0009391",
- "HP:0000539",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0009821",
- "UPHENO:0002659",
- "CL:0000094",
- "UPHENO:0002621",
- "UPHENO:0003025",
- "UPHENO:0002352",
- "UPHENO:0002896",
- "UPHENO:0069292",
- "UPHENO:0002301",
- "UPHENO:0046479",
- "HP:0000925",
- "HP:0011844",
- "UPHENO:0015281",
- "HP:0025354",
- "UBERON:0001032",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0068971",
- "UPHENO:0005647",
+ "GO:0009892",
+ "UPHENO:0002733",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UPHENO:0075159",
+ "UPHENO:0069674",
+ "UPHENO:0010850",
+ "UPHENO:0002559",
+ "HP:0040195",
+ "HP:0009815",
"UPHENO:0002731",
- "UBERON:0012151",
- "HP:0011893",
+ "UPHENO:0002859",
+ "UPHENO:0012308",
+ "GO:0031052",
+ "UPHENO:0002526",
+ "UPHENO:0010799",
+ "UPHENO:0050108",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002736",
+ "UBERON:0010712",
+ "CL:0000763",
"UPHENO:0086633",
- "UPHENO:0087510",
- "UBERON:0007272",
- "UPHENO:0080099",
- "UPHENO:0074335",
- "GO:0023061",
- "UPHENO:0004788",
- "HP:0000315",
- "HP:0010438",
- "UBERON:0004923",
- "UPHENO:0005120",
- "UBERON:0002199",
- "UBERON:0008785",
- "UBERON:0005440",
- "UPHENO:0069047",
- "GO:0031323",
- "UBERON:0003509",
- "UPHENO:0009344",
- "UPHENO:0008640",
- "UPHENO:0025497",
- "HP:0011873",
- "UPHENO:0003020",
- "UPHENO:0085302",
- "UPHENO:0080588",
- "UBERON:0000056",
- "HP:0009778",
- "UPHENO:0003811",
- "GO:0032940",
- "UBERON:0001756",
- "CL:0000233",
- "UBERON:0004375",
- "HP:0000069",
- "CL:0000458",
- "UPHENO:0046438",
- "UPHENO:0063562",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0004149",
- "HP:0001873",
- "UPHENO:0002782",
- "HP:0002949",
- "UPHENO:0086700",
- "UBERON:0019231",
- "UBERON:0010708",
- "CHEBI:24431",
- "UPHENO:0076724",
- "UPHENO:0069684",
- "HP:0000365",
- "UBERON:0000477",
- "UPHENO:0082878",
- "UPHENO:0046740",
- "UPHENO:0008475",
- "UPHENO:0002905",
- "UPHENO:0004476",
"UBERON:5002389",
- "UPHENO:0069236",
- "UBERON:0002091",
- "UBERON:0005388",
- "UPHENO:0053456",
- "HP:0000464",
- "UBERON:0012140",
- "UPHENO:0069538",
- "UPHENO:0087089",
- "UBERON:0001442",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "GO:0042886",
- "UPHENO:0087006",
- "HP:0040072",
- "UPHENO:0069605",
- "HP:0000372",
- "UPHENO:0003082",
- "UPHENO:0002640",
- "UPHENO:0002964",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "HP:0011927",
- "UPHENO:0046750",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "UPHENO:0046411",
- "GO:0048519",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UPHENO:0002388",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0002739",
- "HP:0009381",
+ "UBERON:0002544",
+ "UPHENO:0002548",
+ "HP:0006727",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UBERON:0001015",
"UPHENO:0069062",
- "UPHENO:0002708",
- "UBERON:0001893",
- "UPHENO:0069674",
- "UPHENO:0004064",
- "UBERON:5001463",
- "UPHENO:0049733",
- "UBERON:0001017",
- "UBERON:0011215",
- "HP:0034323",
- "UPHENO:0046707",
- "UPHENO:0087943",
- "UPHENO:0063563",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0004766",
- "UBERON:0004770",
- "UBERON:0002082",
- "UBERON:0000974",
- "HP:0012639",
- "NCBITaxon:1",
- "UPHENO:0076791",
- "UBERON:0005162",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "GO:0030072",
- "UPHENO:0026226",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "HP:0004329",
- "UPHENO:0003114",
- "UPHENO:0049743",
- "HP:0011875",
- "UPHENO:0033607",
- "HP:0000707",
- "UBERON:0034713",
- "UBERON:0001783",
- "UBERON:0001802",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UBERON:0003951",
- "UBERON:0000122",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "NCBITaxon:131567",
- "HP:0000479",
- "HP:0000587",
- "UPHENO:0046406",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0011843",
- "UPHENO:0041075",
- "HP:0012372",
- "UPHENO:0068932",
- "UBERON:0015007",
- "HP:0001317",
- "UPHENO:0008998",
- "HP:0000598",
- "UPHENO:0087472",
- "UPHENO:0003074",
- "HP:0011729",
- "UPHENO:0050063",
- "UPHENO:0086589",
- "CL:0000763",
- "UPHENO:0003026",
- "UBERON:0000990",
- "UPHENO:0050014",
- "NCBITaxon:2759",
- "NCBITaxon:6072",
- "UPHENO:0087614",
- "UPHENO:0003066",
- "UPHENO:0003050",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "UPHENO:0033568",
- "UPHENO:0074330",
- "GO:0032501",
- "UPHENO:0002325",
- "UPHENO:0003698",
- "GO:0010629",
- "GO:0032502",
- "HP:0001274",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0002398",
- "HP:0000009",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "GO:0008150",
- "UPHENO:0046392",
- "UPHENO:0080382",
- "UBERON:0004708",
- "GO:0048856",
- "UPHENO:0052694",
- "UBERON:0005944",
- "UBERON:0005282",
- "UPHENO:0049966",
- "HP:0001511",
- "GO:0005623",
- "UPHENO:0011576",
- "HP:0020047",
- "HP:0001510",
- "BFO:0000015",
- "UPHENO:0050068",
- "UPHENO:0008430",
- "BFO:0000003",
- "UPHENO:0050625",
- "UPHENO:0080010",
- "GO:0031326",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002422",
- "UPHENO:0049587",
- "UPHENO:0050106",
- "HP:0009380",
- "UBERON:0002102",
- "CL:0000225",
- "UPHENO:0000543",
- "GO:0055127",
- "GO:0007605",
- "HP:0011314",
- "UPHENO:0004518",
- "UPHENO:0052161",
- "UPHENO:0002574",
- "UPHENO:0025585",
- "UPHENO:0052970",
- "UPHENO:0078316",
- "UPHENO:0002832",
- "UBERON:0004571",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UPHENO:0078092",
- "HP:0031704",
- "UPHENO:0052231",
- "UPHENO:0025507",
- "UPHENO:0005517",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UBERON:0034921",
- "UBERON:0001690",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0076901",
- "HP:0000405",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UPHENO:0002240",
- "UBERON:0015025",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0076812",
- "UPHENO:0050234",
- "UPHENO:0005512",
- "HP:0000364",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0002634",
- "UPHENO:0005513",
- "BFO:0000004",
- "UPHENO:0003412",
- "UPHENO:0005437",
- "UPHENO:0081435",
- "UPHENO:0005518",
- "HP:0007375",
- "HP:0034430",
- "UPHENO:0008668",
- "UPHENO:0009146",
- "UPHENO:0008548",
- "UPHENO:0069161",
- "UPHENO:0006894",
- "UPHENO:0080209",
- "HP:0008056",
- "GO:0010468",
- "UPHENO:0069523",
- "GO:0015833",
- "UPHENO:0011825",
- "UPHENO:0066925",
- "UBERON:0015043",
- "UPHENO:0025845",
- "HP:0000821",
- "UPHENO:0002403",
- "UPHENO:0066934",
- "UPHENO:0026073",
- "UBERON:0000949",
- "HP:0002926",
- "HP:0031071",
- "UPHENO:0003027",
- "UPHENO:0066911",
- "HP:0010935",
- "UBERON:0002368",
- "UPHENO:0086019",
- "HP:0000820",
- "UPHENO:0026312",
- "UPHENO:3000004",
- "UPHENO:0066930",
- "UPHENO:0066913",
- "UBERON:0002530",
- "UPHENO:0002529",
- "UPHENO:0026813",
- "UPHENO:0075902",
- "UPHENO:0002654",
- "UPHENO:0024906",
- "UPHENO:0066903",
- "UBERON:0002046",
- "UPHENO:0076957",
- "UPHENO:0077391",
- "UPHENO:0049890",
- "UPHENO:0002874",
- "UPHENO:0004469",
- "UBERON:0002028",
- "UPHENO:0004802",
- "UPHENO:0081601",
- "UPHENO:0071325",
- "UPHENO:0003459",
- "UBERON:0004733",
- "HP:0002438",
- "UBERON:0002616",
- "UBERON:0003834",
- "HP:0000079",
- "UPHENO:0080208",
- "UPHENO:0075948",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UPHENO:0071335",
- "HP:0012443",
- "HP:0007364",
- "GO:0065008",
- "UPHENO:0071339",
- "HP:0001631",
- "UPHENO:0071315",
- "UPHENO:0041821",
- "UPHENO:0049874",
- "HP:0002308",
- "UBERON:0000073",
- "UPHENO:0081579",
- "HP:0001367",
- "UBERON:0005174",
- "HP:0001000",
- "HP:0003468",
- "UBERON:0006555",
- "UBERON:0005434",
- "UBERON:0000982",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002713",
- "UPHENO:0002813",
- "UPHENO:0002646",
- "UBERON:0004905",
- "UPHENO:0003092",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0078067",
- "UBERON:0001436",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0004621",
- "UPHENO:0069163",
- "UBERON:0002101",
- "UPHENO:0078068",
- "UPHENO:0002616",
- "UBERON:0002090",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0026994",
- "HP:0045060",
- "UPHENO:0046405",
- "UPHENO:0078125",
- "UBERON:0010913",
- "UPHENO:0003812",
- "UBERON:0004247",
- "UBERON:0012354",
- "UPHENO:0078169",
- "UPHENO:0002674",
- "UPHENO:0076767",
- "UPHENO:0002769",
- "UPHENO:0049927",
- "UBERON:0002412",
- "HP:0001874",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0078098",
- "HP:0000370",
- "UPHENO:0002269",
- "UPHENO:0011568",
- "HP:0008058",
- "UPHENO:0002642",
- "HP:0000609",
- "UPHENO:0081264",
- "UPHENO:0050121",
- "GO:0007154",
- "GO:0140352",
- "GO:0051234",
- "GO:0009987",
- "UPHENO:0076740",
- "GO:0065007",
- "UPHENO:0049829",
- "UPHENO:0050581",
- "HP:0001655",
- "UPHENO:0002553",
- "GO:0002790",
- "UPHENO:0049871",
- "UBERON:0015021",
- "UPHENO:0009021",
- "UPHENO:0049691",
- "UPHENO:0015324",
- "HP:0032367",
- "UPHENO:0001003",
- "UPHENO:0049724",
- "UPHENO:0080351",
- "UPHENO:0050064",
- "UBERON:0010912",
- "UPHENO:0049647",
- "UBERON:0011676",
- "GO:0007267",
- "UBERON:0000179",
- "GO:0071705",
- "GO:0046903",
- "GO:0009914",
- "UPHENO:0046571",
- "UBERON:0001555",
- "HP:0025668",
- "UPHENO:0005230",
- "UPHENO:0008709",
- "HP:0012638",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0050778",
- "GO:0042592",
- "UPHENO:0025176",
- "UPHENO:0011548",
- "UPHENO:0005642",
- "GO:0031327",
- "HP:0011603",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0002704",
- "UBERON:0004119",
- "GO:0031324",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "HP:0040012",
- "HP:0001999",
- "UBERON:0001895",
- "UPHENO:0049620",
- "HP:0012795",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "HP:0003221",
- "UPHENO:0078606",
- "UPHENO:0087940",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0050126",
- "GO:0048523",
- "UBERON:0002336",
- "UPHENO:0002668",
- "HP:0002984",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0074230",
- "GO:0009889",
- "UPHENO:0084771",
- "UBERON:0004086",
- "UBERON:0001890",
- "UPHENO:0078195",
- "HP:0002060",
- "HP:0100547",
- "UPHENO:0010850",
- "UBERON:0004145",
- "UPHENO:0087920",
- "UPHENO:0003001",
- "UPHENO:0088047",
- "HP:0012210",
- "UPHENO:0002368",
- "HP:0010936",
- "UPHENO:0031125",
- "UPHENO:0046404",
- "HP:0000119",
- "UPHENO:0002219",
- "UPHENO:0066918",
- "UBERON:0006077",
- "UPHENO:0063616",
- "UPHENO:0075804",
- "UPHENO:0025882",
- "UBERON:0009856",
- "UPHENO:0002909",
- "UBERON:0010544",
- "UPHENO:0003101",
- "UBERON:0002544",
- "UBERON:0001255",
- "UPHENO:0002743",
- "UBERON:0001008",
- "UPHENO:0002636",
- "UBERON:0005173",
- "HP:0025634",
- "UPHENO:0003093",
- "UPHENO:0002576",
- "UPHENO:0002437",
- "UPHENO:0004757",
- "UBERON:0001556",
- "HP:0100691",
- "HP:0003319",
- "UBERON:0003129",
- "HP:0025031",
- "HP:0000076",
- "UPHENO:0002282",
- "UBERON:0036295",
- "UPHENO:0002827",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UBERON:0000075",
- "HP:0000252",
- "UPHENO:0004704",
- "UPHENO:0081566",
- "UBERON:0000948",
- "UPHENO:0002901",
- "HP:0000356",
- "HP:0003974",
- "UPHENO:0002865",
- ],
- "has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
- "renal system morphology phenotype",
- "kidney phenotype",
- "abdomen element phenotype",
- "Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
- "abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
- "vessel",
- "vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
- "blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
- "limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
- "anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
- "multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
- "long bone phenotype",
- "decreased length of metapodium bone 1",
- "appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
- "quality",
- "size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
- "All",
- "formed anatomical structure",
- "limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
- "appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
- "independent continuant",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
- "limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
- "compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
- "limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "mesoderm-derived structure",
- "Absent forearm bone",
- "anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
- "musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
- "endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
- "anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
- "excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
- "anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
- "anatomical entity",
- "interatrial septum",
- "phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
- "specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
- "decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UBERON:0000075",
+ "UPHENO:0002593",
+ "UPHENO:0003069",
+ "UBERON:0001474",
+ "UBERON:0002199",
+ "UPHENO:0046528",
+ "UPHENO:0002944",
+ "UPHENO:0063581",
+ "UPHENO:0002586",
+ "UPHENO:0000543",
+ "CL:0000255",
+ "UPHENO:0002896",
+ "UBERON:0005881",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0002926",
+ "UPHENO:0086700",
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "subdivision of organism along main body axis phenotype",
+ "Morphological central nervous system abnormality",
"craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
- "decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "central nervous system morphology phenotype",
+ "head",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral morphology",
+ "structure with developmental contribution from neural crest",
+ "cellular organisms",
+ "forebrain",
"central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
- "musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
- "organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
- "hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
- "Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "system process phenotype",
- "decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
- "Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
- "hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
- "lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
- "excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
- "anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
- "Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
+ "Abnormal skull morphology",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "structure with developmental contribution from neural crest phenotype",
+ "skull phenotype",
+ "main body axis",
+ "skull morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
"Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
"regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
+ "central nervous system",
+ "Abnormal axial skeleton morphology",
+ "head morphology phenotype",
+ "postcranial axial skeletal system",
+ "telencephalon morphology phenotype",
+ "craniocervical region phenotype",
+ "body proper",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "head phenotype",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "craniocervical region",
+ "closing of the ectoderm-derived structure",
+ "cranial skeletal system",
+ "digestive system",
"decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
- "Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
+ "regulation of gene expression phenotype",
"closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
+ "limb bone",
+ "anus atresia",
+ "anatomical structure atresia",
+ "digestive system morphology phenotype",
+ "brain",
+ "myeloblast",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "anatomical conduit",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "closing of the material anatomical entity",
+ "Acute lymphoblastic leukemia",
+ "hematopoietic cell",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Acute myeloid leukemia",
+ "Decreased anatomical entity mass",
"digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
- "Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
- "decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
+ "material anatomical entity mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "anatomical entity mass phenotype",
+ "decreased size of the multicellular organism",
+ "Failure to thrive",
+ "Decreased body weight",
+ "Abnormality of chromosome stability",
+ "negative regulation of biological process",
+ "negative regulation of gene expression",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "biological regulation",
+ "decreased growth",
+ "cellular process",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "decreased material anatomical entity mass",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "regulation of macromolecule metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "endochondral bone phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "integument",
+ "decreased length of anatomical structure",
+ "pigmentation",
+ "increased biological_process in skin of body",
+ "Abnormal cellular physiology",
+ "Abnormality of skin pigmentation",
"Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
+ "increased qualitatively biological_process",
"nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
+ "multicellular organismal process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Abnormal skin morphology",
+ "negative regulation of biological process phenotype",
+ "digestive system phenotype",
+ "increased pigmentation",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Macule",
+ "skeleton of limb phenotype",
+ "orifice atresia",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "Abnormality of the digestive system",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "integument phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "nucleate cell",
+ "Abnormality of the anus",
+ "tube phenotype",
+ "endochondral bone",
+ "Abnormal immune system morphology",
+ "Neoplasm by anatomical site",
+ "myeloid cell",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "brain phenotype",
"biological_process phenotype",
+ "decreased embryo development",
+ "homeostatic process phenotype",
+ "decreased developmental process",
"Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
- "process",
+ "decreased qualitatively multicellular organism development",
+ "manual digit 1 morphology phenotype",
+ "Hyperpigmentation of the skin",
"embryo development",
- "anatomical collection phenotype",
- "occurrent",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
+ "regulation of cellular process phenotype",
+ "process",
+ "biological regulation phenotype",
+ "nervous system morphology phenotype",
+ "musculature of body phenotype",
+ "skeletal system",
+ "Leukemia",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development",
+ "Abnormal leukocyte morphology",
+ "decreased qualitatively embryo development",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "decreased qualitatively developmental process",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body weight",
"delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
- "decreased qualitatively multicellular organism development",
+ "developmental process rate phenotype",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "anatomical structure development phenotype",
+ "Abnormal hand morphology",
+ "decreased anatomical structure development",
+ "biological_process rate phenotype",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "skin of body morphology phenotype",
+ "Bone marrow hypocellularity",
+ "decreased height of the anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "bone marrow cell",
+ "bone marrow",
+ "eukaryotic cell",
+ "Chromosome breakage",
+ "Abnormality of the head",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "metabolic process",
+ "decreased biological_process",
+ "Abnormality of the skeletal system",
+ "bone cell",
+ "precursor cell",
+ "aplasia or hypoplasia of anatomical entity",
+ "non-connected functional system",
+ "tissue",
+ "hematopoietic system phenotype",
+ "Phenotypic abnormality",
+ "digestive tract",
+ "Abnormality of blood and blood-forming tissues",
"embryo development phenotype",
- "delayed growth",
+ "anatomical conduit phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "digit",
+ "root",
+ "limb",
+ "Abnormal nervous system morphology",
+ "Short digit",
+ "pectoral appendage",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
"decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
- "bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
- "brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "arm",
+ "lateral structure phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "axial skeletal system",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "appendicular skeleton morphology phenotype",
+ "multi-tissue structure",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "anatomical collection",
+ "Abnormal brain morphology",
+ "autopod region",
"closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
- "structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
+ "multi-limb segment region",
+ "decreased anatomical structure mass",
+ "telencephalon phenotype",
+ "manual digit 1 or 5",
+ "increased biological_process",
+ "anatomical structure development",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "bone element",
+ "digit 1 plus metapodial segment",
+ "Chromosomal breakage induced by crosslinking agents",
+ "manual digit morphology in the manus phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical system phenotype",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "subdivision of organism along appendicular axis phenotype",
+ "negative regulation of cellular process phenotype",
+ "musculature of body",
+ "paired limb/fin",
+ "multicellular organism morphology phenotype",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "decreased multicellular anatomical structure mass",
+ "upper limb segment phenotype",
"material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
+ "mesoderm-derived structure phenotype",
+ "material entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "subdivision of skeleton",
"manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
- "regulation of macromolecule biosynthetic process",
- "articular system",
- "Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
+ "anatomical entity morphology phenotype",
+ "system",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "manual digit phenotype",
+ "taxon specific phenotype",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
"skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
+ "appendage",
+ "organism subdivision phenotype",
+ "All",
+ "decreased length of digit",
+ "Abnormality of the hand",
+ "organ phenotype",
+ "autopod region morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "decreased qualitatively growth",
+ "limb phenotype",
+ "appendage girdle complex",
+ "Abnormal appendicular skeleton morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "skin of body",
"decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "skeleton of manus",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "pectoral appendage skeleton",
+ "Hematological neoplasm",
+ "limb morphology phenotype",
+ "mesoderm-derived structure",
+ "growth phenotype",
+ "organ system subdivision",
+ "immune system",
"anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
- "integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
- "regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "occurrent",
+ "digit 1 phenotype",
+ "cell",
+ "limb endochondral element phenotype",
"homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "arm phenotype",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "Abnormal digit morphology",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "acropodium region",
+ "autopodial skeleton",
+ "appendicular skeleton phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of cellular process",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased length of manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "multicellular anatomical structure mass phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "continuant",
+ "hemolymphoid system",
+ "decreased size of the manual digit",
+ "manual digitopodium region",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "decreased size of the autopodial extension",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
- "Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
+ "manus",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "skeleton of pectoral complex",
+ "anatomical entity",
+ "skull",
+ "decreased size of the anatomical structure",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "manual digit plus metapodial segment",
+ "appendage phenotype",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "appendicular skeletal system",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit 1",
+ "tube",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "delayed growth",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "bone element phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "negative regulation of metabolic process",
+ "Short finger",
"skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit",
+ "multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "integumental system",
+ "Abnormal finger morphology",
+ "Abnormal digestive system morphology",
+ "ectoderm-derived structure atresia",
+ "decreased length of multicellular anatomical structure",
+ "bone of appendage girdle complex phenotype",
+ "decreased multicellular organism development",
+ "musculoskeletal system",
+ "digit phenotype",
+ "Abnormal cellular immune system morphology",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical structure mass phenotype",
+ "musculoskeletal system phenotype",
+ "multicellular organism",
+ "skeleton phenotype",
+ "decreased length of autopodial extension",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "musculature",
+ "regional part of nervous system",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "material anatomical entity phenotype",
+ "Localized skin lesion",
+ "phenotypic effect",
+ "decreased length of organism subdivision",
+ "Abnormality of the immune system",
+ "anatomical entity phenotype",
+ "decreased length of digit 1",
+ "skeletal element",
+ "subdivision of organism along main body axis",
+ "regulation of biological process phenotype",
+ "multicellular anatomical structure",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "limb bone phenotype",
+ "digit 1 or 5",
+ "Abnormal limb bone morphology",
+ "forelimb phenotype",
+ "embryo development rate phenotype",
+ "pectoral appendage phenotype",
],
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "name": "Fanconi anemia complementation group O",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"provided_by": "phenio_nodes",
- "xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860",
- ],
+ "xref": ["DOID:0111096", "GARD:15656", "MEDGEN:462003", "OMIM:613390", "UMLS:C3150653"],
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J",
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221",
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023",
],
"has_phenotype_label": [
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
+ "Short stature",
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"has_phenotype_closure": [
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
+ "UBERON:0000481",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0002548",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
+ "UPHENO:0003047",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "GO:0008150",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
"GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
+ "GO:0005623",
"UPHENO:0050040",
- "HP:0003221",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UPHENO:0049757",
+ "GO:0010629",
+ "UPHENO:0002411",
"UPHENO:0049904",
- "UPHENO:0050784",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
- "GO:0008152",
- "GO:0042592",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0002269",
- "HP:0012758",
- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
- "UBERON:0000019",
- "UPHENO:0069523",
- "UPHENO:0049757",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UPHENO:0002844",
- "UPHENO:0087924",
- "HP:0000478",
- "HP:0100887",
- "UPHENO:0086589",
- "UPHENO:3000007",
- "UBERON:0001456",
- "UBERON:0004088",
- "UPHENO:0002764",
- "UBERON:0013701",
- "HP:0000568",
- "UPHENO:0075219",
- "UPHENO:0078606",
- "GO:0005623",
- "UPHENO:0069064",
- "UPHENO:0003025",
- "UPHENO:0004757",
- "UBERON:0002104",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
"UBERON:0010314",
- "UPHENO:0068914",
- "UPHENO:0080209",
- "UBERON:0000033",
- "UBERON:0007811",
- "UBERON:0013702",
- "UPHENO:0005058",
- "UPHENO:0004494",
- "HP:0008897",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0054957",
- "HP:0007565",
- "UPHENO:0002548",
- "UPHENO:0003811",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0012372",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0012733",
- "GO:0043473",
- "UBERON:0002199",
- "UPHENO:0002861",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0003020",
- "UPHENO:0003049",
- "UPHENO:0004459",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0011355",
- "UPHENO:0003514",
- "UPHENO:0088186",
- "UPHENO:0052694",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
"HP:0003220",
- "HP:0002817",
- "UBERON:0010230",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
- "UBERON:0000075",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
"UPHENO:0003069",
- "UPHENO:0003812",
- "UBERON:0006058",
- "UPHENO:0002635",
- "UPHENO:0069605",
- "UBERON:0010712",
- "UPHENO:0080126",
- "HP:0000118",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012475",
- "HP:0000957",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
- "HP:0009815",
- "UBERON:0002428",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
"UBERON:0004121",
- "UPHENO:0050106",
- "UPHENO:0002648",
- "UPHENO:0080099",
+ "UPHENO:0053580",
"UBERON:5006048",
- "HP:0001871",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
"UBERON:0001442",
- "UPHENO:0001003",
- "UPHENO:0075997",
- "UPHENO:0068971",
- "UPHENO:0002870",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UBERON:0010538",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0000001",
- "UPHENO:0002433",
- "UPHENO:0046552",
- "UPHENO:0050034",
- "HP:0006265",
- "HP:0045060",
- "UBERON:0001440",
- "UPHENO:0002554",
- "GO:0009890",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0069684",
- "UBERON:0002102",
- "UPHENO:0003095",
- "UPHENO:0002896",
- "HP:0040012",
- "UBERON:0004710",
- "UPHENO:0050068",
- "UBERON:0019231",
- "UPHENO:0002586",
- "UBERON:0010708",
- "UBERON:0000026",
- "HP:0011927",
- "HP:0011297",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0084763",
- "HP:0009381",
- "HP:0005927",
- "UBERON:5001463",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
"UPHENO:0003415",
- "UPHENO:0069161",
- "HP:0000924",
- "GO:0031323",
- "HP:0033127",
- "UPHENO:0053330",
- "GO:0050794",
- "UBERON:0000061",
- "UPHENO:0087907",
- "UPHENO:0003082",
- "UPHENO:0076703",
- "UPHENO:0002632",
- "UBERON:5002389",
- "GO:0010558",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
"UPHENO:0076723",
- "UPHENO:0002949",
- "UBERON:0004288",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
"UPHENO:0076740",
- "UPHENO:0002526",
- "GO:0048519",
- "UPHENO:0087006",
- "UPHENO:0076724",
- "UBERON:0001460",
- "GO:0050789",
- "UPHENO:0080393",
- "HP:0000152",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
"UPHENO:0046505",
- "UPHENO:0086633",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
"UPHENO:0086635",
- "UPHENO:0053456",
- "UPHENO:0046411",
- "GO:0032502",
- "UBERON:0000479",
- "UBERON:0004765",
- "UBERON:0004120",
- "UBERON:0002091",
- "UBERON:0002544",
- "UPHENO:0005597",
- "UPHENO:0004476",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
"HP:0002813",
- "UPHENO:0080377",
- "HP:0025461",
- "UPHENO:0002600",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "UPHENO:0068838",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
"UBERON:0011216",
- "UBERON:0006048",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
+ "GO:0009890",
+ "UPHENO:0046741",
"RO:0002577",
- "UPHENO:0086700",
- "UBERON:0002416",
- "HP:0001172",
- "CL:0000000",
- "UPHENO:0002905",
- "UPHENO:0076692",
- "UPHENO:0046624",
- "UPHENO:0052778",
- "HP:0001155",
- "UBERON:0015061",
- "GO:0009892",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0004375",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0081423",
+ "UBERON:0010538",
"UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0002910",
- "UPHENO:0002944",
- "UBERON:0007272",
- "HP:0009778",
- "UBERON:0004381",
- "UBERON:0015212",
- "UPHENO:0049775",
- "UBERON:5002544",
- "UBERON:0011582",
- "UPHENO:0002650",
- "UBERON:0006717",
- "UPHENO:0076727",
- "UBERON:0005881",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0004708",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
+ "HP:0040012",
+ "UPHENO:0046397",
"UPHENO:0001001",
- "UBERON:0002204",
- "HP:0009115",
- "UBERON:0000465",
- "HP:0040068",
- "UPHENO:0046740",
- "UPHENO:0002782",
- "UPHENO:0050126",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
"UPHENO:0046445",
- "UPHENO:0046741",
- "UPHENO:0002746",
- "UPHENO:0002948",
- "UPHENO:0052178",
- "UPHENO:0000543",
- "UPHENO:0003799",
- "UPHENO:0002593",
- "GO:0065007",
- "UPHENO:0086172",
- "HP:0000271",
- "UPHENO:0046750",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
+ "UPHENO:0000541",
+ "UPHENO:0084834",
"UPHENO:0046426",
- "GO:0010468",
- "UBERON:0019221",
- "UPHENO:0003005",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UPHENO:0012308",
- "UBERON:0000383",
- "UPHENO:0080114",
- "UPHENO:0002530",
- "GO:0010629",
- "UPHENO:0005596",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0004456",
- "UPHENO:0001002",
- "UBERON:0012141",
+ "HP:0011314",
+ "NCBITaxon:1",
"UPHENO:0069327",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UPHENO:0003410",
- "UPHENO:0005214",
+ "UBERON:0003103",
+ "UPHENO:0069030",
"HP:0011017",
- "BFO:0000015",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
+ "UPHENO:0049620",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0050784",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0033127",
+ "HP:0002818",
+ "UPHENO:0074335",
+ "BFO:0000004",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
+ "UPHENO:0002559",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0049868",
"UPHENO:0012312",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UPHENO:0002866",
- "BFO:0000020",
- "UPHENO:0005642",
- "GO:0060255",
- "HP:0006496",
- "HP:0005561",
- "UBERON:0002389",
+ "UBERON:0013702",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0076692",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
"UPHENO:0002926",
- "HP:0009601",
- "UPHENO:0002976",
- "GO:0008150",
- "UBERON:0001015",
- "UPHENO:0003227",
- "UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002559",
- "UPHENO:0003065",
- "BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
+ "UPHENO:0002385",
+ "UPHENO:0001303",
+ "UBERON:8450002",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
+ "UBERON:0000489",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
"UBERON:0001062",
- "UBERON:0001474",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000062",
- "UBERON:0010740",
- "GO:0031049",
- "UPHENO:0000541",
- "UBERON:0002529",
- "UBERON:0034923",
- "UPHENO:0046707",
- "UPHENO:0002983",
- "GO:0031324",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UBERON:0005451",
- "UPHENO:0002964",
- "UPHENO:0069062",
- "UPHENO:0012440",
- "HP:0011842",
- "UPHENO:0069266",
- "HP:0001511",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
+ "UPHENO:0002526",
"UPHENO:0002731",
- "UBERON:0010707",
- "UBERON:0001032",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0050007",
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
"HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "CL:0001035",
- "HP:0001574",
- "UBERON:0002193",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "HP:0012145",
- "UBERON:0002405",
- "HP:0002715",
- "UPHENO:0005647",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0012139",
- "GO:0007275",
- "UPHENO:0046528",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UPHENO:0005573",
- "HP:0008056",
- "UBERON:0000970",
- "UBERON:0001444",
- "UPHENO:0080382",
- "HP:0012759",
- "GO:0048856",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
"UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0049966",
- "UPHENO:0005433",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0001434",
- "UPHENO:0052160",
- "BFO:0000003",
- "GO:0009790",
- "HP:0000234",
- "UPHENO:0005097",
- "UPHENO:0054970",
],
"has_phenotype_closure_label": [
- "Chromosome breakage",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
+ "muscle structure",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
"negative regulation of biological process phenotype",
- "regulation of biological process",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
"negative regulation of gene expression",
- "metabolic process",
"homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of gene expression phenotype",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
"regulation of macromolecule biosynthetic process",
"negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
"biological regulation phenotype",
- "regulation of gene expression",
- "negative regulation of cellular biosynthetic process",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "Abnormality of the nervous system",
- "Abnormal nervous system physiology",
- "anatomical system physiology phenotype",
- "anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "nervous system phenotype",
- "Neurodevelopmental abnormality",
- "Abnormality of the head",
- "sense organ phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
"regulation of biosynthetic process",
- "sense organ",
- "entire sense organ system",
- "decreased size of the eyeball of camera-type eye",
- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
- "decreased size of the sense organ",
- "visual system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "decreased size of the organ",
- "main body axis",
"negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
- "Abnormality of globe size",
- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
"ectoderm-derived structure",
- "Cafe-au-lait spot",
- "ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
"decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
"manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
"Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
+ "male reproductive organ phenotype",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
+ "male reproductive organ",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
"anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
+ "Renal insufficiency",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
+ "Growth delay",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
"decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
- "regulation of cellular biosynthetic process",
- "decreased length of digit 1",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
+ "renal system physiology phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
+ "abdominal segment element physiology phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "viscus",
+ "paired limb/fin skeleton",
"limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "segment of autopod",
- "manus",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
"phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
- "Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
+ "lateral structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
"pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
"skeleton of pectoral complex",
- "manual digit plus metapodial segment",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
"musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
- "regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "long bone",
+ "skeleton",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
+ "organism subdivision phenotype",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
- "endochondral bone",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
- "upper limb segment",
- "Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
- "arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
+ "decreased length of digit 1 or 5",
"appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
- "manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
- "multicellular organism",
- "embryo development",
+ "Abnormality of the musculature of the upper limbs",
"endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "camera-type eye phenotype",
- "digit 1 phenotype",
- "multicellular anatomical structure phenotype",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "Abnormal cellular phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
"decreased length of multicellular anatomical structure",
- "mesoderm-derived structure",
- "Abnormal digit morphology",
- "digit 1",
- "Growth delay",
- "autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "All",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
+ "growth",
+ "organ system subdivision phenotype",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
- "decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
- "decreased length of digit 1 or 5",
- "developmental process rate phenotype",
- "decreased length of organism subdivision",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "developmental process",
"multicellular organism morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "material entity",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
"homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
+ "Abnormality of the kidney",
+ "trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
+ "material anatomical entity phenotype",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
+ "multicellular organism",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
+ "subdivision of trunk phenotype",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
+ "anatomical entity",
+ "compound organ",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
+ "organ",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
+ "multicellular anatomical structure",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
"size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
"digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype",
+ "renal system",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
+ "decreased height of the multicellular organism",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity",
],
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0014638",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "name": "Fanconi anemia complementation group T",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0111080", "GARD:16213", "MEDGEN:934619", "OMIM:617243", "UMLS:C4310652"],
+ "xref": ["DOID:0111081", "GARD:16111", "MEDGEN:896157", "OMIM:616435", "UMLS:C4084840"],
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia",
+ "FANCT",
+ "Fanconi Anemia, complementation group type T",
+ "Fanconi anaemia caused by mutation in UBE2T",
+ "Fanconi anaemia complementation group type T",
+ "Fanconi anemia caused by mutation in UBE2T",
+ "Fanconi anemia complementation group type T",
+ "Fanconi anemia, complementation group T",
+ "UBE2T Fanconi anaemia",
+ "UBE2T Fanconi anemia",
],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
+ "HP:0001876",
"HP:0001873",
+ "HP:0009778",
"HP:0005528",
- "HP:0006254",
- "HP:0003221",
+ "HP:0009942",
+ "HP:0004808",
"HP:0001903",
+ "HP:0003221",
"HP:0004322",
- "HP:0000252",
+ "HP:0000365",
+ "HP:0010628",
],
"has_phenotype_label": [
- "Neutropenia",
+ "Pancytopenia",
"Thrombocytopenia",
+ "Short thumb",
"Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
+ "Duplication of thumb phalanx",
+ "Acute myeloid leukemia",
"Anemia",
+ "Chromosomal breakage induced by crosslinking agents",
"Short stature",
- "Microcephaly",
+ "Hearing impairment",
+ "Facial palsy",
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 11,
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0081700",
"HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
+ "UBERON:0001577",
+ "UPHENO:0002908",
+ "UPHENO:0076710",
+ "UPHENO:0004523",
+ "UPHENO:0004492",
+ "HP:0000301",
+ "UPHENO:0003081",
"HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
+ "UPHENO:0002928",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0010827",
+ "HP:0011805",
+ "UBERON:0013700",
+ "UBERON:0000010",
+ "UPHENO:0078730",
+ "UPHENO:0080555",
+ "HP:0031910",
+ "UPHENO:0005116",
+ "UPHENO:0002320",
+ "HP:0012638",
+ "UPHENO:0004508",
+ "HP:0006824",
+ "UBERON:0004473",
+ "HP:0011804",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0001033",
+ "UBERON:0000122",
+ "UBERON:0034713",
+ "UPHENO:0002759",
+ "UPHENO:0002562",
+ "UBERON:0001444",
+ "HP:0001324",
+ "UPHENO:3000000",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UBERON:0004461",
+ "UPHENO:0003026",
+ "UBERON:0000020",
+ "UBERON:0001032",
+ "UPHENO:0002386",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0002267",
+ "UPHENO:0002308",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0002866",
+ "UPHENO:0052970",
+ "UPHENO:0003025",
+ "UPHENO:0005206",
+ "UBERON:0011676",
"UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
- "UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
+ "UPHENO:0002553",
+ "GO:0050954",
+ "GO:0032501",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "GO:0007605",
+ "UPHENO:0002764",
+ "UPHENO:0050106",
+ "GO:0060255",
+ "UPHENO:0002352",
+ "UPHENO:0052231",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005214",
+ "UPHENO:0052159",
+ "UPHENO:0002880",
+ "UPHENO:0005518",
+ "UPHENO:0005596",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "UBERON:0006717",
+ "CL:0002191",
+ "UBERON:0001690",
+ "UPHENO:0069254",
"UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
"UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "BFO:0000015",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "UPHENO:0049587",
+ "HP:0003220",
+ "GO:0009889",
+ "UBERON:0010741",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
+ "GO:0031326",
+ "UBERON:5001463",
"UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
+ "UPHENO:0050065",
+ "UPHENO:0050040",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:0014892",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "CL:0002092",
+ "GO:0010605",
+ "UBERON:0000475",
+ "GO:0050877",
+ "HP:0001903",
+ "UPHENO:0002433",
+ "CL:0008001",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "HP:0002664",
+ "HP:0001881",
+ "HP:0001909",
+ "HP:0010987",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0049699",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0052178",
+ "UBERON:5102389",
+ "UPHENO:0052161",
+ "HP:0009602",
+ "HP:0009997",
+ "UBERON:0004249",
+ "UBERON:0002495",
+ "UBERON:0004381",
+ "GO:0042592",
+ "HP:0005918",
+ "UBERON:0012151",
+ "UPHENO:0002948",
+ "UBERON:0012357",
+ "UPHENO:0002926",
+ "UBERON:0001436",
+ "UBERON:0008229",
+ "HP:0005528",
+ "UBERON:0000075",
+ "UPHENO:0003022",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UPHENO:0084448",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UPHENO:0046741",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0088186",
+ "UPHENO:0002870",
+ "UBERON:5102544",
+ "UPHENO:0002648",
"UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
+ "UPHENO:0002945",
+ "HP:0000271",
+ "GO:0010629",
+ "HP:0002813",
+ "UPHENO:0003082",
"HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
+ "UPHENO:0075195",
+ "UBERON:0002529",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0004142",
+ "UBERON:0010543",
+ "HP:0001872",
+ "UBERON:0019221",
"BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
+ "UBERON:0002101",
+ "UBERON:0002204",
+ "UPHENO:0005517",
+ "UPHENO:0002600",
+ "UBERON:0005897",
+ "UBERON:0002389",
+ "UBERON:0000026",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0005513",
+ "UBERON:5101463",
+ "UPHENO:0004909",
+ "UPHENO:0004476",
+ "UPHENO:0005512",
+ "UBERON:0001474",
+ "UPHENO:0063794",
+ "UBERON:0003221",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UPHENO:0069266",
+ "UBERON:0004288",
+ "UBERON:0002376",
+ "UPHENO:0003227",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0076723",
"UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
+ "UPHENO:0084763",
+ "UBERON:0012475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "HP:0000924",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UBERON:0015024",
+ "UPHENO:0077391",
+ "UPHENO:0080126",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UPHENO:0001003",
+ "HP:0011927",
+ "UBERON:0010740",
+ "HP:0000364",
+ "RO:0002577",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "UBERON:0011779",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "HP:0009815",
+ "GO:0007600",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0002896",
+ "UBERON:0006058",
+ "UPHENO:0080079",
+ "UBERON:0015063",
+ "UBERON:0010538",
+ "UPHENO:0081423",
+ "UBERON:0013701",
+ "HP:0009142",
+ "UPHENO:0002708",
+ "UBERON:0001647",
+ "UPHENO:0003095",
+ "HP:0012145",
+ "BFO:0000003",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:5006048",
"UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
+ "CL:0000255",
+ "UBERON:0002398",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0002385",
+ "UPHENO:0003812",
+ "UPHENO:0002731",
"UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
- "UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
+ "GO:0048519",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "UPHENO:0069236",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UBERON:0010712",
+ "UPHENO:0086633",
"CL:0000763",
- "UPHENO:0081547",
- "HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
- "CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
+ "UPHENO:0050620",
+ "UBERON:5002389",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UBERON:0000465",
+ "UPHENO:0002650",
+ "UPHENO:0011531",
+ "UPHENO:0012274",
+ "UPHENO:0079876",
+ "UPHENO:0086700",
+ "UPHENO:0002604",
+ "UBERON:0010688",
+ "HP:0004275",
+ "UPHENO:0003047",
+ "UBERON:5106048",
+ "HP:0033127",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0049775",
+ "UPHENO:0046528",
+ "UPHENO:0002559",
+ "UPHENO:0002782",
+ "UPHENO:0085344",
+ "UPHENO:0075159",
+ "UPHENO:0001001",
+ "HP:0040012",
+ "UBERON:0001456",
+ "UBERON:0012358",
+ "UPHENO:0069674",
+ "UBERON:0001463",
+ "UPHENO:0069327",
+ "HP:0030319",
+ "HP:0001873",
+ "UBERON:0015025",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0003620",
+ "UBERON:0010758",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UPHENO:0004494",
+ "GO:0009892",
+ "UPHENO:0002733",
+ "UPHENO:0080352",
+ "HP:0005561",
+ "UBERON:0002390",
+ "HP:0001172",
+ "UPHENO:0063787",
+ "UPHENO:0004459",
+ "HP:0009942",
+ "UPHENO:0002944",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0001876",
+ "UPHENO:0002586",
+ "UPHENO:0088162",
+ "UPHENO:0003432",
+ "UPHENO:0005092",
+ "UBERON:0000033",
+ "UPHENO:0002568",
"UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
- "NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
+ "HP:0001871",
+ "GO:0003008",
+ "HP:0001877",
+ "UPHENO:0012440",
+ "UBERON:0001630",
+ "UBERON:0005881",
"UPHENO:0080010",
- "HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
+ "HP:0011844",
"CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
+ "UPHENO:0046483",
+ "UPHENO:0069684",
+ "HP:0000365",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0032251",
+ "UPHENO:0088166",
+ "HP:0011875",
+ "UPHENO:0076675",
+ "UBERON:0010912",
+ "UPHENO:0077418",
+ "UPHENO:0082875",
+ "UBERON:0010708",
+ "UBERON:0004710",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UBERON:0012141",
+ "UPHENO:0077373",
+ "UBERON:0004765",
+ "HP:0031704",
"UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
- "UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
- "UPHENO:0005092",
- "UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
- "UPHENO:0050007",
- "UBERON:0015203",
+ "UPHENO:0002570",
+ "GO:0005623",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001434",
+ "UPHENO:0085302",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0002405",
+ "UPHENO:0002903",
+ "UBERON:0000383",
+ "HP:0005922",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0012308",
+ "CL:0000329",
+ "UBERON:0011250",
+ "UPHENO:0002526",
+ "UPHENO:0069062",
+ "UPHENO:0005433",
+ "UPHENO:0052165",
+ "HP:0009381",
+ "UPHENO:0086173",
+ "UPHENO:0002536",
"UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0087123",
+ "UBERON:0002428",
+ "CL:0000233",
+ "UPHENO:0088170",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "CL:0000839",
+ "UBERON:0010959",
+ "UBERON:0004375",
"CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
+ "UBERON:0010707",
+ "UPHENO:0076692",
+ "UPHENO:0002861",
"HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
- "GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
- "GO:0042592",
+ "UBERON:0015023",
+ "UBERON:0015203",
+ "UBERON:0012139",
+ "CL:0000457",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "UPHENO:0002910",
+ "CL:0000738",
+ "HP:0011873",
+ "UBERON:0004456",
"GO:0008152",
- "CHEBI:51143",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
"HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
- "GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
- "UPHENO:0078606",
- "GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
- "UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
- "UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
- "UPHENO:0050778",
- "UPHENO:0086172",
- "GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
- "UBERON:0000153",
- "UPHENO:0002536",
- "GO:0009890",
- "HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
- "HP:0040012",
- "UPHENO:0049620",
- "UPHENO:0075804",
"CL:0000232",
- "GO:0040007",
- "GO:0048519",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0012354",
+ "BFO:0000004",
+ "CL:0002242",
+ "HP:0004377",
+ "UPHENO:0002897",
+ "UBERON:0011216",
+ "UBERON:0034923",
+ "HP:0002488",
+ "UBERON:0008785",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0002193",
"UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
- "UPHENO:0050784",
- "GO:0010629",
- "UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
- "UPHENO:0088162",
- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
+ "CL:0000458",
+ "CL:0000225",
+ "BFO:0000002",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0002530",
+ "UBERON:0002544",
+ "CL:0000988",
+ "UPHENO:0086172",
+ "UPHENO:0002554",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "HP:0010628",
+ "UBERON:0002371",
"HP:0000002",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "GO:0010556",
+ "CL:0000151",
+ "CL:0000219",
+ "UBERON:0012150",
+ "UBERON:0000467",
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
+ "subdivision of head",
+ "nerve",
+ "gustatory system phenotype",
+ "Abnormality of facial musculature",
"Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "facial nerve phenotype",
+ "cranial muscle phenotype",
+ "craniofacial/craniocervical phenotype",
+ "craniocervical muscle",
+ "face",
+ "Abnormal muscle physiology",
+ "skeletal musculature phenotype",
+ "multi cell part structure",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
+ "facial nerve",
+ "craniocervical muscle phenotype",
+ "muscle organ physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "multi cell part structure phenotype",
+ "cranial or facial muscle phenotype",
+ "skeletal musculature of head",
+ "gustatory system",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "face phenotype",
+ "axial musculature",
+ "decreased muscle organ strength",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "Abnormality of facial soft tissue",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "nerve phenotype",
+ "sensory system",
+ "system process phenotype",
+ "decreased qualitatively nervous system process",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
"structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
+ "Abnormal ear physiology",
+ "nervous system process",
+ "nervous system",
+ "multicellular organismal process",
+ "nervous system process phenotype",
+ "multicellular organismal process phenotype",
+ "sensory perception phenotype",
+ "system process",
+ "sense organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "sensory perception of sound",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "vestibulo-auditory system",
+ "main body axis",
+ "subdivision of organism along main body axis phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "phenotypic effect",
+ "entire sense organ system",
+ "appendicular skeleton phenotype",
+ "decreased qualitatively sensory perception",
"head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
+ "manual digit phenotype",
+ "sense organ",
+ "skeletal muscle organ, vertebrate phenotype",
"body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
+ "Hearing impairment",
+ "Abnormality of thrombocytes",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "decreased size of the multicellular organism",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "negative regulation of biological process phenotype",
"negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
+ "negative regulation of gene expression",
+ "organism subdivision",
+ "manual digit 1 plus metapodial segment",
+ "biological regulation",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "process",
+ "Thrombocytopenia",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
"number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "obsolete regulation of cellular metabolic process",
+ "number of hematopoietic cell phenotype",
+ "Abnormal cellular physiology",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "decreased length of manual digit 1 or 5",
+ "regulation of gene expression phenotype",
"cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
- "negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
+ "endochondral bone phenotype",
+ "regulation of biosynthetic process phenotype",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "erythrocyte morphology phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "manual digit 1 phalanx endochondral element",
+ "Acute myeloid leukemia",
+ "endochondral bone",
"Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
+ "craniocervical region phenotype",
+ "Neoplasm by anatomical site",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "ear",
+ "decreased qualitatively system process",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "peripheral nervous system",
+ "bone of pectoral complex",
+ "cellular process",
+ "Duplication of phalanx of hand",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical system physiology phenotype",
+ "skeleton of digitopodium",
"Abnormal bone marrow cell morphology",
- "multicellular organism",
+ "autopod region phenotype",
+ "skeleton of manual digitopodium",
+ "individual digit of digitopodial skeleton",
+ "manual digit bone",
+ "digit 1 digitopodial skeleton",
+ "Abnormality of thumb phalanx",
+ "biological_process phenotype",
+ "Hearing abnormality",
+ "manual digit digitopodial skeleton",
+ "obsolete regulation of cellular biosynthetic process",
+ "skeleton of manual acropodium",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "decreased size of the autopodial extension",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "forelimb long bone",
+ "Duplication of thumb phalanx",
+ "Duplication of bones involving the upper extremities",
+ "manual digitopodium bone",
+ "digitopodium bone",
+ "decreased qualitatively sensory perception of sound",
+ "nerve of head region",
+ "phalanx of manus",
+ "Bone marrow hypocellularity",
+ "limb segment",
+ "cranial muscle",
+ "digit 1 or 5",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "pectoral appendage",
+ "Hematological neoplasm",
+ "decreased sensory perception of sound",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "arm",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "sensory perception of sound phenotype",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
+ "acropodial skeleton",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "decreased system process",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "digit 1",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
"Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
+ "limb",
+ "digit",
+ "endochondral element",
+ "Chromosomal breakage induced by crosslinking agents",
+ "appendicular skeleton morphology phenotype",
+ "manus bone",
+ "paralysed anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "Leukemia",
+ "skeletal system",
+ "musculature of body phenotype",
+ "digit phenotype",
+ "sensory perception",
+ "Abnormality of the face",
+ "decreased length of manual digit 1",
+ "Abnormal digit morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "musculoskeletal system phenotype",
+ "limb morphology phenotype",
+ "bone cell",
+ "Abnormality of the skeletal system",
+ "number of myeloid cell phenotype",
+ "subdivision of skeleton",
+ "manual digit",
"anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
+ "system",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
"Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "autopod region morphology phenotype",
+ "decreased length of anatomical structure",
"anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
+ "paired limb/fin skeleton",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "limb phenotype",
+ "appendage girdle complex",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "Pancytopenia",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "manual digit 1 digitopodial skeleton",
+ "skeleton of manus",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "Abnormal cellular immune system morphology",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "organism subdivision phenotype",
+ "appendage",
+ "growth phenotype",
+ "limb long bone",
+ "cell",
+ "limb endochondral element phenotype",
+ "homeostatic process",
+ "arm phenotype",
+ "anterior region of body",
+ "Abnormal finger phalanx morphology",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "occurrent",
+ "Abnormality of the upper limb",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "regulation of cellular process",
+ "decreased length of organism subdivision",
+ "platelet phenotype",
+ "ear physiology phenotype",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "delayed growth",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "long bone",
+ "skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased size of the anatomical structure",
+ "manual digit 1 morphology phenotype",
+ "upper limb segment phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "peripheral nervous system phenotype",
+ "acropodium region",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "Facial palsy",
+ "manual digitopodium region",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Weakness of facial musculature",
+ "decreased size of the manual digit",
+ "appendage phenotype",
+ "Abnormal hand morphology",
+ "phalanx endochondral element",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "bone element phenotype",
+ "autopod endochondral element",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "erythroid lineage cell morphology phenotype",
"anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "negative regulation of metabolic process",
+ "Short finger",
+ "Abnormal finger morphology",
+ "vestibulo-auditory system phenotype",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
+ "manus",
+ "anatomical structure",
+ "Abnormal platelet count",
+ "phenotype",
+ "appendicular skeletal system",
+ "aplasia or hypoplasia of manual digit 1",
+ "Abnormality of the ear",
+ "decreased length of manual digit",
+ "Duplication of hand bones",
+ "pectoral appendage phenotype",
+ "decreased nervous system process",
+ "non-connected functional system",
"aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "decreased number of cell",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "decreased biological_process",
"metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased length of autopodial extension",
"Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
+ "bone of appendage girdle complex phenotype",
"oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
+ "anatomical entity phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "blood cell phenotype",
+ "manual digit 1 phalanx",
+ "limb bone",
+ "mesoderm-derived structure",
+ "Abnormality of limb bone",
+ "multicellular organism phenotype",
+ "Muscle weakness",
+ "ear phenotype",
+ "neuron projection bundle phenotype",
+ "decreased number of material anatomical entity",
+ "hematopoietic system phenotype",
+ "manual digit 1 or 5",
"number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
+ "head",
+ "platelet",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "digit plus metapodial segment",
+ "immune system",
+ "skeletal muscle organ, vertebrate",
+ "paired limb/fin segment phenotype",
+ "entity",
+ "limb segment phenotype",
+ "decreased length of digit",
+ "myeloblast",
+ "decreased number of anatomical structure",
+ "Abnormality of blood and blood-forming tissues",
+ "Phenotypic abnormality",
+ "autopod region",
+ "craniocervical region musculature",
+ "anatomical collection",
+ "skeletal element phenotype",
+ "All",
+ "organ",
+ "decreased height of the anatomical entity",
"regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth",
+ "multicellular organism morphology phenotype",
+ "cranial or facial muscle",
+ "serotonin secreting cell",
+ "multicellular organism",
+ "sense organ phenotype",
+ "homeostatic process phenotype",
+ "cranial nerve",
+ "bone element",
+ "decreased qualitatively biological_process",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "multicellular anatomical structure",
+ "biogenic amine secreting cell",
+ "taxon specific phenotype",
+ "forelimb phenotype",
+ "biological regulation phenotype",
+ "anatomical entity height phenotype",
+ "hematopoietic cell",
+ "negative regulation of cellular process",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "phalanx",
+ "number of platelet phenotype",
+ "Abnormality of the hand",
+ "autopod bone",
+ "organ system subdivision",
+ "skeleton of limb phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal appendicular skeleton morphology",
+ "nervous system physiology phenotype",
+ "eukaryotic cell",
+ "musculature of face",
+ "musculature",
+ "decreased qualitatively multicellular organismal process",
+ "musculoskeletal system",
+ "sensory system phenotype",
+ "decreased number of platelet",
+ "decreased length of digit 1",
+ "skeletal element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "blood cell",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "decreased number of anatomical entity",
+ "biological_process rate phenotype",
+ "decreased number of hematopoietic cell",
+ "precursor cell",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "material entity",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal seventh cranial physiology",
+ "nucleate cell",
+ "musculature phenotype",
+ "anatomical entity",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "bone marrow",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "Chromosome breakage",
+ "secretory cell",
+ "autopodial skeleton",
+ "tissue",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "continuant",
+ "Abnormal limb bone morphology",
],
},
{
- "id": "MONDO:0013565",
+ "id": "MONDO:0009213",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
+ "name": "Fanconi anemia complementation group C",
+ "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.",
"provided_by": "phenio_nodes",
"xref": [
- "DOID:0111086",
- "GARD:15753",
- "MEDGEN:854017",
- "NCIT:C125708",
- "OMIM:614082",
- "UMLS:C3469527",
+ "DOID:0111087",
+ "GARD:15168",
+ "MEDGEN:483324",
+ "NCIT:C125704",
+ "OMIM:227645",
+ "UMLS:C3468041",
],
"synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G",
+ "FA3",
+ "FACC",
+ "FANCC",
+ "Fanconi Anemia, complementation group type C",
+ "Fanconi anaemia complementation group type C",
+ "Fanconi anemia complementation group C",
+ "Fanconi anemia complementation group type C",
+ "Fanconi anemia, complementation group C",
+ "Fanconi pancytopenia type 3",
+ "Fanconi pancytopenia, type 3",
+ "facc",
],
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001017",
"HP:0001875",
- "HP:0002863",
- "HP:0001510",
+ "HP:0000104",
+ "HP:0003974",
+ "HP:0000028",
+ "HP:0001876",
+ "HP:0000325",
+ "HP:0009778",
"HP:0001873",
- "HP:0007565",
+ "HP:0001511",
+ "HP:0001896",
+ "HP:0009777",
"HP:0000568",
- "HP:0001172",
+ "HP:0001518",
+ "HP:0011940",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0005528",
+ "HP:0000978",
+ "HP:0009942",
+ "HP:0000953",
"HP:0001903",
- "HP:0003220",
+ "HP:0000957",
+ "HP:0000815",
+ "HP:0001629",
"HP:0001909",
- "HP:0000252",
+ "HP:0000081",
+ "HP:0000085",
+ "HP:0000086",
+ "HP:0001371",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0020073",
+ "HP:0000486",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000286",
],
"has_phenotype_label": [
+ "Anemic pallor",
"Neutropenia",
- "Myelodysplasia",
- "Growth delay",
+ "Renal agenesis",
+ "Absent radius",
+ "Cryptorchidism",
+ "Pancytopenia",
+ "Triangular face",
+ "Short thumb",
"Thrombocytopenia",
- "Multiple cafe-au-lait spots",
+ "Intrauterine growth retardation",
+ "Reticulocytopenia",
+ "Absent thumb",
"Microphthalmia",
- "Abnormal thumb morphology",
+ "Small for gestational age",
+ "Anterior wedging of T12",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bone marrow hypocellularity",
+ "Bruising susceptibility",
+ "Duplication of thumb phalanx",
+ "Hyperpigmentation of the skin",
"Anemia",
- "Abnormality of chromosome stability",
+ "Cafe-au-lait spot",
+ "Hypergonadotropic hypogonadism",
+ "Ventricular septal defect",
"Leukemia",
- "Microcephaly",
+ "Duplicated collecting system",
+ "Horseshoe kidney",
+ "Ectopic kidney",
+ "Flexion contracture",
+ "Short stature",
+ "Hearing impairment",
+ "Hypopigmented macule",
+ "Strabismus",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Epicanthus",
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 39,
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
+ "UPHENO:0001231",
+ "UPHENO:0072402",
+ "UPHENO:0072263",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0001369",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0001147",
+ "UPHENO:0005319",
+ "UPHENO:0072195",
+ "UPHENO:0075878",
+ "UBERON:0012180",
+ "UBERON:0034944",
+ "UPHENO:0003021",
+ "UPHENO:0001134",
+ "UPHENO:0072293",
+ "UPHENO:0076761",
+ "UPHENO:0002643",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0087307",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0032039",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002301",
+ "UPHENO:0072332",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "HP:0000364",
+ "UPHENO:0052161",
+ "HP:0031704",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081440",
+ "UPHENO:0046699",
+ "HP:0003011",
+ "UPHENO:0087888",
+ "UPHENO:0046706",
+ "UPHENO:0076710",
+ "HP:0034392",
+ "UPHENO:0002825",
+ "HP:0001371",
+ "UBERON:0000043",
+ "UPHENO:0046759",
+ "HP:0034430",
+ "UPHENO:0002712",
+ "UPHENO:0002699",
+ "UPHENO:0002698",
+ "UPHENO:0003047",
+ "UBERON:0007846",
+ "HP:0011843",
+ "UPHENO:0002564",
+ "UPHENO:0069218",
+ "UPHENO:0046638",
+ "UPHENO:0046606",
+ "UBERON:0007845",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
+ "HP:0000086",
+ "HP:0000085",
+ "HP:0100261",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UBERON:0000982",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "UPHENO:0033607",
+ "HP:0030680",
+ "UBERON:0005181",
+ "UPHENO:0002531",
+ "UPHENO:0015324",
+ "UPHENO:0004827",
+ "UPHENO:0033560",
+ "UPHENO:0002634",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0005178",
+ "UPHENO:0003815",
+ "UPHENO:0015308",
+ "UBERON:0000948",
+ "UBERON:0004151",
+ "UBERON:0015410",
+ "UBERON:0002099",
+ "UPHENO:0003828",
+ "GO:0006259",
+ "UPHENO:0015281",
+ "UBERON:0000915",
+ "UPHENO:0033604",
+ "UPHENO:0003086",
+ "UPHENO:0075655",
+ "HP:0010438",
+ "UPHENO:0002386",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "HP:0030669",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0004831",
+ "HP:0000135",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0001903",
+ "UPHENO:0054970",
+ "HP:0003549",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0001000",
+ "HP:0000953",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "MPATH:105",
+ "MPATH:603",
+ "HP:0000978",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "HP:0009943",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
+ "UPHENO:0002267",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
+ "UPHENO:0002269",
+ "UPHENO:0003001",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0012141",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "UPHENO:0052694",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0086855",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UPHENO:0002219",
"UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "HP:0001939",
+ "UBERON:0001463",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "UPHENO:0072359",
+ "GO:0050954",
+ "UPHENO:0076744",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0002199",
+ "HP:0003312",
+ "UPHENO:0063722",
+ "UPHENO:0041467",
+ "GO:0048519",
+ "UPHENO:0072414",
+ "UPHENO:0002927",
+ "UBERON:0001130",
+ "UBERON:0011137",
+ "UPHENO:0003038",
+ "UPHENO:0041221",
+ "UBERON:0001075",
+ "UBERON:0015023",
+ "UPHENO:0008743",
+ "UPHENO:0002813",
"HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
+ "HP:0003468",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "UPHENO:0084420",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UPHENO:0080187",
+ "UBERON:0010913",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "UPHENO:0041226",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
+ "UPHENO:3000007",
"UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UPHENO:0053456",
+ "UBERON:0015024",
+ "UPHENO:0002403",
"UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "UBERON:0002082",
+ "HP:0100887",
+ "UPHENO:0046741",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "HP:0001626",
+ "UBERON:0015063",
+ "UPHENO:0086589",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
"UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
+ "UPHENO:0050068",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "HP:0000152",
+ "CL:0000558",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "HP:0011940",
+ "UPHENO:0049966",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0000543",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0075219",
+ "UPHENO:0005597",
+ "UPHENO:0049587",
+ "HP:0000286",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "GO:0040007",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0050106",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "HP:0000929",
+ "UBERON:0010314",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "HP:0001507",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "UBERON:0008001",
+ "HP:0006496",
+ "UPHENO:0085263",
+ "HP:0001873",
+ "HP:0011873",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0000151",
+ "UBERON:0016491",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "UBERON:0005451",
"UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
+ "UPHENO:0087518",
+ "HP:0011805",
+ "HP:0001872",
+ "UBERON:0019221",
+ "UPHENO:0001360",
+ "BFO:0000141",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "MPATH:0",
+ "UPHENO:0002905",
+ "UBERON:0001630",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UBERON:0012354",
+ "GO:0048856",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UPHENO:0088176",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001713",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0041381",
+ "UPHENO:0002733",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "HP:0000234",
+ "UPHENO:0002928",
+ "HP:0001875",
+ "HP:0000325",
+ "GO:0010629",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0046411",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0000541",
+ "UPHENO:0050620",
+ "UPHENO:0003022",
+ "UPHENO:0046426",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "HP:0007364",
+ "HP:0009380",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
"UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
+ "CL:0001035",
+ "GO:0043473",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "GO:0010605",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
+ "UPHENO:0046698",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0000991",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002581",
+ "UPHENO:0002945",
+ "UBERON:0002384",
+ "UPHENO:0076799",
+ "UBERON:0001084",
+ "UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0001303",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "UPHENO:0072345",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005090",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
"UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
"UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "GO:0032502",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0072415",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
"UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
+ "UBERON:0001008",
+ "UPHENO:0076695",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0026181",
+ "MPATH:119",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0033596",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0015277",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
"RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0033565",
+ "UBERON:0002113",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "HP:0001999",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0081511",
"UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
+ "UBERON:0010707",
+ "UPHENO:0002656",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0005025",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UPHENO:0076776",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UPHENO:0076707",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UBERON:0001712",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "HP:0001892",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
"UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
+ "UPHENO:0086866",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "UPHENO:0033590",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
+ "UBERON:0000473",
+ "UPHENO:0079872",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0000481",
+ "CL:0000766",
+ "HP:0000925",
"HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0025845",
"UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UBERON:0015228",
+ "UPHENO:0011566",
+ "UPHENO:0002646",
+ "UPHENO:0087427",
"UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
+ "UPHENO:0001072",
+ "HP:0000079",
+ "UPHENO:0025497",
+ "UBERON:0002412",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
"UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
+ "UBERON:0011823",
+ "UPHENO:0026630",
+ "UBERON:0011582",
"UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0002094",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
"UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
- "UPHENO:0086589",
- "UBERON:0000475",
- "HP:0002715",
- "UPHENO:0077399",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
"HP:0032251",
- "HP:0012733",
- "UPHENO:0063794",
- "CL:0000219",
- "UBERON:0007811",
- "UPHENO:0002976",
- "UPHENO:0080010",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0000957",
- "HP:0002664",
- "UBERON:0002091",
- "UBERON:0004120",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:1",
- "HP:0001000",
- "HP:0012372",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "HP:0000951",
- "UPHENO:0054957",
- "HP:0003220",
- "HP:0002817",
- "HP:0001872",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0004386",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
"UPHENO:0005092",
- "UPHENO:0003049",
- "UPHENO:0003020",
- "HP:0011297",
- "UPHENO:0077391",
- "HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "HP:0007565",
- "UBERON:0005451",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0069161",
- "HP:0001510",
- "UBERON:0002390",
- "BFO:0000040",
- "UPHENO:0002861",
- "UBERON:0002199",
- "UPHENO:0011531",
- "HP:0000001",
- "UBERON:0012354",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UBERON:0011216",
- "HP:0001875",
- "CL:0000458",
- "UPHENO:0004757",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0002866",
- "HP:0001873",
- "UPHENO:0080377",
- "UBERON:0010314",
- "HP:0002813",
- "GO:0043473",
- "UBERON:0002193",
- "HP:0001574",
- "HP:0000929",
- "UBERON:0004121",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UBERON:0000020",
+ "HP:0012210",
+ "UPHENO:0003227",
+ "UPHENO:0004507",
"UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "UPHENO:0080662",
- "UPHENO:0003514",
- "HP:0011355",
- "UBERON:0011249",
- "UPHENO:0076739",
- "HP:0012130",
- "HP:0000953",
- "UPHENO:0003811",
- "UPHENO:0006894",
- "UPHENO:0002548",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "HP:0001629",
"UBERON:0004088",
- "UPHENO:0002635",
- "HP:0001034",
- "UPHENO:0004494",
- "UBERON:0019231",
- "UPHENO:0002926",
- "UPHENO:0001002",
- "UBERON:0004456",
- "UPHENO:0002650",
- "UBERON:0013702",
- "UPHENO:0080209",
- "CL:0000081",
- "UPHENO:0087123",
- "UBERON:0000033",
- "UPHENO:0054970",
- "UPHENO:0005097",
- "HP:0000234",
- "HP:0008056",
- "UBERON:0001444",
- "UBERON:0000970",
- "UPHENO:0068914",
+ "HP:0011729",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "GO:0010558",
+ "HP:0020073",
+ "UPHENO:0069605",
+ "UBERON:0003037",
+ "UBERON:0002100",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0085371",
"HP:0011893",
+ "HP:0002813",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "CL:0000219",
"UPHENO:0086633",
- "UPHENO:0003001",
- "UBERON:0002104",
- "UBERON:0001463",
- "UPHENO:0080079",
- "UBERON:0004375",
+ "UPHENO:0025585",
+ "UPHENO:0008668",
+ "UPHENO:0072255",
"BFO:0000001",
- "UBERON:0010230",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0086176",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UPHENO:0069007",
+ "UBERON:0002416",
+ "CL:0000081",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0000315",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "HP:0001881",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
"UPHENO:0086016",
- "UPHENO:0075219",
- "HP:0000478",
- "HP:0000568",
- "UPHENO:0002536",
- "UBERON:0000153",
- "UPHENO:0002733",
- "UBERON:0011676",
- "UBERON:0015061",
- "UBERON:0013701",
- "UPHENO:0075195",
- "UBERON:0001456",
- "UBERON:0000955",
- "UPHENO:3000007",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "UPHENO:0011531",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "HP:0010987",
+ "UPHENO:0009163",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
"UBERON:0004381",
- "UBERON:0015212",
- "UBERON:0010758",
- "UPHENO:0087472",
- "UPHENO:0069327",
- "HP:0100887",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0087924",
- "UPHENO:0002844",
- "HP:0011875",
- "UPHENO:0002928",
- "UPHENO:0003082",
- "UPHENO:0087907",
- "GO:0005623",
- "HP:0002863",
- "UPHENO:0003025",
- "UPHENO:0069064",
- "UPHENO:0069523",
- "UPHENO:0069062",
- "HP:0011844",
- "HP:0025354",
- "UBERON:0001032",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:3000003",
- "UPHENO:0002905",
- "HP:0011842",
- "UPHENO:0069266",
+ "UPHENO:0053330",
+ "CL:0000255",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UBERON:0011216",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0008422",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0077391",
+ "UPHENO:0026108",
+ "UPHENO:0072266",
+ "UPHENO:0026486",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0007275",
+ "HP:0011276",
+ "UBERON:0000489",
+ "UPHENO:0003811",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "BFO:0000002",
+ "UPHENO:0076692",
+ "UPHENO:0086854",
+ "UBERON:0000468",
+ "UPHENO:0002548",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UBERON:0001062",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "HP:0100542",
+ "UPHENO:0041838",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "HP:0000818",
+ "HP:0001017",
+ "CL:0000988",
+ "UPHENO:0002526",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0026507",
+ "UPHENO:0004064",
+ "GO:0050896",
"UPHENO:0002731",
- "CL:0000329",
- "UPHENO:0002782",
- "UBERON:0010708",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0004708",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:5002389",
- "UPHENO:0076724",
- "UPHENO:0076723",
- "UPHENO:0004476",
- "HP:0025461",
- "UPHENO:0002600",
- "UBERON:5002544",
- "UBERON:0011582",
- "UBERON:0002544",
- "UBERON:0002416",
- "HP:0001172",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "HP:0009115",
+ "MPATH:120",
+ "UBERON:0010000",
+ "UBERON:0000467",
],
"has_phenotype_closure_label": [
- "nervous system",
+ "skin of face",
+ "head or neck skin",
+ "zone of organ",
+ "ocular adnexa phenotype",
+ "skin of head morphology phenotype",
+ "increased size of the material anatomical entity",
+ "increased size of the zone of skin",
+ "eyelid phenotype",
+ "Abnormality of the ocular adnexa",
+ "increased size of the zone of organ",
+ "zone of skin morphology phenotype",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "Abnormal eyelid morphology",
+ "increased length of the skin of head",
+ "ocular adnexa",
+ "increased length of the anatomical entity",
+ "response to stress phenotype",
+ "zone of skin",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "increased size of the multicellular anatomical structure",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "behavior",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
+ "Hypopigmented macule",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "tendon",
+ "regular connective tissue",
+ "decreased length of dense regular connective tissue",
+ "articulation",
+ "decreased size of the connective tissue",
+ "dense connective tissue phenotype",
+ "Abnormal skeletal muscle morphology",
+ "muscle organ",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "Abnormal musculoskeletal physiology",
+ "response to stimulus",
+ "muscle structure",
+ "muscle organ morphology phenotype",
+ "Joint contracture",
+ "decreased size of the tissue",
+ "decreased length of tissue",
+ "skeletal joint",
+ "Abnormal joint physiology",
+ "tissue phenotype",
+ "dense regular connective tissue phenotype",
+ "Abnormality of joint mobility",
+ "nucleobase-containing compound metabolic process phenotype",
+ "Abnormality of connective tissue",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "eyelid morphology phenotype",
+ "Ectopic kidney",
+ "increased length of the multicellular anatomical structure",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "interventricular septum",
+ "incomplete closing of the interventricular septum",
+ "cardiac ventricle phenotype",
+ "opening of the anatomical entity",
+ "Abnormal ventricular septum morphology",
+ "incomplete closing of the anatomical entity",
+ "thoracic segment of trunk",
+ "cardiac ventricle morphology phenotype",
+ "organ part",
+ "Ventricular septal defect",
+ "material anatomical entity morphology in the heart phenotype",
+ "Abnormal cardiovascular system morphology",
+ "cardiac chamber",
+ "heart",
+ "heart morphology phenotype",
+ "cardiac chamber phenotype",
+ "anatomical structure morphology in the heart phenotype",
+ "increased length of the skin of face",
+ "thoracic cavity element",
+ "Abnormal cardiac ventricle morphology",
+ "circulatory organ",
+ "viscus",
+ "cardiovascular system morphology phenotype",
+ "thoracic cavity element phenotype",
+ "incomplete closing of the material anatomical entity",
+ "interventricular septum morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "Irregular hyperpigmentation",
+ "Anemia",
+ "Hyperpigmentation of the skin",
+ "increased length of the anatomical structure",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormality of skin pigmentation",
+ "increased qualitatively biological_process",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "vasculature",
+ "Abnormality of the cardiovascular system",
+ "circulatory system",
+ "circulatory disorder",
+ "Abnormal bleeding",
+ "hemorrhage and non-specified extravasation",
+ "Subcutaneous hemorrhage",
+ "Vascular skin abnormality",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "vascular system",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "Generalized abnormality of skin",
+ "circulatory system phenotype",
+ "cardiovascular system phenotype",
+ "Bone marrow hypocellularity",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "biological_process phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "dense regular connective tissue",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "skin of eyelid",
+ "manual digitopodium bone",
+ "phalanx",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "multi organ part structure phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
"Abnormality of the nervous system",
- "brain morphology phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "forebrain",
+ "organ part phenotype",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "tendon phenotype",
+ "Abnormal cardiac septum morphology",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "multi organ part structure",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "Epicanthus",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Flexion contracture",
+ "lateral structure phenotype",
+ "Abnormal vertebral morphology",
+ "vertebral element",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "triangular anatomical entity",
+ "location of anatomical entity phenotype",
"Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "vertebra morphology phenotype",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "bony vertebral centrum",
+ "Anterior wedging of T12",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "cuneate anatomical entity",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "shape of continuant phenotype",
+ "multicellular organism development",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "pathological phenotype observation",
+ "Abnormality of the eye",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "irregular bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "anatomical structure physiology phenotype",
+ "orbital region phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "decreased embryo development",
+ "Intrauterine growth retardation",
+ "decreased multicellular organismal process",
+ "process",
+ "incomplete closing of the anatomical structure",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "hematopoietic system",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "developmental process rate phenotype",
+ "growth phenotype",
+ "increased size of the anatomical structure",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased qualitatively biological_process",
+ "vertebra",
+ "biological_process rate phenotype",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "decreased length of connective tissue",
+ "bony vertebral centrum morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "absent organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "decreased length of organism subdivision",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "Growth delay",
+ "segment of manus",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "decreased length of tendon",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "primary circulatory organ phenotype",
+ "decreased anatomical structure development",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "increased length of the ectoderm-derived structure",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased number of platelet",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased length of manual digit 1",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "craniofacial/craniocervical phenotype",
+ "Triangular face",
+ "absent kidney",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "craniocervical region phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "Abnormal conjugate eye movement",
+ "Abnormal facial shape",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "vertebral element phenotype",
+ "tissue",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "increased length of the head or neck skin",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
"skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "regular connective tissue phenotype",
+ "Abnormal reproductive system morphology",
+ "Abnormal cellular phenotype",
"Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
- "metabolic process",
- "homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "number of platelet phenotype",
+ "developmental process phenotype",
+ "cardiovascular system",
+ "male reproductive system",
+ "granulocyte morphology phenotype",
+ "absent lateral structure",
+ "localised gonad",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "Abnormal external genitalia",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "Abnormal granulocyte morphology",
+ "limb segment",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "vasculature phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "regional part of nervous system",
+ "vertebral column morphology phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
+ "musculature of body",
+ "musculature of body phenotype",
+ "shape of vertebra phenotype",
"limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
+ "bone of free limb or fin phenotype",
+ "anatomical structure development phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "cardiac septum morphology phenotype",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "increased length of the epicanthal fold",
+ "anatomical structure development",
+ "dense connective tissue",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "primary circulatory organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "viscus phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "Abnormality of the male genitalia",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "vertebral centrum element",
+ "limb segment phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
"limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormal heart morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "skin of head",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
"paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
+ "irregular bone phenotype",
+ "increased length of the zone of skin",
+ "absent limb long bone in the forelimb",
+ "cardiac septum phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
"Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "musculoskeletal system physiology phenotype",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "absent anatomical entity in the skeletal system",
+ "embryo development",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "skeleton phenotype",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "thoracic segment organ",
+ "decreased biological_process",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
"subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "connective tissue phenotype",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
"endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
- "Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
- "ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
- "musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
"limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
"number of cell phenotype",
- "Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
- "process",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "muscle structure phenotype",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "root",
+ "decreased qualitatively developmental process",
+ "Abnormal tendon morphology",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "epicanthal fold",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
"serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
+ "incomplete closing of the septum",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "superficial fascia",
+ "material anatomical entity",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
"Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
- "sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
- "musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "embryo development rate phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "muscle organ phenotype",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
+ "cellular organisms",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "compound organ",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "upper eyelid",
"subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
- "Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "erythrocyte",
+ "zone of organ phenotype",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "Hearing abnormality",
+ "Abnormal form of the vertebral bodies",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
- "Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
+ "skull",
+ "decreased length of regular connective tissue",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "increased length of the material anatomical entity",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "excretory system",
+ "renal system morphology phenotype",
"eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "decreased length of dense connective tissue",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
"upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "connective tissue",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "absent anatomical entity",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "immune system",
+ "cuneate vertebra",
+ "Abnormal skin morphology",
+ "decreased number of leukocyte",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "entity",
+ "Abnormal ocular adnexa morphology",
+ "tendon morphology phenotype",
+ "arm bone",
"anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
- "material anatomical entity",
- "subdivision of skeletal system",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "cell",
+ "paired limb/fin skeleton phenotype",
+ "decreased number of anatomical structure",
+ "oxygen accumulating cell",
+ "bone of appendage girdle complex phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "external male genitalia",
"number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
+ "mesoderm-derived structure",
+ "Vertebral wedging",
"disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
- "decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
- "manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "renal system",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "incomplete closing of the cardiac septum",
+ "Abnormal granulocyte count",
+ "Abnormality of the musculature",
+ "nucleate cell",
+ "decreased qualitatively multicellular organismal process",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "decreased multicellular organism development",
+ "ecchymosis",
+ "compound organ phenotype",
+ "regulation of biological process",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "motile cell",
+ "regulation of gene expression",
+ "pigmentation",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
- "size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
- "appendicular skeletal system",
+ "decreased qualitatively system process",
+ "decreased qualitatively embryo development",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "embryo development phenotype",
+ "Abnormality of the genitourinary system",
+ "cardiac septum",
"skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
- "integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "brain phenotype",
+ "circulatory organ phenotype",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "shape anatomical entity",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin segment",
+ "sensory system phenotype",
"ectoderm-derived structure phenotype",
- "skeleton",
+ "abdominal segment of trunk",
+ "nervous system physiology phenotype",
+ "Cryptorchidism",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "septum phenotype",
+ "Abnormal forearm morphology",
+ "anatomical system phenotype",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "cardiac ventricle",
+ "Abnormality of the integument",
+ "regional part of brain phenotype",
+ "organ",
+ "limb phenotype",
"organ phenotype",
- "Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "2-D shape anatomical entity",
+ "integumental system",
+ "Abnormal neutrophil count",
+ "anatomical entity",
+ "decreased number of anatomical entity",
+ "manual digit 1 plus metapodial segment",
"organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
- "entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
+ "neutrophil phenotype",
+ "absent abdominal segment element in the renal system",
+ "regulation of macromolecule metabolic process phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "abdomen element phenotype",
+ "integumental system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "appendicular skeletal system",
+ "Renal hypoplasia/aplasia",
"head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype",
+ "Abnormal male external genitalia morphology",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "continuant",
+ "Abnormality of metabolism/homeostasis",
],
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0013566",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group L",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.",
"provided_by": "phenio_nodes",
- "xref": ["DOID:0060978", "MEDGEN:1621245", "OMIM:617784", "UMLS:C4521564"],
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "xref": ["DOID:0111082", "GARD:15754", "MEDGEN:854018", "OMIM:614083", "UMLS:C3469528"],
+ "synonym": [
+ "FANCL",
+ "FANCL Fanconi anaemia",
+ "FANCL Fanconi anemia",
+ "Fanconi Anemia, complementation Group 50",
+ "Fanconi Anemia, complementation group type 50",
+ "Fanconi anaemia caused by mutation in FANCL",
+ "Fanconi anaemia complementation group type L",
+ "Fanconi anemia caused by mutation in FANCL",
+ "Fanconi anemia complementation group L",
+ "Fanconi anemia complementation group type L",
+ "Fanconi anemia, complementation group L",
+ ],
"namespace": "MONDO",
"has_phenotype": [
- "HP:0002247",
- "HP:0002984",
- "HP:0002863",
+ "HP:0001776",
+ "HP:0000369",
+ "HP:0000347",
+ "HP:0003974",
+ "HP:0000465",
+ "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0002119",
"HP:0009777",
- "HP:0001748",
- "HP:0000824",
- "HP:0002518",
- "HP:0002308",
- "HP:0031689",
- "HP:0011800",
+ "HP:0009892",
+ "HP:0004590",
+ "HP:0000151",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0002032",
+ "HP:0011968",
+ "HP:0001321",
+ "HP:0000175",
+ "HP:0000054",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0000437",
+ "HP:0000316",
+ "HP:0040012",
+ "HP:0008551",
+ "HP:0001903",
+ "HP:0000957",
+ "HP:0000122",
+ "HP:0002023",
+ "HP:0002188",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
"HP:0000089",
- "HP:0000252",
- "HP:0410049",
],
"has_phenotype_label": [
- "Duodenal atresia",
- "Hypoplasia of the radius",
- "Myelodysplasia",
+ "Bilateral talipes equinovarus",
+ "Low-set ears",
+ "Micrognathia",
+ "Absent radius",
+ "Webbed neck",
+ "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Ventriculomegaly",
"Absent thumb",
- "Polysplenia",
- "Decreased response to growth hormone stimulation test",
- "Abnormal periventricular white matter morphology",
- "Chiari malformation",
- "Megakaryocyte dysplasia",
- "Midface retrusion",
+ "Anotia",
+ "Hypoplastic sacrum",
+ "Aplasia of the uterus",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Esophageal atresia",
+ "Feeding difficulties",
+ "Cerebellar hypoplasia",
+ "Cleft palate",
+ "Micropenis",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Depressed nasal tip",
+ "Hypertelorism",
+ "Chromosome breakage",
+ "Microtia",
+ "Anemia",
+ "Cafe-au-lait spot",
+ "Unilateral renal agenesis",
+ "Anal atresia",
+ "Delayed CNS myelination",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
"Renal hypoplasia",
- "Microcephaly",
- "Abnormal radial ray morphology",
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 36,
"has_phenotype_closure": [
- "HP:0410049",
- "UBERON:0003129",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "HP:0009121",
- "UBERON:0002090",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011143",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
+ "HP:0030669",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
+ "GO:0007272",
+ "UPHENO:0000553",
+ "UPHENO:0050121",
+ "GO:0022010",
+ "UPHENO:0000555",
+ "HP:0002188",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
+ "UPHENO:0050379",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
+ "HP:0008678",
+ "UBERON:0001008",
+ "UPHENO:0009011",
+ "UPHENO:0011559",
+ "UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
+ "UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
+ "HP:0000077",
+ "UPHENO:0002803",
"UPHENO:3000004",
- "UPHENO:0087427",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "UPHENO:0075902",
+ "UPHENO:0002909",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
+ "HP:0000953",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
+ "UPHENO:3000007",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0001570",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
"UPHENO:0002754",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0087907",
- "UPHENO:0002928",
- "UPHENO:0086589",
- "UPHENO:0081786",
- "UPHENO:0087472",
- "HP:0011800",
- "UPHENO:3000000",
- "HP:0000271",
- "HP:0000234",
- "UBERON:0000033",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
+ "UBERON:0000167",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
+ "UBERON:0001716",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
"UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
"UBERON:0000479",
- "UPHENO:0088145",
- "CL:0000556",
- "CL:0002092",
- "HP:0012143",
- "CL:0001035",
- "CL:0000988",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
+ "UPHENO:0087349",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
"HP:0025354",
- "HP:0002308",
- "UPHENO:0071315",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0071335",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
+ "UBERON:0000474",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
+ "UPHENO:0002839",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
+ "UBERON:0003828",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
+ "UPHENO:0080196",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
+ "HP:0000001",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
+ "UPHENO:0026984",
+ "UPHENO:0002715",
+ "UBERON:0004247",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
"UPHENO:0075948",
- "HP:0001317",
- "UBERON:0004733",
- "HP:0002438",
- "UPHENO:0003459",
- "UPHENO:0071325",
- "UPHENO:0081601",
- "UPHENO:0071317",
- "HP:0011282",
- "UBERON:0002028",
- "UPHENO:0002765",
- "UBERON:0001869",
- "UPHENO:0003030",
- "UPHENO:0074036",
- "UBERON:0019261",
- "UPHENO:0002834",
- "HP:0007367",
- "UPHENO:0073898",
- "HP:0002180",
- "HP:0002352",
- "UPHENO:0074038",
- "UPHENO:0081562",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0003001",
- "UPHENO:0089366",
- "UPHENO:0073911",
- "HP:0002518",
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0000007",
- "GO:0009914",
- "GO:0046903",
- "GO:0071705",
- "UBERON:0005162",
- "UPHENO:0003055",
- "UPHENO:0053274",
- "UPHENO:0082875",
- "NCBITaxon:2759",
- "UBERON:0000179",
- "GO:0032940",
- "GO:0007267",
- "UPHENO:0083689",
- "UPHENO:0049647",
- "UPHENO:0002523",
- "UPHENO:0053121",
- "UBERON:0005156",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:0002642",
- "UPHENO:0002529",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0052554",
- "HP:0010935",
- "UBERON:0002316",
- "UPHENO:0075772",
- "UPHENO:0081628",
- "UPHENO:0053234",
- "UPHENO:0050064",
- "UPHENO:0005571",
- "UPHENO:0073937",
- "UPHENO:0005470",
- "UPHENO:0052678",
- "UPHENO:0005590",
- "UPHENO:0005534",
- "UPHENO:0083952",
- "UPHENO:0053013",
- "UPHENO:0077890",
- "UPHENO:0052714",
- "UPHENO:0049724",
- "UPHENO:0074037",
- "UBERON:0002368",
- "UPHENO:0050014",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "HP:0032367",
- "UPHENO:0052226",
- "HP:0000089",
- "UPHENO:0049871",
- "UPHENO:0002685",
- "GO:0002790",
- "UBERON:0003296",
- "UBERON:0002616",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
"UPHENO:0050065",
- "UPHENO:0005602",
- "UPHENO:0050581",
- "UPHENO:0002621",
- "UPHENO:0004618",
- "UPHENO:0052518",
- "UBERON:0001894",
- "UPHENO:0052867",
- "UBERON:0000481",
- "HP:0010662",
- "UPHENO:0049829",
- "UBERON:0000949",
- "GO:0065008",
- "UPHENO:0005506",
- "UPHENO:0005570",
- "UPHENO:0080588",
- "UBERON:0010314",
- "UPHENO:0005458",
- "UPHENO:0005552",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0100547",
- "UBERON:0002530",
- "UPHENO:0087376",
- "UPHENO:0052354",
- "GO:0015833",
- "UPHENO:0005441",
- "GO:0065007",
- "GO:0009987",
- "UPHENO:0052715",
- "UPHENO:0077889",
- "HP:0000824",
- "UBERON:0000454",
- "UPHENO:0052245",
- "UPHENO:0076957",
- "UPHENO:0078743",
- "HP:0031073",
- "HP:0000830",
- "UPHENO:0005504",
- "UBERON:0000990",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "HP:0002977",
- "UPHENO:0002553",
- "UPHENO:0003004",
- "UPHENO:0088065",
- "NCBITaxon:33154",
- "GO:0030072",
- "UBERON:0003937",
- "UBERON:0004089",
- "UBERON:0003133",
- "HP:0010993",
- "UBERON:0001890",
- "UBERON:0004092",
- "GO:0050789",
- "GO:0051234",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
- "UPHENO:0003065",
- "UPHENO:0002637",
- "UBERON:0002495",
- "UPHENO:0073978",
- "HP:0040075",
- "HP:0002984",
- "UPHENO:0002559",
+ "HP:0002795",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
+ "HP:0025668",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
"CL:0000000",
- "UPHENO:0074310",
- "UPHENO:0003227",
- "UPHENO:0002859",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
"UPHENO:0008548",
- "HP:0011314",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0005573",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0003410",
+ "HP:5200263",
+ "HP:0000202",
"UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011024",
- "UPHENO:0069327",
- "HP:0045060",
- "UBERON:0001434",
- "HP:0000078",
- "UBERON:0015212",
- "UBERON:0004381",
- "UBERON:0005173",
- "UBERON:0000383",
- "UPHENO:0012308",
- "UPHENO:0075195",
- "UPHENO:0002538",
- "UBERON:0010740",
- "UPHENO:0071339",
- "UPHENO:0002596",
- "UPHENO:0068898",
- "UPHENO:0052180",
- "UPHENO:0001360",
- "CHEBI:24431",
- "UBERON:0019231",
- "UPHENO:0052937",
- "UPHENO:0046538",
- "UPHENO:0087339",
- "UPHENO:0003936",
- "HP:0009826",
- "UPHENO:0074054",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
"GO:0008150",
- "UBERON:0001895",
- "UPHENO:0049890",
- "UPHENO:0056077",
- "UBERON:0010538",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0002678",
- "UPHENO:0046552",
- "UPHENO:0074237",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
"HP:0025031",
- "UPHENO:0076727",
- "UPHENO:0081091",
- "UPHENO:0003095",
- "UBERON:0010323",
- "UPHENO:0011609",
- "UPHENO:0005426",
- "UPHENO:0081435",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UPHENO:0046540",
- "UBERON:0008962",
- "UPHENO:0009209",
- "UPHENO:0053355",
- "UBERON:0015001",
+ "HP:5200241",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
+ "UPHENO:0005106",
+ "HP:0000130",
+ "UPHENO:0081511",
+ "UPHENO:0002755",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
+ "UBERON:0004175",
"UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UPHENO:0002267",
- "UPHENO:0049894",
- "UBERON:0002386",
- "UPHENO:0014322",
- "UPHENO:0005611",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "HP:0000864",
- "UBERON:0011249",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0004122",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
"UPHENO:0002976",
- "HP:0009601",
- "UPHENO:0074028",
- "UPHENO:0002594",
- "HP:0009815",
- "HP:0003026",
- "UPHENO:0069163",
- "UBERON:0000025",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0046455",
- "UPHENO:0004523",
- "HP:0040195",
- "GO:0046879",
- "UBERON:0004710",
- "UPHENO:0002896",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0011216",
- "UPHENO:0046484",
- "UPHENO:0077887",
- "UPHENO:0002861",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
"UBERON:0008785",
- "UPHENO:0076718",
- "UPHENO:0081227",
- "UPHENO:0049927",
- "UBERON:0011584",
- "GO:0010817",
- "UPHENO:0068912",
- "UBERON:0015061",
- "UPHENO:0087516",
- "UBERON:5002544",
- "UPHENO:0046479",
- "UPHENO:0002650",
- "UPHENO:0002531",
- "UPHENO:0063629",
- "UPHENO:0002808",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
"UPHENO:0076779",
- "UPHENO:0087940",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0063569",
- "UPHENO:0046460",
- "HP:0009115",
- "UBERON:0000465",
- "UBERON:0002204",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "UPHENO:0025195",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
"UPHENO:0027017",
- "UPHENO:0087531",
- "HP:0040068",
- "UPHENO:0002659",
- "UPHENO:0005230",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0052160",
- "UPHENO:0063615",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0003812",
- "UPHENO:0074311",
- "UPHENO:0056047",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "GO:0030252",
- "UBERON:0001555",
- "UPHENO:0000543",
- "UPHENO:0002719",
- "UBERON:0003460",
- "UPHENO:0005652",
- "HP:0040064",
- "HP:0002119",
- "UPHENO:0004518",
- "HP:0001748",
- "UPHENO:0075944",
- "UPHENO:0002994",
- "UPHENO:0074051",
- "UPHENO:0076735",
- "UBERON:0002113",
- "UPHENO:0086735",
- "UPHENO:0063639",
- "UBERON:0003947",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
- "UPHENO:0011559",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0088047",
- "UBERON:0004732",
- "HP:0002817",
- "HP:0002589",
- "UPHENO:0009146",
- "UPHENO:0014333",
- "UBERON:0003103",
- "UPHENO:0003952",
+ "NCBITaxon:2759",
+ "UBERON:0004756",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
"UBERON:0005409",
- "UBERON:0002544",
- "UPHENO:0086633",
- "UPHENO:0074229",
- "UPHENO:0069194",
- "HP:0000929",
- "UPHENO:0071344",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0011670",
- "UBERON:0005881",
- "HP:0001626",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
+ "UPHENO:0011548",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0086956",
- "UBERON:0002114",
- "UPHENO:0002988",
- "UPHENO:0004802",
- "UBERON:0010708",
- "HP:0002247",
- "UPHENO:0025587",
- "HP:0008678",
- "UBERON:0015021",
- "UBERON:0005057",
- "UBERON:0000467",
- "UBERON:0001893",
- "UPHENO:0068839",
- "UPHENO:0011563",
- "UBERON:0001009",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UPHENO:0076703",
- "UBERON:0013765",
- "UPHENO:0002530",
- "UBERON:0000075",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0003087",
- "UBERON:0001007",
- "UBERON:0002108",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0011747",
- "UPHENO:0069030",
- "UPHENO:0002750",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "HP:0002246",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "HP:0002813",
"BFO:0000002",
"UPHENO:0063563",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0049966",
- "HP:0005922",
- "UPHENO:0079872",
- "UBERON:0002428",
- "UBERON:0002100",
- "UBERON:0001015",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
+ "UPHENO:0063603",
"UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
"UPHENO:0003460",
- "BFO:0000001",
- "GO:0040007",
- "HP:0000818",
- "UPHENO:0063575",
- "UBERON:0010707",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "UPHENO:0004507",
- "UPHENO:0005542",
- "UPHENO:0087349",
- "UPHENO:0002803",
- "UBERON:0001474",
- "UBERON:0010000",
- "HP:0009821",
- "HP:0033127",
- "UBERON:0000063",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "UPHENO:0002833",
- "GO:0032502",
- "HP:0000924",
- "UPHENO:0074228",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0001001",
- "UPHENO:0049733",
- "UPHENO:0002526",
- "UPHENO:0046505",
- "UPHENO:0001440",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
"BFO:0000040",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UBERON:0002193",
- "HP:0011283",
- "UPHENO:0068838",
- "UPHENO:0081594",
- "UBERON:0000062",
- "UPHENO:9002003",
- "UPHENO:0014302",
- "GO:0007154",
- "UBERON:0004111",
- "UPHENO:0074330",
- "UPHENO:0005597",
- "UPHENO:0004476",
- "UBERON:0011215",
- "UBERON:0011299",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UBERON:0010741",
- "UPHENO:0076783",
- "UBERON:0011582",
- "UPHENO:0052178",
- "HP:0002242",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "HP:0000118",
- "UBERON:0006314",
- "UPHENO:0046445",
- "UPHENO:0084771",
- "UPHENO:0046483",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0046392",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0000955",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "GO:0023061",
- "UPHENO:0074335",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0069047",
- "UBERON:0002437",
- "UPHENO:0075175",
- "HP:0000152",
"UPHENO:0002785",
- "UPHENO:0003514",
+ "UBERON:0007811",
+ "HP:0045060",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
"HP:0006496",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0086932",
- "UBERON:0015204",
- "UBERON:0000061",
- "HP:0005561",
+ "UPHENO:0002967",
+ "HP:0100886",
+ "UPHENO:0002964",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
+ "UPHENO:0080089",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
"UBERON:0000026",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0011931",
- "UPHENO:0069292",
- "UBERON:0003466",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0000477",
- "UBERON:0003544",
- "UPHENO:0012274",
- "UBERON:0005281",
- "UPHENO:0026181",
- "UPHENO:0002593",
- "UPHENO:0076790",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0031071",
- "HP:0000001",
- "UPHENO:0076720",
- "UPHENO:0080220",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0002841",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0005434",
- "UPHENO:0046403",
- "UBERON:0012475",
- "HP:0011842",
- "PATO:0000001",
- "UPHENO:0083951",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
"UPHENO:0079876",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069064",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0002964",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0011572",
- "HP:0002863",
- "UPHENO:0069062",
- "HP:0002973",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0068932",
- "UPHENO:0002764",
- "HP:0003117",
- "UBERON:0000160",
- "UPHENO:0011536",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
"UPHENO:0002586",
- "UPHENO:0001340",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UBERON:0000463",
- "HP:0004377",
- "HP:0011793",
- "UPHENO:0002725",
- "UPHENO:0026010",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0033612",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
+ "UPHENO:0014351",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
+ "UBERON:0006983",
+ "UBERON:0003463",
"UBERON:0011137",
- "UBERON:0004535",
- "UBERON:0002390",
- "HP:0001510",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0005120",
- "HP:0001871",
- "UPHENO:0014335",
- "UPHENO:0002905",
- "UBERON:0002196",
- "UPHENO:0080325",
- "HP:0002664",
- "UPHENO:0063565",
- "HP:0012503",
- "HP:0001507",
- "UPHENO:0000541",
- "BFO:0000015",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0002049",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
+ "UPHENO:0072200",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
"UBERON:0009569",
- "UPHENO:0049874",
- "BFO:0000003",
- "UPHENO:0049691",
- "HP:0009799",
- "UPHENO:0071310",
- "GO:0051179",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
"UPHENO:0080377",
- "GO:0007275",
- "UPHENO:0014285",
- "UPHENO:0002792",
- "UBERON:0012139",
- "GO:0006810",
- "UPHENO:0025507",
- "UPHENO:0081466",
- "UPHENO:0080393",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "UPHENO:0002873",
- "UPHENO:0080382",
- "UPHENO:0053456",
- "UBERON:0005944",
- "GO:0048856",
- "UPHENO:0052694",
- "HP:0001511",
- "UPHENO:0068971",
- "UPHENO:0005647",
- "UBERON:0004921",
- "UPHENO:0053330",
- "HP:0011100",
- "UPHENO:0005433",
- "UPHENO:0050068",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
"UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UPHENO:0003116",
- "UPHENO:0005642",
- "UPHENO:0050106",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0005540",
- "UPHENO:0081598",
- "UBERON:0004086",
- "HP:0006501",
- "UPHENO:0050034",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
+ "HP:0001776",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
"HP:0002118",
- "HP:0012639",
- "UPHENO:0076791",
- "UPHENO:0001134",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0004521",
- "HP:0000240",
- "UBERON:0005358",
- "HP:0031072",
- "HP:0002011",
- "HP:0009824",
- "UPHENO:0004956",
- "GO:0009790",
- "UPHENO:0004788",
- "UPHENO:0076805",
- "UPHENO:0073886",
- "HP:0000707",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UBERON:0005282",
- "UPHENO:0001072",
- "UPHENO:0081210",
- "UPHENO:0002548",
- "UPHENO:0002987",
- "HP:0031689",
- "UPHENO:0001025",
- "HP:0007364",
- "HP:0012443",
- "UBERON:0004177",
- "UPHENO:0001147",
- "UPHENO:0005029",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0074245",
- "UPHENO:0001355",
- "UBERON:0004923",
- "UPHENO:0056134",
- "UPHENO:0011498",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UPHENO:0086700",
- "UBERON:0002101",
- "HP:0002012",
- "UBERON:0006048",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:0049813",
- "HP:0006265",
- "UPHENO:0014291",
- "UPHENO:0084761",
- "UBERON:0012140",
- "UPHENO:0002708",
- "GO:0042886",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "HP:0005773",
- "UPHENO:0002733",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0003082",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
"UPHENO:0008668",
- "HP:0000079",
- "UPHENO:0081451",
- "CL:0000763",
- "UPHENO:0001004",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UBERON:0006558",
- "UPHENO:0075998",
- "UPHENO:0026146",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
"UBERON:5002389",
- "GO:0032501",
- "UBERON:0007798",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UBERON:0034925",
- "UPHENO:0002819",
- "UPHENO:0080114",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
"UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005427",
- "UPHENO:0026640",
"UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002037",
- "UBERON:0002389",
- "UPHENO:0025585",
- "UPHENO:0003093",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
"UPHENO:0026643",
- "HP:0011297",
- "UPHENO:0014347",
- "UPHENO:0014325",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0014351",
- "UPHENO:0002661",
- "UBERON:0002465",
- "UBERON:0002417",
- "UPHENO:0014319",
- "UPHENO:0003088",
- "HP:0001743",
- "UBERON:0002106",
- "UPHENO:0087267",
- "HP:0025408",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UPHENO:0014240",
- "UBERON:0000064",
- "UPHENO:0075774",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0087123",
- "UPHENO:0076702",
- "HP:0100763",
- "UPHENO:0056059",
- "UPHENO:0002576",
- "GO:0023052",
- "HP:0001172",
- "UPHENO:0002969",
- "HP:0002715",
- "UPHENO:0011533",
- "UBERON:0013701",
- "UPHENO:0086172",
- "UPHENO:0002874",
- "UBERON:0034923",
- "UPHENO:0002948",
- "UPHENO:0014332",
- "UPHENO:0014287",
- "HP:0025033",
- "UPHENO:0011558",
- "HP:0002597",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0017672",
- "UPHENO:0004004",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0014244",
- "HP:0011844",
- "UPHENO:0075995",
- "UPHENO:0050121",
- "HP:0002060",
- "UPHENO:0003016",
- "UPHENO:0076812",
- "UPHENO:0005477",
- "GO:0140352",
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708",
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
"kidney hypoplasia",
- "renal system morphology phenotype",
- "kidney",
- "kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
+ "decreased length of neck",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
+ "decreased size of the anatomical entity",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
+ "ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
+ "central nervous system myelination phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
+ "nervous system development",
+ "myelination",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
+ "oligodendrocyte differentiation",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
+ "anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "absent multicellular anatomical structure in the renal system",
+ "absent abdomen element in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
+ "absent material anatomical entity in the renal system",
+ "absent cavitated compound organ",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
+ "absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
+ "abdomen element phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "skin of body",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
+ "Abnormal erythrocyte morphology",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
+ "increased size of the non-material anatomical boundary",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
+ "flat anatomical entity",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
+ "anatomical wall",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
+ "secondary palate",
+ "oral cavity",
+ "orifice",
+ "Abnormality of the face",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
- "cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
+ "midface phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
"organ subunit",
- "malformed anatomical entity",
- "Chiari malformation",
- "cerebellum phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
"Abnormal hindbrain morphology",
- "formed multi-tissue structure",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
+ "decreased anatomical structure development",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
"segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
+ "homeostatic process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the digestive system",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
+ "anatomical entity atresia",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
+ "tube",
+ "thoracic cavity element",
"genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
+ "Delayed myelination",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
"reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
- "material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
"cellular process",
- "Abnormal pituitary gland morphology",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
+ "skeletal element phenotype",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
"upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
- "reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
- "hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
- "multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
"craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
+ "absent trunk region element in the multicellular organism",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
+ "bone of jaw",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
+ "subdivision of trunk",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "dermal skeletal element phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
+ "negative regulation of cellular process",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
+ "Abnormal neck morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
+ "anatomical entity morphology in the manus phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "absent digit",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
+ "neurogenesis",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
+ "system process",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
+ "Abnormal tracheal morphology",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
+ "cognitive behavior",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
+ "closing of the material anatomical entity",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "pectoral appendage",
"trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
"bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
- "process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
- "long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
"absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
- "decreased size of the mesoderm-derived structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
"zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
- "absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
- "decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
- "head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
- "skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "Abnormal small intestine morphology",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
"aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
- "decreased length of anatomical entity",
- "alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
- "forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
- "intestine morphology phenotype",
- "skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
- "material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
- "skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
"digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
- "forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
- "musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
- "continuant",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
+ "increased size of the anatomical entity",
"anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "delayed axon ensheathment",
+ "anatomical line",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
"forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
"closing of the anatomical structure",
- "limb phenotype",
- "nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
- "skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
+ "multi-limb segment region",
"multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
+ "external male genitalia hypoplasia",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
+ "Absent radius",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
+ "forelimb long bone",
+ "radius bone",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "pigmentation",
"limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
- "pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
- "subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
+ "pectoral appendage phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
"segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
- "Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
"biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
- "aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
"Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
- "decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
"digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
"postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
- "endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
- "decreased size of the limb endochondral element",
- "anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
"musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
"skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
+ "Abnormal axial skeleton morphology",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
"aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
"aplasia or hypoplasia of skeleton",
- "decreased cellular process",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "alimentary part of gastrointestinal system phenotype",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
"subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
"subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
- "delayed biological_process",
- "hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
- "growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "increased length of the anatomical line between pupils",
+ "Craniofacial cleft",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
- "ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
+ "primary subdivision of cranial skeletal system",
+ "absent endochondral bone",
+ "limb long bone",
+ "dermal skeleton",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
"absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
"forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
- "peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
"head",
- "digit",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
"manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
+ "organism subdivision",
+ "organ subunit phenotype",
+ "Abnormal brain morphology",
"autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
- "non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
- "Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
"anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion",
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
+ "intramembranous bone",
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype",
],
},
],
diff --git a/backend/tests/integration/test_solr_association.py b/backend/tests/integration/test_solr_association.py
index fd74a91c1..3c877d622 100644
--- a/backend/tests/integration/test_solr_association.py
+++ b/backend/tests/integration/test_solr_association.py
@@ -68,10 +68,17 @@ def test_entity():
assert response
assert response.total > 50
for association in response.items:
- if association.subject_closure is None or len(association.subject_closure) == 0:
+
+ if (
+ association.subject_closure is None or len(association.subject_closure) == 0
+ ) and association.disease_context_qualifier is None:
assert "MONDO:0007947" in association.object_closure
- elif association.object_closure is None or len(association.object_closure) == 0:
+ elif (
+ association.object_closure is None or len(association.object_closure) == 0
+ ) and association.disease_context_qualifier is None:
assert "MONDO:0007947" in association.subject_closure
+ elif association.disease_context_qualifier is not None:
+ assert "MONDO:0007947" in association.disease_context_qualifier_closure
else:
assert "MONDO:0007947" in association.subject_closure or "MONDO:0007947" in association.object_closure
diff --git a/backend/tests/unit/test_solr_queries.py b/backend/tests/unit/test_solr_queries.py
index da9c18291..7c42055aa 100644
--- a/backend/tests/unit/test_solr_queries.py
+++ b/backend/tests/unit/test_solr_queries.py
@@ -83,7 +83,7 @@ def test_build_association_multiple_entites():
entity_filter = [fq for fq in query.filter_queries if fq.startswith("subject:")][0]
assert (
entity_filter
- == 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR subject:"HP:0000006" OR subject_closure:"HP:0000006" OR object:"HP:0000006" OR object_closure:"HP:0000006"'
+ == 'subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121" OR object:"MONDO:0020121" OR object_closure:"MONDO:0020121" OR disease_context_qualifier:"MONDO:0020121" OR disease_context_qualifier_closure:"MONDO:0020121" OR subject:"HP:0000006" OR subject_closure:"HP:0000006" OR object:"HP:0000006" OR object_closure:"HP:0000006" OR disease_context_qualifier:"HP:0000006" OR disease_context_qualifier_closure:"HP:0000006"'
)
@@ -101,6 +101,7 @@ def test_build_association_multiple_objects():
query = build_association_query(object=["HP:0000006", "HP:0000007"])
assert len(query.filter_queries) > 0, "filter_queries is empty"
object_filter = [fq for fq in query.filter_queries if fq.startswith("object:")][0]
+ print(object_filter)
assert (
object_filter
== 'object:"HP:0000006" OR object_closure:"HP:0000006" OR object:"HP:0000007" OR object_closure:"HP:0000007"'
diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json
index c89f298ca..5cca05d0d 100644
--- a/frontend/fixtures/association-counts.json
+++ b/frontend/fixtures/association-counts.json
@@ -2,9 +2,14 @@
"items": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4077,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
+ {
+ "label": "Gene to Phenotype",
+ "count": 6350,
+ "category": "biolink:GeneToPhenotypicFeatureAssociation"
+ },
{
"label": "Causal Gene",
"count": 125,
@@ -22,8 +27,13 @@
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 239,
"category": "biolink:GenotypeToDiseaseAssociation"
+ },
+ {
+ "label": "Medical Action",
+ "count": 4,
+ "category": "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation"
}
]
}
diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json
index 82db736ac..ace927e48 100644
--- a/frontend/fixtures/association-table.json
+++ b/frontend/fixtures/association-table.json
@@ -1,7 +1,7 @@
{
"limit": 5,
"offset": 0,
- "total": 4082,
+ "total": 4077,
"items": [
{
"id": "uuid:c0785538-8b41-11ef-b621-6045bdbae67e",
@@ -11,409 +11,388 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease"
],
"subject_taxon": null,
"subject_taxon_label": null,
"predicate": "biolink:has_phenotype",
+ "original_predicate": null,
"object": "HP:0006094",
"original_object": null,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0076740",
- "UPHENO:0003415",
- "UPHENO:0086633",
- "HP:0002813",
- "UPHENO:0002945",
- "UPHENO:0002782",
- "UPHENO:0001003",
+ "HP:0011729",
+ "UPHENO:0005214",
+ "UPHENO:0084763",
+ "UPHENO:0081581",
+ "UPHENO:0076727",
+ "UPHENO:0081440",
"UPHENO:0086635",
- "UPHENO:0002267",
- "UPHENO:0002926",
+ "HP:0040068",
+ "UBERON:0000468",
+ "UBERON:0015061",
+ "UBERON:0011582",
+ "UBERON:0004375",
+ "UBERON:0000075",
+ "UBERON:0001015",
+ "UBERON:0004905",
+ "UBERON:0010912",
+ "UBERON:0001434",
+ "UBERON:0012141",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0002632",
+ "UPHENO:0003432",
+ "UPHENO:0002733",
+ "UPHENO:0076692",
+ "UPHENO:0084761",
+ "HP:0011297",
+ "UPHENO:0002525",
"UPHENO:0086700",
"UPHENO:0079876",
"HP:0011843",
- "UBERON:0004120",
"UBERON:0010708",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0002470",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:0003839",
- "UPHENO:0003066",
- "UPHENO:0077419",
- "UPHENO:0002643",
- "UPHENO:0005092",
- "UPHENO:0002554",
- "UBERON:0010758",
- "UBERON:0004765",
+ "UBERON:0001474",
"HP:0000001",
- "UPHENO:0003015",
+ "UPHENO:0003415",
+ "UPHENO:0086633",
+ "UPHENO:0077421",
"UPHENO:0076723",
"UPHENO:0002905",
"HP:0034430",
"HP:0000924",
+ "UPHENO:0002530",
+ "UPHENO:0003514",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UBERON:0000467",
+ "UBERON:0000153",
+ "UBERON:0000026",
+ "UBERON:0005881",
+ "UBERON:0000383",
+ "UBERON:0002398",
+ "UBERON:0005451",
+ "UBERON:0012140",
+ "UBERON:0012354",
+ "UPHENO:0002269",
+ "UPHENO:0003227",
+ "HP:0001167",
+ "UPHENO:0002861",
+ "HP:0001382",
+ "HP:0002813",
+ "HP:0002817",
+ "UPHENO:0002536",
+ "UPHENO:0076943",
+ "UPHENO:0002830",
+ "UPHENO:0003799",
+ "UPHENO:0076944",
+ "UBERON:0010707",
+ "UBERON:0002204",
+ "UBERON:0010758",
+ "UBERON:0010740",
+ "UBERON:0002513",
+ "UBERON:0003657",
+ "UPHENO:0082875",
+ "UPHENO:0076703",
+ "UPHENO:0002964",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0004710",
+ "UBERON:0002389",
+ "UBERON:0002101",
+ "UBERON:0001460",
+ "UBERON:0002529",
+ "UPHENO:0076740",
+ "UPHENO:0002593",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0003812",
"UPHENO:0002816",
"UPHENO:0004476",
- "UPHENO:0002536",
- "UPHENO:0076692",
- "UPHENO:0084761",
+ "HP:0006256",
+ "UPHENO:0002963",
+ "UPHENO:0002586",
+ "UPHENO:0002385",
+ "UPHENO:0002880",
+ "UBERON:0001062",
+ "UBERON:0034925",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UBERON:0004765",
+ "UPHENO:0001001",
+ "UPHENO:0002983",
+ "UPHENO:0002650",
+ "UPHENO:0002949",
+ "UPHENO:0084448",
+ "HP:0011844",
+ "UPHENO:0005092",
+ "UPHENO:0002554",
+ "UBERON:0034921",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0002544",
+ "UBERON:5002389",
+ "UBERON:0006058",
+ "UBERON:0010538",
+ "UPHENO:0002526",
+ "UPHENO:0002559",
+ "UPHENO:0002648",
"HP:0430046",
"UPHENO:0002600",
"BFO:0000002",
- "UBERON:0002204",
- "UBERON:0011582",
- "UBERON:0015061",
- "UBERON:0004375",
- "UBERON:0002544",
- "UBERON:0004708",
- "UBERON:5002389",
- "UPHENO:0001001",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0002746",
"UPHENO:0001002",
"HP:0006094",
- "UPHENO:0002650",
- "UPHENO:0003799",
- "UBERON:0005451",
- "UBERON:0012140",
- "UBERON:0012354",
- "UBERON:0002398",
- "HP:0011729",
- "BFO:0000002",
+ "UPHENO:0002708",
+ "UPHENO:0002945",
+ "UPHENO:0002782",
+ "UPHENO:0003005",
"UPHENO:0002870",
"UPHENO:0002896",
- "UPHENO:0002648",
- "UBERON:0001062",
- "UBERON:0000061",
- "UBERON:0004905",
- "UBERON:0004381",
+ "HP:0040064",
+ "BFO:0000001",
+ "UBERON:0004120",
+ "UBERON:0000062",
"UBERON:0002428",
- "UPHENO:0002526",
+ "UBERON:0004381",
+ "UBERON:0002091",
+ "UBERON:0004708",
+ "UPHENO:0002944",
+ "UPHENO:0003095",
"UPHENO:0087006",
"HP:0001155",
"HP:0011842",
- "UPHENO:0003432",
- "UPHENO:0002733",
- "UPHENO:0076944",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "UBERON:0034921",
- "UBERON:0011249",
- "UBERON:0010712",
- "UBERON:0002091",
- "UBERON:0000982",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "UPHENO:0004909",
- "UPHENO:0002632",
+ "UPHENO:0003066",
+ "UPHENO:0077419",
+ "UPHENO:0002643",
+ "UPHENO:0001003",
+ "UPHENO:0003049",
"UPHENO:0002568",
- "BFO:0000001",
- "HP:0002817",
- "UPHENO:0003514",
- "BFO:0000001",
+ "UPHENO:0003065",
"UBERON:0004770",
"UBERON:0004288",
- "UBERON:0000468",
- "UBERON:0000153",
- "UBERON:0000026",
"UBERON:5002544",
- "UPHENO:0003095",
- "HP:0005922",
- "UPHENO:0003049",
- "UPHENO:0076727",
- "BFO:0000004",
- "UBERON:0006058",
- "UBERON:0001474",
"UBERON:0010363",
- "UBERON:0010538",
- "UPHENO:0076703",
- "HP:0001167",
- "UPHENO:0002861",
- "UPHENO:0002949",
- "UPHENO:0081440",
- "UBERON:0034925",
- "UPHENO:0002593",
- "UPHENO:0003005",
- "HP:0040068",
- "UPHENO:0002385",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0000465",
- "UBERON:0015212",
- "UBERON:0012141",
- "UPHENO:0077421",
- "UPHENO:0005214",
- "UPHENO:0084763",
- "BFO:0000020",
- "UPHENO:0076943",
- "UPHENO:0084448",
- "UPHENO:0002976",
- "UBERON:0002389",
- "UBERON:0002101",
- "UPHENO:0002944",
- "UPHENO:0002708",
- "HP:0006256",
- "UPHENO:0002963",
- "HP:0040064",
- "UBERON:0000075",
- "UBERON:0000383",
- "UBERON:0001015",
- "UBERON:0001434",
- "UPHENO:0003227",
- "HP:0001382",
- "UPHENO:0002559",
- "UPHENO:0081581",
- "HP:0033127",
- "UPHENO:0003065",
- "BFO:0000040",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000475",
- "UBERON:0000062",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0002513",
- "UBERON:0001460",
- "UBERON:0002529",
- "UBERON:0003657",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "HP:0011844",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "UPHENO:0002731",
- "HP:0000118",
- "UPHENO:0002530",
- "HP:0011297",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UBERON:0010912"
+ "UBERON:0011249",
+ "UBERON:0000982",
+ "UBERON:0010712",
+ "UBERON:0003839",
+ "UBERON:0002102",
+ "UBERON:0002470",
+ "UBERON:0008785",
+ "UBERON:0012139"
],
"object_label": "Finger joint hypermobility",
"object_closure_label": [
- "All",
- "articulation phenotype",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal joint physiology",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "limb bone phenotype",
- "musculature of body phenotype",
- "autopodial extension phenotype",
- "anatomical structure",
- "organism subdivision",
+ "anatomical entity physiology phenotype",
+ "endochondral bone phenotype",
+ "musculature phenotype",
+ "manual digit phenotype",
+ "material anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Abnormality of limb bone",
"organ",
- "digit",
- "paired limb/fin",
- "manual digit plus metapodial segment",
+ "pectoral appendage",
+ "manual digit",
+ "limb",
+ "arm",
+ "limb segment",
+ "limb segment phenotype",
"skeleton of limb phenotype",
+ "Abnormal finger morphology",
+ "appendage phenotype",
"Joint hypermobility",
- "skeletal element phenotype",
- "Abnormality of hand joint mobility",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
- "multi organ part structure",
- "appendicular skeletal system",
- "limb skeleton subdivision",
- "appendicular skeleton",
- "skeletal joint",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "appendicular skeleton phenotype",
+ "endochondral element phenotype",
+ "multi-limb segment region phenotype",
+ "musculoskeletal system phenotype",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "forelimb joint",
+ "forelimb",
+ "autopod region",
+ "upper limb segment",
+ "segment of autopod",
"phenotype",
- "phenotypic effect",
- "Finger joint hypermobility",
- "musculature phenotype",
- "manual digit phenotype",
- "Abnormality of limbs",
+ "forelimb phenotype",
+ "forelimb morphology phenotype",
+ "increased skeletal joint mobility",
+ "Abnormality of the musculoskeletal system",
+ "limb bone morphology phenotype",
+ "paired limb/fin segment phenotype",
+ "independent continuant",
"material entity",
- "multicellular anatomical structure",
- "anatomical system",
- "subdivision of organism along appendicular axis",
"skeletal element",
- "pectoral appendage",
+ "endochondral element",
+ "appendicular skeletal system",
+ "skeletal joint",
+ "limb skeleton subdivision",
+ "manual digitopodium region",
+ "anatomical system physiology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal limb bone morphology",
+ "manus phenotype",
+ "paired limb/fin phenotype",
+ "autopod region phenotype",
+ "skeletal joint phenotype",
+ "increased anatomical entity mobility",
+ "multi organ part structure phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "anatomical structure physiology phenotype",
+ "arm phenotype",
+ "anatomical entity",
+ "mesoderm-derived structure",
+ "limb bone",
+ "skeleton of limb",
+ "appendicular skeleton morphology phenotype",
+ "bone of appendage girdle complex phenotype",
+ "Abnormality of hand joint mobility",
+ "anatomical system phenotype",
+ "musculoskeletal system physiology phenotype",
+ "limb morphology phenotype",
+ "organ system subdivision phenotype",
+ "pectoral complex",
"bone of appendage girdle complex",
"endochondral bone",
- "arm",
- "limb segment",
"limb joint",
- "Abnormality of the upper limb",
- "pectoral appendage phenotype",
- "paired limb/fin segment phenotype",
- "material anatomical entity",
- "multicellular organism",
- "forelimb",
- "autopod region",
- "upper limb segment",
- "segment of autopod",
- "forelimb joint",
- "endochondral bone phenotype",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "manual digit morphology in the manus phenotype",
- "Small joint hypermobilty",
- "limb endochondral element phenotype",
+ "subdivision of skeletal system phenotype",
+ "autopod region morphology phenotype",
+ "Abnormality of the hand",
+ "Abnormal skeletal morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limbs",
"anatomical collection",
+ "multicellular anatomical structure",
+ "multi organ part structure",
+ "organ system subdivision",
+ "organism subdivision",
+ "subdivision of skeletal system",
+ "musculature",
+ "articulation",
+ "subdivision of skeleton",
+ "skeletal system",
+ "bone element",
+ "manus",
"segment of manus",
"digitopodium region",
"acropodium region",
- "manus",
- "Abnormal hand morphology",
- "continuant",
+ "Abnormality of joint mobility",
+ "skeletal element phenotype",
+ "subdivision of skeleton phenotype",
"multicellular organism morphology phenotype",
- "Abnormality of the musculoskeletal system",
- "entity",
- "lateral structure",
- "articulation",
- "skeleton of limb",
- "limb bone",
- "skeletal system morphology phenotype",
- "Abnormal finger morphology",
- "appendage phenotype",
- "taxon specific phenotype",
- "digit morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Abnormal musculoskeletal physiology",
- "pectoral complex",
- "autopodial extension",
- "multi-limb segment region",
- "bone element",
- "endochondral element",
- "paired limb/fin segment",
- "subdivision of organism along appendicular axis phenotype",
- "autopod region morphology phenotype",
- "Abnormality of the hand",
- "Abnormal skeletal morphology",
- "paired limb/fin phenotype",
- "autopod region phenotype",
- "anatomical entity phenotype",
- "Abnormal digit morphology",
"upper limb segment phenotype",
+ "limb phenotype",
+ "skeleton phenotype",
"skeletal joint mobility phenotype",
- "anatomical structure phenotype",
- "subdivision of skeleton",
- "appendicular skeleton morphology phenotype",
- "manus phenotype",
- "skeletal system phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system physiology phenotype",
- "manual digit",
- "limb",
- "limb segment phenotype",
- "increased skeletal joint mobility",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "endochondral element phenotype",
- "quality",
- "musculoskeletal system",
- "paired limb/fin skeleton",
+ "anatomical system",
"limb endochondral element",
+ "paired limb/fin skeleton",
"bone of free limb or fin",
- "anatomical entity physiology phenotype",
- "anatomical system physiology phenotype",
- "limb morphology phenotype",
- "material anatomical entity physiology phenotype",
- "organism subdivision phenotype",
- "independent continuant",
+ "subdivision of organism along appendicular axis",
+ "digit",
+ "manual digit plus metapodial segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "skeletal system morphology phenotype",
+ "articulation phenotype",
+ "bone element phenotype",
+ "limb bone phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "autopodial extension phenotype",
+ "anatomical entity morphology phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal digit morphology",
+ "appendage girdle complex",
"anterior region of body",
"appendage",
+ "autopodial extension",
+ "musculature of body",
+ "appendicular skeleton",
+ "paired limb/fin",
+ "subdivision of organism along appendicular axis phenotype",
+ "phenotypic effect",
+ "Finger joint hypermobility",
+ "skeletal system phenotype",
+ "pectoral appendage phenotype",
+ "Small joint hypermobilty",
+ "limb endochondral element phenotype",
+ "anatomical structure phenotype",
+ "digit morphology phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal musculoskeletal physiology",
+ "continuant",
+ "articular system",
+ "skeleton",
+ "system",
"digit plus metapodial segment",
- "Abnormal limb bone morphology",
- "skeletal joint phenotype",
- "increased anatomical entity mobility",
- "multi organ part structure phenotype",
- "multi-limb segment region phenotype",
- "limb bone morphology phenotype",
- "organ system subdivision phenotype",
- "entity",
- "manual digitopodium region",
- "bone of appendage girdle complex phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "anatomical entity",
- "appendage girdle complex",
+ "All",
"organ phenotype",
- "forelimb phenotype",
- "forelimb morphology phenotype",
- "appendicular skeleton phenotype",
+ "manus morphology phenotype",
+ "digit phenotype",
+ "Abnormal joint physiology",
+ "Abnormality of the skeletal system",
+ "Abnormality of the upper limb",
"limb skeleton subdivision phenotype",
"bone of free limb or fin phenotype",
- "articular system",
- "skeleton",
- "subdivision of skeletal system",
- "musculature of body",
- "musculature",
- "skeletal system",
- "subdivision of skeletal system phenotype",
+ "anatomical entity phenotype",
"anatomical entity mobility phenotype",
- "anatomical entity morphology in the manus phenotype",
- "musculoskeletal system phenotype",
- "mesoderm-derived structure phenotype",
- "mesoderm-derived structure",
- "Abnormality of joint mobility",
- "lateral structure phenotype",
- "Phenotypic abnormality",
- "subdivision of skeleton phenotype",
- "anatomical collection phenotype",
- "Abnormality of limb bone",
- "anatomical structure physiology phenotype",
- "arm phenotype",
- "limb phenotype",
- "system"
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "entity",
+ "lateral structure",
+ "multicellular organism",
+ "musculoskeletal system"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -507,6 +486,18 @@
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
"species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null,
"direction": "outgoing"
},
{
@@ -517,171 +508,152 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease"
],
"subject_taxon": null,
"subject_taxon_label": null,
"predicate": "biolink:has_phenotype",
+ "original_predicate": null,
"object": "HP:0001252",
"original_object": null,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0003808",
- "UPHENO:0002267",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "UPHENO:0002816",
- "UPHENO:0002536",
- "UBERON:0000465",
- "UBERON:0001630",
- "UBERON:0010000",
- "BFO:0000002",
- "UPHENO:0003022",
- "HP:0001252",
- "UBERON:0001062",
- "UBERON:0000061",
- "UPHENO:0002526",
- "UPHENO:0003432",
- "UPHENO:0002525",
"UBERON:0000468",
- "UBERON:0011216",
- "UPHENO:0002568",
- "BFO:0000001",
- "UPHENO:0082555",
- "UPHENO:0001003",
- "BFO:0000001",
+ "UBERON:0001630",
+ "UBERON:0001015",
"UPHENO:0003047",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002359",
- "UPHENO:0002949",
+ "UPHENO:0003432",
"BFO:0000002",
- "UPHENO:0002320",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
"UPHENO:0082557",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UPHENO:0002386",
- "UPHENO:0002976",
- "UPHENO:0002963",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
"UBERON:0000383",
- "UBERON:0001015",
"UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"HP:0033127",
+ "UPHENO:0002976",
"BFO:0000040",
- "UBERON:0000467",
- "UBERON:0000062",
- "UPHENO:0001002",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
"HP:0000118",
- "UPHENO:0002530"
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001"
],
"object_label": "Hypotonia",
"object_closure_label": [
- "All",
- "muscle organ phenotype",
- "Hypotonia",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "phenotype",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "organ system subdivision",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
- "material entity",
- "anatomical system",
- "decreased anatomical entity tone",
- "taxon specific phenotype",
"material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
- "continuant",
- "Abnormality of the musculoskeletal system",
- "entity",
- "specifically dependent continuant",
- "muscle structure physiology phenotype",
- "decreased muscle organ tone",
"multicellular anatomical structure physiology phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
"independent continuant",
- "phenotypic effect",
- "Abnormality of the musculature",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
"entity",
+ "anatomical structure",
"multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
"muscle organ physiology phenotype",
- "multicellular organism phenotype",
- "anatomical entity",
- "organ phenotype",
- "Abnormal muscle tone",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
"musculature of body",
- "musculature",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype"
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -775,6 +747,18 @@
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
"species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null,
"direction": "outgoing"
},
{
@@ -785,233 +769,214 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease"
],
"subject_taxon": null,
"subject_taxon_label": null,
"predicate": "biolink:has_phenotype",
+ "original_predicate": null,
"object": "HP:0003557",
"original_object": null,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "HP:0025354",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UPHENO:0002564",
"UPHENO:0086457",
- "UPHENO:0076710",
- "UBERON:0000467",
- "CL:0000000",
- "UBERON:0005090",
- "UBERON:0018254",
- "UBERON:0004120",
- "HP:0012084",
- "UPHENO:0002554",
- "BFO:0000040",
- "HP:0000001",
- "HP:0004303",
- "UPHENO:0079564",
- "HP:0025461",
- "UPHENO:0002816",
- "UPHENO:0076692",
- "UPHENO:0077801",
- "BFO:0000002",
- "CL:0002242",
- "CL:0000188",
+ "UBERON:0000468",
"CL:0000183",
+ "CL:0000255",
"CL:0000211",
"UBERON:0001630",
"UBERON:0002385",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UPHENO:0079562",
- "UPHENO:0079572",
- "BFO:0000002",
- "UPHENO:0003022",
- "UBERON:0000061",
- "CL:0008002",
+ "UBERON:0001015",
+ "UPHENO:0087047",
+ "UPHENO:0003047",
+ "UPHENO:0079564",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UPHENO:0077801",
+ "UBERON:0000465",
"CL:0000228",
"CL:0000187",
+ "CL:0000188",
"CL:0000393",
"UBERON:0014892",
"UBERON:0002036",
- "UPHENO:0002526",
- "HP:0011805",
- "UPHENO:0003432",
- "UPHENO:0002525",
- "RO:0002577",
- "UBERON:0011216",
- "CL:0002372",
- "CL:0000737",
- "UBERON:0001134",
- "UPHENO:0002568",
- "BFO:0000001",
- "UBERON:0000479",
- "UPHENO:0002720",
- "UPHENO:0002897",
+ "HP:0000001",
+ "HP:0004303",
+ "HP:0003011",
+ "UPHENO:0002530",
"UPHENO:0002536",
- "UBERON:0000468",
- "UPHENO:0087047",
- "UPHENO:0003047",
- "UPHENO:0002564",
- "BFO:0000004",
- "BFO:0000020",
- "UPHENO:0002949",
- "HP:0003557",
- "UPHENO:0075195",
"UPHENO:0086462",
- "UBERON:0000465",
- "UPHENO:0002976",
- "UPHENO:0086172",
- "UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "UPHENO:0081581",
- "UPHENO:0003081",
+ "UPHENO:0076710",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002720",
+ "UPHENO:0002897",
+ "UPHENO:0079572",
+ "CL:0002242",
+ "UPHENO:0002526",
"HP:0033127",
"UPHENO:0001003",
- "BFO:0000001",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "CL:0002372",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
"UBERON:0001062",
+ "BFO:0000001",
+ "RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0088180",
+ "UPHENO:0002554",
+ "UBERON:0011216",
+ "CL:4052002",
+ "CL:0000737",
+ "CL:0008002",
+ "UBERON:0001134",
+ "BFO:0000002",
+ "BFO:0000004",
"UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0003557",
+ "UPHENO:0075195",
+ "UPHENO:0003022",
+ "CL:0000000",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0004120",
+ "UBERON:0000479",
"UBERON:0000062",
- "HP:0003011",
- "UPHENO:0088180",
- "PATO:0000001",
- "HP:0000118",
- "UPHENO:0002530"
+ "UPHENO:0086172",
+ "HP:0011805",
+ "HP:0012084",
+ "UPHENO:0079562",
+ "UPHENO:0002568",
+ "BFO:0000040"
],
"object_label": "Increased variability in muscle fiber diameter",
"object_closure_label": [
- "All",
- "Abnormal muscle fiber morphology",
- "morphology of cell of skeletal muscle phenotype",
- "Abnormal cell morphology",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
+ "skeletal muscle tissue morphology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "tissue",
"organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "continuant",
- "organ system subdivision",
"myotube",
- "striated muscle cell",
- "skeletal muscle tissue",
- "phenotype",
- "phenotypic effect",
- "musculature phenotype",
+ "cell phenotype",
+ "Phenotypic abnormality",
+ "Increased variability in muscle fiber diameter",
+ "size of anatomical entity phenotype",
"morphology of muscle cell phenotype",
- "anatomical entity",
- "multicellular anatomical structure",
- "tissue",
- "muscle tissue phenotype",
- "skeletal muscle organ, vertebrate phenotype",
- "anatomical entity phenotype",
- "entity",
- "material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "anatomical entity morphology phenotype",
- "size of cell phenotype",
- "skeletal muscle tissue morphology phenotype",
- "muscle structure phenotype",
- "continuant",
- "multicellular organism morphology phenotype",
- "skeletal musculature phenotype",
- "Abnormality of the musculoskeletal system",
- "taxon specific phenotype",
- "skeletal muscle fiber",
+ "mesoderm-derived structure phenotype",
+ "anatomical structure",
"multinucleate cell",
"muscle cell",
+ "cell of skeletal muscle",
"electrically responsive cell",
"skeletal muscle organ, vertebrate",
"striated muscle tissue",
- "specifically dependent continuant",
- "size of skeletal muscle fiber phenotype",
- "Abnormal skeletal muscle morphology",
- "anatomical structure phenotype",
- "cell of skeletal muscle morphology phenotype",
- "cell phenotype",
- "Increased variability in muscle fiber diameter",
- "size of anatomical entity phenotype",
- "quality",
- "material entity",
- "nucleate cell",
- "cell of skeletal muscle",
- "contractile cell",
- "electrically active cell",
- "muscle organ",
- "muscle tissue",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "tissue phenotype",
"size of cell of skeletal muscle phenotype",
- "muscle organ morphology phenotype",
"independent continuant",
- "Abnormal cellular phenotype",
- "Abnormality of the musculature",
"Abnormality of skeletal muscle fiber size",
- "tissue phenotype",
- "organ system subdivision phenotype",
+ "cell of skeletal muscle morphology phenotype",
+ "anatomical entity",
"entity",
+ "cell",
+ "skeletal musculature",
+ "muscle structure",
+ "mesoderm-derived structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "Abnormal skeletal muscle morphology",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
"morphology of myotube phenotype",
+ "anatomical system",
+ "contractile cell",
+ "eukaryotic cell",
+ "electrically active cell",
+ "muscle organ",
+ "muscle tissue",
+ "syncytial cell",
+ "striated muscle cell",
+ "skeletal muscle fiber",
+ "skeletal muscle tissue",
"organ phenotype",
+ "morphology of cell of skeletal muscle phenotype",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "size of cell phenotype",
+ "material anatomical entity",
"musculature of body",
- "musculature",
- "mesoderm-derived structure phenotype",
- "anatomical system",
- "cell",
- "muscle structure",
- "skeletal musculature",
- "mesoderm-derived structure",
- "Phenotypic abnormality",
- "system"
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "size of skeletal muscle fiber phenotype",
+ "continuant",
+ "material entity",
+ "system",
+ "All",
+ "Abnormal muscle fiber morphology",
+ "muscle tissue phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism",
+ "nucleate cell"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -1091,6 +1056,18 @@
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
"species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null,
"direction": "outgoing"
},
{
@@ -1101,143 +1078,124 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
"MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0000355",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
"subject_label": "Ullrich congenital muscular dystrophy 1B",
"subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
"congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "Ullrich congenital muscular dystrophy 1B",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Ullrich congenital muscular dystrophy",
+ "nervous system disorder",
+ "human disease"
],
"subject_taxon": null,
"subject_taxon_label": null,
"predicate": "biolink:has_phenotype",
+ "original_predicate": null,
"object": "HP:0001270",
"original_object": null,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0002267",
- "UBERON:0001016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "BFO:0000002",
"HP:0000001",
- "UPHENO:0002536",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
"UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0001002",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
"HP:0012638",
- "UBERON:0010000",
- "BFO:0000002",
+ "UBERON:0001016",
+ "UPHENO:0082875",
"UBERON:0000061",
- "UPHENO:0002525",
- "UBERON:0000468",
- "HP:0000707",
- "UPHENO:0002568",
- "BFO:0000001",
- "HP:0012759",
- "UPHENO:0001003",
- "BFO:0000001",
- "BFO:0000004",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
"UPHENO:0002949",
- "BFO:0000002",
"UPHENO:0004523",
- "UPHENO:0002385",
- "BFO:0000020",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0002963",
- "HP:0001270",
- "BFO:0000040",
"UBERON:0001062",
- "UBERON:0000467",
- "PATO:0000001",
- "UPHENO:0082875",
- "UPHENO:0002269",
- "HP:0000118",
- "UPHENO:0002530"
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004"
],
"object_label": "Motor delay",
"object_closure_label": [
- "All",
- "anatomical structure",
- "Motor delay",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "multicellular organism",
- "phenotype",
- "phenotypic effect",
- "material entity",
- "anatomical entity",
- "anatomical system",
- "Neurodevelopmental abnormality",
- "taxon specific phenotype",
+ "anatomical entity physiology phenotype",
"material anatomical entity phenotype",
- "continuant",
- "continuant",
- "entity",
"nervous system phenotype",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
"material anatomical entity",
- "nervous system physiology phenotype",
- "quality",
- "anatomical entity physiology phenotype",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
"anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "entity",
- "multicellular anatomical structure",
- "specifically dependent continuant",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
"multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
"Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "continuant",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
"Abnormality of the nervous system",
- "nervous system",
+ "anatomical entity phenotype",
"Neurodevelopmental delay",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype"
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -1317,6 +1275,18 @@
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
"species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null,
"direction": "outgoing"
},
{
@@ -1327,177 +1297,158 @@
"subject_namespace": "MONDO",
"subject_category": "biolink:Disease",
"subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "MONDO:0100225",
+ "MONDO:0100545",
"MONDO:0024530",
"MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
+ "MONDO:0008029",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0100225",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0019952",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0016106"
],
"subject_label": "Bethlem myopathy 1A",
"subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
"congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "progressive muscular dystrophy",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
"collagen 6-related myopathy",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "Bethlem myopathy",
+ "nervous system disorder",
"Bethlem myopathy 1A",
"qualitative or quantitative protein defects in neuromuscular diseases",
- "human disease",
- "hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "human disease"
],
"subject_taxon": null,
"subject_taxon_label": null,
"predicate": "biolink:has_phenotype",
+ "original_predicate": null,
"object": "HP:0003701",
"original_object": null,
"object_namespace": "HP",
"object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "UPHENO:0080555",
- "UPHENO:0001003",
- "UPHENO:0002267",
- "UBERON:0000467",
- "UBERON:0005090",
- "HP:0011804",
- "HP:0000001",
- "HP:0001324",
- "UPHENO:0002816",
- "UPHENO:0002536",
+ "UBERON:0000468",
"UBERON:0001630",
- "UPHENO:0001001",
- "UPHENO:0001002",
- "UBERON:0010000",
- "UPHENO:0003022",
- "UBERON:0000061",
- "HP:0003701",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
"UPHENO:0003432",
+ "BFO:0000002",
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
"UPHENO:0002525",
- "UBERON:0011216",
- "UPHENO:0080556",
- "UPHENO:0002568",
- "BFO:0000001",
- "BFO:0000001",
- "UBERON:0000468",
- "UPHENO:0003047",
- "BFO:0000004",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
"UPHENO:0002526",
- "UPHENO:0002359",
- "UPHENO:0002949",
- "BFO:0000002",
- "UPHENO:0002320",
- "BFO:0000002",
- "UPHENO:0002308",
- "UPHENO:0002385",
- "UBERON:0000465",
- "BFO:0000020",
- "UPHENO:0002386",
+ "HP:0033127",
"UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002816",
"UPHENO:0002963",
- "UBERON:0000383",
- "UBERON:0001015",
- "HP:0033127",
+ "UPHENO:0002385",
+ "UPHENO:0001001",
+ "UPHENO:0002386",
+ "HP:0011804",
"BFO:0000040",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
"UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
"UBERON:0000062",
- "HP:0003011",
- "PATO:0000001",
- "UPHENO:0082875",
- "HP:0000118",
- "UPHENO:0002530"
+ "HP:0003701",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568"
],
"object_label": "Proximal muscle weakness",
"object_closure_label": [
- "All",
- "Muscle weakness",
- "muscle organ phenotype",
- "musculature of body phenotype",
- "anatomical structure",
- "organ",
- "anatomical system phenotype",
- "multicellular anatomical structure phenotype",
- "organ system subdivision",
- "phenotype",
- "phenotypic effect",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
"musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
"material entity",
- "anatomical entity",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
"material anatomical entity",
- "multicellular organism",
- "material anatomical entity phenotype",
- "continuant",
- "muscle structure phenotype",
+ "anatomical structure",
+ "phenotype",
"Abnormality of the musculoskeletal system",
- "entity",
- "organ phenotype",
+ "independent continuant",
"muscle structure physiology phenotype",
- "taxon specific phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Proximal muscle weakness",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "muscle structure",
"decreased anatomical entity strength",
- "anatomical entity phenotype",
- "anatomical structure phenotype",
- "quality",
- "muscle organ",
- "anatomical entity physiology phenotype",
- "material anatomical entity physiology phenotype",
- "independent continuant",
- "Abnormality of the musculature",
+ "anatomical system phenotype",
"organ system subdivision phenotype",
- "entity",
+ "Proximal muscle weakness",
"multicellular anatomical structure",
- "muscle organ physiology phenotype",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "decreased muscle organ strength",
- "musculature of body",
+ "organ system subdivision",
"musculature",
- "continuant",
- "organ physiology phenotype",
- "Abnormal muscle physiology",
+ "muscle organ physiology phenotype",
"anatomical system",
- "muscle structure",
- "Phenotypic abnormality",
- "anatomical structure physiology phenotype"
+ "muscle organ",
+ "organ phenotype",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity",
+ "continuant",
+ "musculature of body",
+ "phenotypic effect",
+ "All",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
@@ -1573,6 +1524,18 @@
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
"species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null,
"direction": "outgoing"
}
],
diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json
index 192a28d25..557355af8 100644
--- a/frontend/fixtures/associations-compact.json
+++ b/frontend/fixtures/associations-compact.json
@@ -1,186 +1,186 @@
{
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 11435,
"items": [
{
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002465",
+ "object_label": "Poor speech",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002435",
+ "object_label": "Meningocele",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
- "object_label": "myopathy caused by variation in POMGNT2",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0010864",
+ "object_label": "Intellectual disability, severe",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
- "object_label": "congenital fibrosis of extraocular muscles",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0003712",
+ "object_label": "Skeletal muscle hypertrophy",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001276",
+ "object_label": "Hypertonia",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001270",
+ "object_label": "Motor delay",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001270",
+ "object_label": "Motor delay",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001288",
+ "object_label": "Gait disturbance",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "object_label": "oculopharyngeal muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "subject_label": "Bethlem myopathy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001250",
+ "object_label": "Seizure",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "subject_label": "Bethlem myopathy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
- "object_label": "Bethlem myopathy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001252",
+ "object_label": "Hypotonia",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001252",
+ "object_label": "Hypotonia",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
- "object_label": "Ullrich congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001249",
+ "object_label": "Intellectual disability",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
- "object_label": "collagen 6-related congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001249",
+ "object_label": "Intellectual disability",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001263",
+ "object_label": "Global developmental delay",
"negated": null
},
{
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
- "object_label": "congenital muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0001263",
+ "object_label": "Global developmental delay",
"negated": null
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007360",
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
"negated": null
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007361",
+ "object_label": "Abnormal pons morphology",
"negated": null
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "object_label": "Duchenne muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0007340",
+ "object_label": "Lower limb muscle weakness",
"negated": null
},
{
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "subject_label": "GMPPB",
+ "predicate": "biolink:has_phenotype",
+ "object": "HP:0002518",
+ "object_label": "Abnormal periventricular white matter morphology",
"negated": null
}
],
diff --git a/frontend/fixtures/associations.json b/frontend/fixtures/associations.json
index 183722d4c..ce2045cb2 100644
--- a/frontend/fixtures/associations.json
+++ b/frontend/fixtures/associations.json
@@ -1,189 +1,127 @@
{
"limit": 20,
"offset": 0,
- "total": 5079,
+ "total": 11435,
"items": [
{
- "id": "urn:uuid:c3d2efc2-8a36-49a0-918a-e722adbe7cf4",
- "category": "biolink:Association",
- "subject": "MONDO:0100531",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "MONDO:0005267",
- "BFO:0000016",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0100531",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106"
- ],
- "subject_label": "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "Emery-Dreifuss muscular dystrophy 1, X-linked",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "continuant",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "entity"
- ],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
+ "id": "uuid:b35b6907-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0002465",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
+ "HP:0002465",
+ "UPHENO:0002433",
+ "HP:0002167",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106"
+ "HP:0000001",
+ "HP:0025792",
+ "UPHENO:0002530",
+ "HP:0034434",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000061",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
+ "UPHENO:0002385",
+ "BFO:0000040",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "HP:4000072",
+ "UPHENO:0001003"
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "object_label": "Poor speech",
"object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "Poor speech",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular anatomical structure",
+ "Abnormal speech pattern",
+ "multicellular anatomical structure phenotype",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
+ "material anatomical entity",
"continuant",
- "familial dilated cardiomyopathy",
- "entity"
+ "phenotype",
+ "Abnormal language feature",
+ "phenotypic effect",
+ "Abnormal communication",
+ "All",
+ "Abnormal cognitive process",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0100531||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002465",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -195,9 +133,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -207,168 +145,314 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:405a1cb8-b345-4fc5-806c-86aab74869a3",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
"MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
"MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
+ "MONDO:0018276",
"MONDO:0020120",
- "MONDO:0700069",
"MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
"MONDO:0015286",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0018278"
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
"muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
"congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
+ "disorder of glycosylation",
"hereditary neuromuscular disease",
"hereditary neurological disease",
- "musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6909-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0002435",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "HP:0034238",
+ "UPHENO:0081581",
+ "UPHENO:0051150",
+ "HP:0002435",
+ "UPHENO:0076702",
+ "UBERON:0005423",
+ "UPHENO:0076791",
+ "HP:0000707",
+ "UPHENO:0076692",
+ "UBERON:0006598",
+ "UBERON:0001017",
+ "UBERON:0002360",
+ "UBERON:0010371",
+ "UBERON:0016880",
+ "UBERON:0016879",
+ "UBERON:0000483",
+ "UBERON:0005291",
+ "UBERON:0003914",
+ "GO:0009790",
+ "GO:0048729",
+ "GO:0048598",
+ "GO:0035239",
+ "GO:0035148",
+ "GO:0009888",
+ "GO:0048731",
+ "GO:0035295",
+ "GO:0009792",
+ "GO:0002009",
+ "GO:0016331",
+ "GO:0060562",
+ "GO:0072175",
+ "GO:0060429",
+ "GO:0060606",
+ "GO:0007399",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002525",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "GO:0001841",
+ "GO:0014020",
+ "HP:0045005",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UBERON:0001016",
+ "UBERON:0001049",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "GO:0009653",
+ "GO:0048646",
+ "GO:0048856",
+ "UPHENO:0051077",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0034925",
+ "GO:0032501",
+ "GO:0032502",
+ "UBERON:0000094",
+ "UBERON:0000025",
+ "UBERON:0000922",
+ "UPHENO:0001002",
+ "UPHENO:0049623",
+ "UPHENO:0050108",
+ "UBERON:0002050",
+ "GO:0008150",
+ "UBERON:0011216",
+ "GO:0007275",
+ "UPHENO:0002949",
+ "HP:0410043",
+ "UPHENO:0004523",
+ "HP:0010651",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "BFO:0000003",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0021915",
+ "UPHENO:0001001",
+ "UPHENO:0002548",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "UBERON:0000479",
+ "UBERON:0000062",
+ "UBERON:0004111",
+ "UBERON:0000468",
+ "GO:0043009",
+ "GO:0001838",
+ "GO:0001843",
+ "UPHENO:0051003",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0049587",
+ "BFO:0000015",
+ "UBERON:0010743"
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Meningocele",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "material anatomical entity phenotype",
+ "Abnormal neural tube morphology",
+ "nervous system phenotype",
+ "Meningocele",
+ "nervous system morphology phenotype",
+ "biological_process",
+ "tissue",
+ "organ",
+ "anatomical conduit",
+ "multicellular organism",
+ "multicellular organism development",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "tube closure phenotype",
+ "biological_process phenotype",
+ "independent continuant",
+ "embryonic structure",
+ "material entity",
+ "membrane organ",
+ "tube",
+ "embryo",
+ "Closed neural tube defect",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity",
+ "developing anatomical structure",
+ "presumptive structure",
+ "chordate embryonic development",
+ "embryonic epithelial tube formation",
+ "neural tube closure",
+ "neural tube closure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "meninx",
+ "ecto-epithelium",
+ "future nervous system",
+ "future central nervous system",
+ "epithelium",
+ "embryonic tissue",
+ "tube formation phenotype",
+ "anatomical structure",
+ "anatomical collection",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "epithelial tube",
+ "neural tube formation",
+ "primary neural tube formation",
+ "phenotypic effect",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "developmental process phenotype",
+ "multicellular organism morphology phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "neural tube",
+ "central nervous system morphology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "embryo development ending in birth or egg hatching",
+ "morphogenesis of an epithelium",
+ "morphogenesis of embryonic epithelium",
+ "epithelial tube morphogenesis",
+ "epithelial tube formation",
+ "epithelium development",
+ "tube closure",
+ "nervous system development",
+ "phenotype",
+ "Abnormal meningeal morphology",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "occurrent",
+ "process",
+ "meningeal cluster",
+ "multicellular organismal process",
+ "developmental process",
+ "anatomical structure morphogenesis",
+ "anatomical structure formation involved in morphogenesis",
+ "anatomical structure development",
+ "embryo development",
+ "tissue morphogenesis",
+ "embryonic morphogenesis",
+ "tube morphogenesis",
+ "tube formation",
+ "tissue development",
+ "system development",
+ "tube development",
+ "All",
+ "Neural tube defect",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "anatomical structure phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "nervous system",
+ "neural tube development"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002435",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -380,9 +464,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -392,168 +476,192 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:2f87c310-fec5-4095-8401-bf84c89fc569",
- "category": "biolink:Association",
- "subject": "MONDO:0700075",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "BFO:0000016",
- "MONDO:0045010",
- "MONDO:0020120",
- "MONDO:0700069",
- "MONDO:0019056",
- "MONDO:0700075",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0017741",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0015286",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0024322",
- "BFO:0000017",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
- "subject_label": "congenital muscular dystrophy caused by variation in POMGNT2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
- "inborn errors of metabolism",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "congenital muscular dystrophy caused by variation in POMGNT2",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
"myopathy",
- "disorder of protein O-glycosylation",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "metabolic disease",
- "glycoprotein metabolism disease",
- "disposition",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0700069",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b690c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0010864",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0005066",
- "MONDO:0019052",
- "MONDO:0045010",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0700069",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "BFO:0000017",
- "BFO:0000016",
- "MONDO:0017741",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0015286",
- "MONDO:0002081",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0000061",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "BFO:0000040",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0024322",
- "MONDO:0003847",
- "MONDO:0000001"
+ "BFO:0000003",
+ "UPHENO:0001003",
+ "HP:0010864",
+ "BFO:0000015"
],
- "object_label": "myopathy caused by variation in POMGNT2",
+ "object_label": "Intellectual disability, severe",
"object_closure_label": [
- "skeletal muscle disorder",
- "myopathy caused by variation in POMGNT2",
- "disease",
- "muscle tissue disorder",
- "congenital disorder of glycosylation",
- "realizable entity",
- "entity",
- "inborn errors of metabolism",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material entity",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "material anatomical entity",
+ "Intellectual disability, severe",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "Abnormality of mental function",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "Abnormal nervous system physiology",
+ "occurrent",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "musculoskeletal system disorder",
- "disposition",
- "hereditary skeletal muscle disorder",
- "disease",
- "disorder of glycosylation",
- "myopathy",
- "disorder of protein O-glycosylation",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "metabolic disease",
- "glycoprotein metabolism disease"
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0700075||biolink:subclass_of|MONDO:0700069",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0010864",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -565,9 +673,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -577,178 +685,204 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:385545b5-6092-4884-9e9c-eaa9e271f3aa",
- "category": "biolink:Association",
- "subject": "MONDO:0800209",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "MONDO:0800209",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0007614",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
],
- "subject_label": "fibrosis of extraocular muscles, congenital, 3b",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder",
- "fibrosis of extraocular muscles, congenital, 3b"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0007614",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6915-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0003712",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0081581",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0001584",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0007614",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0003569"
+ "HP:0000001",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0002536",
+ "HP:0033127",
+ "UPHENO:0001003",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0001001",
+ "HP:0003712",
+ "UPHENO:0001002",
+ "HP:0030236",
+ "UBERON:0011216",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "HP:0011805",
+ "UPHENO:0002963",
+ "UPHENO:0002568",
+ "BFO:0000001"
],
- "object_label": "congenital fibrosis of extraocular muscles",
+ "object_label": "Skeletal muscle hypertrophy",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "cranial nerve neuropathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "organ",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "anatomical structure",
+ "phenotype",
+ "Abnormality of the musculoskeletal system",
+ "taxon specific phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system phenotype",
+ "Abnormality of muscle size",
+ "skeletal musculature",
+ "muscle structure",
+ "organ system subdivision phenotype",
"entity",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "ocular motility disease",
- "disorder of visual system",
- "disease",
- "congenital fibrosis of extraocular muscles",
- "myopathy",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition"
+ "Abnormal skeletal muscle morphology",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "Skeletal muscle hypertrophy",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
+ "continuant",
+ "musculature of body",
+ "All",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "muscle organ morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0800209||biolink:subclass_of|MONDO:0007614",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0003712",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -760,9 +894,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -772,198 +906,210 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:2b6bf9c8-5099-414e-9bfc-eef68b3929fd",
- "category": "biolink:Association",
- "subject": "MONDO:0800318",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "MONDO:0005267",
- "BFO:0000020",
- "MONDO:0800318",
"MONDO:0700223",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
],
- "subject_label": "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "subject_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "Emery-Dreifuss muscular dystrophy 6, X-linked",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "heart disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
- "familial dilated cardiomyopathy",
- "disposition"
- ],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0010680",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
+ ],
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6918-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001276",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0004995",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0016830",
- "MONDO:0004994",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000425",
- "MONDO:0010680",
- "MONDO:0700096",
- "MONDO:0000591",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0005267",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UPHENO:0002526",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0002949",
+ "HP:0001276",
+ "UPHENO:0002308",
"BFO:0000002",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0016333",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000017",
- "MONDO:0005217",
- "MONDO:0100547",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0005021",
- "MONDO:0021106"
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0003022",
+ "BFO:0000001",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004"
],
- "object_label": "X-linked Emery-Dreifuss muscular dystrophy",
+ "object_label": "Hypertonia",
"object_closure_label": [
- "cardiomyopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "X-linked disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "heart disorder",
- "disposition",
- "progressive muscular dystrophy",
- "dilated cardiomyopathy",
- "laminopathy",
- "muscular dystrophy",
- "cardiogenetic disease",
- "hereditary skeletal muscle disorder",
- "Emery-Dreifuss muscular dystrophy",
- "disease",
- "familial cardiomyopathy",
- "myopathy",
- "specifically dependent continuant",
- "cardiovascular disorder",
- "human disease",
- "intrinsic cardiomyopathy",
- "hereditary disease",
- "X-linked Emery-Dreifuss muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "Hypertonia",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "material anatomical entity",
+ "anatomical structure",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "anatomical system",
+ "muscle organ",
+ "organ phenotype",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "musculature of body",
+ "phenotypic effect",
"continuant",
- "familial dilated cardiomyopathy",
- "entity"
+ "independent continuant",
+ "All",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0800318||biolink:subclass_of|MONDO:0010680",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001276",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -975,9 +1121,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -987,166 +1133,176 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:2d992073-c362-4676-a4fb-5c725f8175d1",
- "category": "biolink:Association",
- "subject": "MONDO:0957270",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0016971",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0957270",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 28",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 28",
"myopathy",
- "limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "entity"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b691a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001270",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001"
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004"
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Motor delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity"
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0957270||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -1158,9 +1314,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -1170,154 +1326,186 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:02519cdf-3922-4d4f-a606-8951db2d0ba4",
- "category": "biolink:Association",
- "subject": "MONDO:0958077",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
"MONDO:0005071",
- "BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
"MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
],
- "subject_label": "collagen 6-related congenital muscular dystrophy",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b691c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001270",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "HP:0001270",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000004"
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Motor delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "material anatomical entity",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical system phenotype",
+ "multicellular organism phenotype",
+ "multicellular anatomical structure",
+ "Motor delay",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "phenotype",
+ "phenotypic effect",
+ "independent continuant",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958077||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001270",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -1329,9 +1517,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -1341,170 +1529,260 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:cdf868e1-085e-4f2a-a113-759256c509d8",
- "category": "biolink:Association",
- "subject": "MONDO:0958176",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "MONDO:0008116",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0958176",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
],
- "subject_label": "oculopharyngeal muscular dystrophy 1",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "oculopharyngeal muscular dystrophy 1",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "eye adnexa disorder"
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b691e-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001288",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UPHENO:0049708",
+ "UPHENO:0079833",
+ "UPHENO:0049703",
+ "HP:0000707",
+ "UPHENO:0002525",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "GO:0050881",
+ "NBO:0000313",
+ "GO:0050877",
+ "GO:0050882",
+ "NBO:0000338",
+ "GO:0050905",
+ "HP:0000001",
+ "UPHENO:0050613",
+ "UPHENO:0002530",
+ "UPHENO:0050606",
+ "UPHENO:0002536",
+ "UPHENO:0079826",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012638",
+ "UPHENO:0050875",
+ "UBERON:0001016",
+ "UPHENO:0050106",
+ "UPHENO:0082875",
+ "UPHENO:0049699",
+ "UBERON:0000061",
+ "UPHENO:0049622",
+ "HP:0100022",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "GO:0032501",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "HP:0001288",
+ "GO:0008150",
+ "UBERON:0000468",
+ "GO:0050879",
+ "GO:0007610",
+ "GO:0003008",
+ "UPHENO:0004523",
+ "BFO:0000003",
+ "NBO:0000403",
+ "NBO:0000001",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "UPHENO:0049587",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001"
+ "BFO:0000015",
+ "BFO:0000040"
],
- "object_label": "oculopharyngeal muscular dystrophy",
+ "object_label": "Gait disturbance",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "multicellular organismal process phenotype",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "voluntary musculoskeletal movement phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "multicellular organismal movement",
+ "behavior",
+ "system process",
+ "Phenotypic abnormality",
+ "anatomical structure",
+ "phenotype",
+ "biological_process phenotype",
+ "anatomical system physiology phenotype",
+ "behavior phenotype",
+ "anatomical system phenotype",
+ "Gait disturbance",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "voluntary movement behavior",
+ "body part movement",
+ "Abnormality of movement",
+ "nervous system process phenotype",
+ "voluntary movement behavior phenotype",
+ "entity",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "neuromuscular process phenotype",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "multicellular organismal movement phenotype",
+ "taxon specific phenotype",
+ "material anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity"
+ "voluntary musculoskeletal movement",
+ "kinesthetic behavior",
+ "neuromuscular process",
+ "anatomical entity phenotype",
+ "behavior process phenotype",
+ "anatomical structure phenotype",
+ "occurrent",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "musculoskeletal movement",
+ "behavior process",
+ "nervous system process",
+ "All",
+ "musculoskeletal movement phenotype",
+ "system process phenotype",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "multicellular anatomical structure",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958176||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001288",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040281",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -1516,9 +1794,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -1528,170 +1806,172 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:034d4f2c-a3f6-42f6-afa6-dddaac5b15a7",
- "category": "biolink:Association",
- "subject": "MONDO:0958195",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0958195",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "BFO:0000020",
- "MONDO:0002022",
- "MONDO:0024458",
"MONDO:0700223",
- "MONDO:0004746",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
- "subject_label": "oculopharyngeal muscular dystrophy 2",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
"myopathy",
- "oculopharyngeal muscular dystrophy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "oculopharyngeal muscular dystrophy 2",
- "eye adnexa disorder",
- "disposition"
- ],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008116",
- "original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
- "object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0000462",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0008116",
- "MONDO:0002022",
- "MONDO:0024458",
- "MONDO:0700223",
- "MONDO:0004746",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001"
- ],
- "object_label": "oculopharyngeal muscular dystrophy",
- "object_closure_label": [
"skeletal muscle disorder",
"neuromuscular disease",
- "disease",
- "muscle tissue disorder",
+ "congenital nervous system disorder",
"nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "disorder of orbital region",
- "hereditary skeletal muscle disorder",
- "myopathy of extraocular muscle",
- "disorder of visual system",
- "disease",
- "myopathy",
- "oculopharyngeal muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "eye adnexa disorder",
- "disposition",
- "entity"
+ "human disease"
+ ],
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6924-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001250",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
+ "object_closure": [
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000002",
+ "BFO:0000004",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568"
+ ],
+ "object_label": "Seizure",
+ "object_closure_label": [
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
+ "continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958195||biolink:subclass_of|MONDO:0008116",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -1703,9 +1983,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -1715,166 +1995,172 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:0768c5ef-9fcd-4678-a304-dcca1ad4f13b",
- "category": "biolink:Association",
- "subject": "MONDO:0958233",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0958233",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
- "subject_label": "Bethlem myopathy 1B",
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "Bethlem myopathy 1B",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6925-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001250",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "HP:0000707",
+ "HP:0000001",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "HP:0001250",
+ "UBERON:0000468",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001"
+ "BFO:0000004",
+ "BFO:0000001",
+ "UPHENO:0001003",
+ "UPHENO:0002568"
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Seizure",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
+ "anatomical entity physiology phenotype",
+ "nervous system phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Seizure",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical system phenotype",
+ "multicellular organism",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
+ "All",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
"entity",
- "congenital muscular dystrophy"
+ "multicellular anatomical structure",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958233||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001250",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -1886,9 +2172,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -1898,166 +2184,238 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:d1747e5a-0b37-4bcf-8ec8-cbc9d5fca0bb",
- "category": "biolink:Association",
- "subject": "MONDO:0958234",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958234",
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000002",
- "BFO:0000016",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
],
- "subject_label": "Bethlem myopathy 1C",
- "subject_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "disposition",
- "Bethlem myopathy 1C",
- "progressive muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "congenital muscular dystrophy"
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0008029",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6929-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001252",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "MONDO:0008029",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001"
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001"
],
- "object_label": "Bethlem myopathy",
+ "object_label": "Hypotonia",
"object_closure_label": [
- "Bethlem myopathy",
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "specifically dependent continuant",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "human disease",
- "hereditary disease",
- "continuant",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "congenital muscular dystrophy"
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "continuant",
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958234||biolink:subclass_of|MONDO:0008029",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2069,9 +2427,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2081,162 +2439,204 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:5222c632-e6ff-48d6-aa6e-bee3197db19b",
- "category": "biolink:Association",
- "subject": "MONDO:0958235",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0958235",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
],
- "subject_label": "Ullrich congenital muscular dystrophy 1B",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
"myopathy",
- "Ullrich congenital muscular dystrophy 1B",
- "specifically dependent continuant",
- "human disease",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b692a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001252",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "UPHENO:0003432",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001"
+ "HP:0000001",
+ "HP:0003808",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0082557",
+ "UPHENO:0002267",
+ "UPHENO:0002525",
+ "UBERON:0000465",
+ "UBERON:0000467",
+ "UBERON:0000383",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002963",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UPHENO:0001002",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UPHENO:0002320",
+ "UPHENO:0082555",
+ "UPHENO:0002526",
+ "UPHENO:0002949",
+ "UPHENO:0002308",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0003022",
+ "HP:0001252",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UPHENO:0002359",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000001"
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Hypotonia",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "material anatomical entity",
+ "organ",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "Abnormal muscle physiology",
+ "Abnormal muscle tone",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "muscle structure physiology phenotype",
+ "organ physiology phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "muscle structure",
+ "anatomical system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
+ "anatomical structure",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "phenotypic effect",
+ "anatomical system",
+ "muscle organ",
+ "muscle organ phenotype",
+ "Hypotonia",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "musculature of body",
+ "decreased muscle organ tone",
+ "All",
+ "decreased anatomical entity tone",
+ "organ phenotype",
+ "Abnormality of the musculature",
+ "anatomical entity phenotype",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958235||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001252",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2248,9 +2648,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2260,162 +2660,224 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:89e5d336-99af-4738-beba-65d47ba9bc21",
- "category": "biolink:Association",
- "subject": "MONDO:0958236",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958236",
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0019952",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
],
- "subject_label": "Ullrich congenital muscular dystrophy 1C",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "specifically dependent continuant",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Ullrich congenital muscular dystrophy 1C",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "congenital muscular dystrophy"
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0000355",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b692f-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001249",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "MONDO:0000355",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
"BFO:0000001",
- "MONDO:0002320",
- "MONDO:0019952",
- "MONDO:0003847",
- "MONDO:0000001"
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040"
],
- "object_label": "Ullrich congenital muscular dystrophy",
+ "object_label": "Intellectual disability",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "entity",
- "congenital nervous system disorder",
- "congenital myopathy",
- "Ullrich congenital muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958236||biolink:subclass_of|MONDO:0000355",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040281",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2427,9 +2889,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Very frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2439,158 +2901,200 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:87e4a926-68eb-4211-8062-81a54a0514e4",
- "category": "biolink:Association",
- "subject": "MONDO:0958353",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0958353",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000002",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
],
- "subject_label": "intermediate collagen VI-related muscular dystrophy",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "intermediate collagen VI-related muscular dystrophy",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "continuant",
- "disposition",
- "entity",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0958077",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6930-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001249",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0001249",
+ "HP:0000707",
"BFO:0000002",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "MONDO:0958077",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "GO:0050877",
+ "GO:0050890",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0002267",
+ "UBERON:0010000",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "HP:0012759",
+ "HP:0012638",
+ "UPHENO:0002525",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "HP:0011446",
+ "UBERON:0000465",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "GO:0032501",
+ "GO:0008150",
+ "GO:0003008",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "BFO:0000001",
+ "BFO:0000003",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
+ "UPHENO:0002568",
+ "BFO:0000015",
+ "BFO:0000040"
],
- "object_label": "collagen 6-related congenital muscular dystrophy",
+ "object_label": "Intellectual disability",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "collagen 6-related congenital muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
+ "anatomical entity physiology phenotype",
+ "Intellectual disability",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "biological_process",
+ "system process",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "anatomical system physiology phenotype",
+ "anatomical system phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "Abnormality of mental function",
+ "anatomical structure",
+ "Abnormal nervous system physiology",
+ "anatomical structure phenotype",
+ "occurrent",
+ "multicellular anatomical structure",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
+ "cognition",
+ "phenotype",
+ "phenotypic effect",
+ "anatomical entity phenotype",
+ "process",
+ "material entity",
+ "multicellular organismal process",
+ "nervous system process",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "multicellular anatomical structure phenotype",
+ "material anatomical entity physiology phenotype",
"entity",
- "congenital muscular dystrophy"
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0958353||biolink:subclass_of|MONDO:0958077",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001249",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2602,9 +3106,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2614,166 +3118,210 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:f170926f-95a4-42ad-991e-c6ef1fcb6f75",
- "category": "biolink:Association",
- "subject": "MONDO:0971171",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
"MONDO:0700096",
+ "MONDO:0700223",
"MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000001",
- "BFO:0000002",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
"MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
"MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "BFO:0000017",
- "MONDO:0971171",
- "MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
],
- "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 29",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "autosomal recessive limb-girdle muscular dystrophy",
- "realizable entity",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "entity",
- "progressive muscular dystrophy",
- "muscular dystrophy",
+ "autosomal recessive limb-girdle muscular dystrophy",
"autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "muscular dystrophy, limb-girdle, autosomal recessive 29",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
+ "congenital disorder of glycosylation",
"limb-girdle muscular dystrophy",
- "continuant",
- "specifically dependent continuant",
- "human disease",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "autosomal genetic disease",
- "disposition"
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0015152",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6933-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001263",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0000429",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "MONDO:0016971",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0006025",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0015152",
- "MONDO:0003847",
- "MONDO:0000001"
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003"
],
- "object_label": "autosomal recessive limb-girdle muscular dystrophy",
+ "object_label": "Global developmental delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "autosomal recessive limb-girdle muscular dystrophy",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "autosomal recessive disease",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "limb-girdle muscular dystrophy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "autosomal genetic disease",
- "disposition",
- "entity"
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
+ "entity",
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:0971171||biolink:subclass_of|MONDO:0015152",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2785,9 +3333,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2797,154 +3345,186 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
- "species_context_qualifier": null,
- "species_context_qualifier_label": null,
- "species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
- },
- {
- "id": "urn:uuid:0cf00103-088b-4832-b0db-27a8c44d47e5",
- "category": "biolink:Association",
- "subject": "MONDO:1040033",
- "original_subject": null,
- "subject_namespace": "MONDO",
- "subject_category": "biolink:Disease",
- "subject_closure": [
- "MONDO:0005336",
- "BFO:0000016",
- "BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
"MONDO:0700096",
- "MONDO:1040033",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000020",
- "MONDO:0019950",
"MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
+ "MONDO:0003939",
+ "MONDO:0000001",
"MONDO:0002081",
- "BFO:0000001",
- "MONDO:0002320",
- "BFO:0000017",
+ "MONDO:0005066",
+ "MONDO:0020121",
"MONDO:0003847",
- "MONDO:0000001"
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
],
- "subject_label": "congenital muscular dystrophy without intellectual disability",
- "subject_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
+ "disease_context_qualifier_closure_label": [
"disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "entity",
- "congenital nervous system disorder",
- "realizable entity",
- "continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
+ "hereditary skeletal muscle disorder",
"musculoskeletal system disorder",
- "specifically dependent continuant",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
"muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
"myopathy",
- "human disease",
- "congenital muscular dystrophy without intellectual disability",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
"hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
],
- "subject_taxon": null,
- "subject_taxon_label": null,
- "predicate": "biolink:subclass_of",
- "object": "MONDO:0019950",
+ "species_context_qualifier": null,
+ "species_context_qualifier_label": null,
+ "species_context_qualifier_namespace": null,
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
+ },
+ {
+ "id": "uuid:b35b6935-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
+ "subject_closure": null,
+ "subject_label": "GMPPB",
+ "subject_closure_label": null,
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0001263",
"original_object": null,
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
- "BFO:0000016",
+ "UPHENO:0002433",
+ "UBERON:0000468",
+ "HP:0000707",
+ "UPHENO:0002525",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0002267",
+ "UBERON:0000467",
+ "UPHENO:0002269",
+ "UPHENO:0001001",
+ "HP:0012759",
+ "UPHENO:0002536",
+ "HP:0012758",
+ "UPHENO:0002568",
+ "HP:0012638",
+ "UBERON:0001016",
+ "UPHENO:0082875",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0000118",
+ "UPHENO:0002385",
+ "UBERON:0001062",
+ "UBERON:0000061",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "BFO:0000004",
"BFO:0000001",
- "MONDO:0019950",
- "MONDO:0700223",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0002320",
- "BFO:0000017",
- "MONDO:0003847",
- "MONDO:0000001"
+ "HP:0001263",
+ "UPHENO:0002963",
+ "UPHENO:0001003"
],
- "object_label": "congenital muscular dystrophy",
+ "object_label": "Global developmental delay",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "congenital nervous system disorder",
- "realizable entity",
+ "anatomical entity physiology phenotype",
+ "material anatomical entity phenotype",
+ "nervous system phenotype",
+ "phenotype",
+ "Phenotypic abnormality",
+ "multicellular organism phenotype",
+ "material anatomical entity",
+ "independent continuant",
+ "material entity",
+ "anatomical system physiology phenotype",
+ "Global developmental delay",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure physiology phenotype",
+ "anatomical entity",
+ "anatomical structure",
+ "phenotypic effect",
+ "Abnormal nervous system physiology",
+ "anatomical system",
+ "nervous system physiology phenotype",
+ "taxon specific phenotype",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "anatomical structure phenotype",
+ "All",
+ "Neurodevelopmental abnormality",
+ "Abnormality of the nervous system",
+ "anatomical entity phenotype",
+ "Neurodevelopmental delay",
+ "material anatomical entity physiology phenotype",
"entity",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease",
- "disposition",
- "congenital muscular dystrophy"
+ "multicellular anatomical structure",
+ "multicellular organism",
+ "nervous system"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mondo",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:phenio"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "not_provided",
- "agent_type": "not_provided",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MONDO:1040033||biolink:subclass_of|MONDO:0019950",
- "provided_by": "phenio_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0001263",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "phenio",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040282",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -2956,9 +3536,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Frequent",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -2968,112 +3548,300 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
+ ],
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
+ "disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
+ ],
"species_context_qualifier": null,
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
},
{
- "id": "191417f1-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:3817493",
- "original_subject": null,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b6938-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": null,
- "subject_label": "Tg(ACTA1-FRG1)medRotu/0 [background:] C57BL/6-Tg(ACTA1-FRG1)medRotu",
+ "subject_label": "GMPPB",
"subject_closure_label": null,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0007360",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UBERON:0000465",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002530",
+ "UPHENO:0003936",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0010000",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0001001",
+ "UPHENO:0080079",
+ "UPHENO:0003952",
+ "UPHENO:0076720",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002037",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "HP:0002977",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "UBERON:0001062",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "HP:0007360",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "NCBITaxon:1",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
- "MONDO:0000001"
- ],
- "object_label": "facioscapulohumeral muscular dystrophy",
- "object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
+ "BFO:0000004",
+ "UPHENO:0002548",
+ "HP:0001317",
+ "UPHENO:0075948",
+ "BFO:0000001",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "UPHENO:0003459",
+ "UPHENO:0002765",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UPHENO:0080089",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733",
+ "UBERON:0001017"
+ ],
+ "object_label": "Aplasia/Hypoplasia of the cerebellum",
+ "object_closure_label": [
+ "material anatomical entity phenotype",
+ "cerebellum phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "ectoderm-derived structure phenotype",
+ "Abnormal cerebellum morphology",
+ "metencephalon phenotype",
+ "multicellular organism phenotype",
+ "Abnormal nervous system morphology",
+ "aplasia or hypoplasia of cerebellum",
+ "anatomical structure",
+ "independent continuant",
+ "material entity",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "organ subunit phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "organ part phenotype",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "cerebellum",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "material anatomical entity",
+ "Opisthokonta",
+ "anatomical entity phenotype",
"continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "central nervous system",
+ "All",
+ "Abnormality of the nervous system",
"entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease"
+ "nervous system",
+ "Eumetazoa"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:agrkb"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MGI:3817493||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007360",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -3085,9 +3853,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -3097,106 +3865,264 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
+ "disease_context_qualifier": "MONDO:0018939",
+ "disease_context_qualifier_label": "muscle-eye-brain disease",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0018939",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0020120",
+ "MONDO:0019056"
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "muscle-eye-brain disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "myopathy",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "nervous system disorder",
+ "human disease"
+ ],
"species_context_qualifier": null,
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
},
{
- "id": "19141853-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5529018",
- "original_subject": null,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b6939-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": null,
- "subject_label": "Dmdmdx-4Cv/Dmdmdx-4Cv Terctm1Rdp/Terctm1Rdp [background:] B6.Cg-Terctm1Rdp Dmdmdx-4Cv",
+ "subject_label": "GMPPB",
"subject_closure_label": null,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0007361",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "UBERON:0000061",
+ "NCBITaxon:33208",
+ "HP:0011282",
+ "UPHENO:0076791",
+ "UPHENO:0081601",
+ "UPHENO:0076808",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000955",
+ "HP:0000001",
+ "UPHENO:0002536",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UPHENO:0003952",
+ "UPHENO:0076805",
+ "UPHENO:0002530",
+ "UPHENO:0002568",
+ "UPHENO:0002525",
+ "NCBITaxon:33154",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0000063",
+ "UBERON:0001895",
+ "UBERON:0002298",
+ "UBERON:0000988",
+ "UBERON:0002028",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "BFO:0000040",
+ "HP:0002363",
+ "UPHENO:0002736",
+ "UPHENO:0003460",
+ "HP:0000118",
+ "HP:0002011",
+ "UPHENO:0081582",
+ "UPHENO:0002963",
+ "UPHENO:0086932",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002531",
+ "UPHENO:0002949",
+ "HP:0012443",
+ "HP:0011283",
+ "UBERON:0000468",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UBERON:0004732",
+ "UPHENO:0004523",
+ "UPHENO:0003063",
+ "NCBITaxon:1",
+ "UBERON:0001062",
+ "UPHENO:0075948",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679"
+ "UBERON:0000062",
+ "UPHENO:0003459",
+ "HP:0007361",
+ "UPHENO:0002765",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "HP:0012639",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0004733"
],
- "object_label": "Duchenne muscular dystrophy",
+ "object_label": "Abnormal pons morphology",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "hindbrain phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "pons morphology phenotype",
+ "metencephalon phenotype",
+ "Abnormal nervous system morphology",
+ "material anatomical entity",
+ "phenotype",
+ "material anatomical entity phenotype",
+ "material entity",
+ "Abnormal brainstem morphology",
+ "brain morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "Abnormal metencephalon morphology",
+ "multicellular anatomical structure phenotype",
+ "hindbrain morphology phenotype",
+ "Eukaryota",
+ "anatomical structure",
+ "regional part of nervous system phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "Abnormal pons morphology",
+ "organ subunit phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
+ "central nervous system",
+ "regional part of brain",
+ "brain",
+ "segmental subdivision of nervous system phenotype",
+ "organ part phenotype",
+ "multicellular organism phenotype",
+ "independent continuant",
+ "multicellular organism",
+ "organ system subdivision",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "organ subunit",
+ "metencephalon",
+ "brainstem",
+ "pons",
+ "hindbrain",
+ "segmental subdivision of nervous system",
+ "Abnormal hindbrain morphology",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "metencephalon morphology phenotype",
+ "multi-tissue structure phenotype",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
- "myopathy",
- "human disease",
- "hereditary disease",
- "entity"
+ "Opisthokonta",
+ "anatomical entity phenotype",
+ "pons phenotype",
+ "multi-tissue structure",
+ "organ part",
+ "segmental subdivision of hindbrain",
+ "All",
+ "brainstem morphology phenotype",
+ "Abnormality of the nervous system",
+ "entity",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:agrkb"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MGI:5529018||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007361",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -3208,9 +4134,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -3220,106 +4146,278 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
+ ],
"species_context_qualifier": null,
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
},
{
- "id": "1914187f-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:6438177",
- "original_subject": null,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b693a-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": null,
- "subject_label": "Dmdem4Eno/Dmdem4Eno [background:] C57BL/6-Dmdem4Eno",
+ "subject_label": "GMPPB",
"subject_closure_label": null,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0010679",
- "original_object": "DOID:11723",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0007340",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0005336",
+ "UPHENO:0080575",
+ "HP:0009127",
+ "UPHENO:0081581",
+ "UPHENO:0003081",
+ "UBERON:0000468",
+ "UBERON:0001630",
+ "UBERON:0001015",
+ "UPHENO:0003047",
+ "HP:0001324",
+ "UPHENO:0080556",
+ "UPHENO:0003432",
+ "UPHENO:0076692",
+ "UBERON:0000465",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
+ "UBERON:0010709",
+ "UBERON:0014892",
+ "HP:0000001",
+ "HP:0003690",
+ "HP:0003011",
+ "UPHENO:0002530",
+ "UPHENO:0076710",
+ "UPHENO:0002267",
+ "UPHENO:0002926",
+ "UPHENO:0002525",
+ "UBERON:0000467",
+ "UBERON:0000026",
+ "UBERON:0000383",
+ "UPHENO:0002861",
+ "UPHENO:0003045",
+ "UPHENO:0002897",
+ "UPHENO:0002536",
+ "UPHENO:0002568",
+ "UPHENO:0002647",
+ "UPHENO:0002830",
+ "UBERON:0010707",
+ "UBERON:0004480",
+ "HP:0007340",
+ "UPHENO:0082875",
+ "HP:0033127",
+ "UPHENO:0002976",
+ "UBERON:0000061",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UPHENO:0002731",
+ "HP:0000118",
+ "UPHENO:0002816",
+ "UPHENO:0002385",
+ "UBERON:0015212",
+ "RO:0002577",
+ "UPHENO:0002949",
+ "UPHENO:0002386",
+ "HP:0011804",
+ "UBERON:0011216",
+ "UBERON:0000475",
+ "UBERON:0010890",
+ "UPHENO:0002320",
+ "UPHENO:0002526",
+ "UPHENO:0002308",
+ "UBERON:0001062",
+ "BFO:0000004",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0001002",
+ "UPHENO:0002945",
+ "UPHENO:0003022",
+ "HP:0040064",
+ "UBERON:0018254",
+ "UBERON:0005090",
+ "UBERON:0000062",
+ "UBERON:0004708",
+ "UPHENO:0002847",
+ "HP:0011805",
+ "UPHENO:0080555",
+ "UPHENO:0002359",
+ "UPHENO:0002963",
+ "UPHENO:0001003",
"BFO:0000001",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
- "BFO:0000020",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0003847",
- "MONDO:0000001",
- "MONDO:0010679"
+ "UBERON:0007271",
+ "UBERON:0014792"
],
- "object_label": "Duchenne muscular dystrophy",
+ "object_label": "Lower limb muscle weakness",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "specifically dependent continuant",
+ "Lower limb muscle weakness",
+ "anatomical entity physiology phenotype",
+ "muscle structure phenotype",
+ "musculature phenotype",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "organ",
+ "limb",
+ "appendage phenotype",
+ "lateral structure phenotype",
+ "Phenotypic abnormality",
+ "Abnormal muscle physiology",
+ "anatomical structure",
+ "skeletal muscle organ, vertebrate",
+ "Abnormality of the musculoskeletal system",
+ "independent continuant",
+ "material entity",
+ "appendage musculature",
+ "musculature of pelvic complex",
+ "Abnormality of the musculature of the limbs",
+ "paired limb/fin phenotype",
+ "muscle structure physiology phenotype",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "multicellular anatomical structure phenotype",
+ "musculature of limb phenotype",
+ "anatomical structure physiology phenotype",
+ "skeletal musculature",
+ "muscle structure",
+ "decreased anatomical entity strength",
+ "organ system subdivision phenotype",
+ "entity",
+ "pelvic complex",
+ "musculature of limb",
+ "decreased pelvic complex muscle strength",
+ "Abnormal skeletal muscle morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limbs",
+ "multicellular anatomical structure",
+ "organ system subdivision",
+ "organism subdivision",
+ "musculature",
+ "muscle organ physiology phenotype",
+ "multicellular organism morphology phenotype",
+ "skeletal musculature phenotype",
+ "limb phenotype",
+ "anatomical system",
+ "muscle organ",
+ "pelvic complex muscle",
+ "Muscle weakness",
+ "muscle organ phenotype",
+ "taxon specific phenotype",
+ "musculature of body phenotype",
+ "anatomical entity morphology phenotype",
+ "anatomical entity",
+ "material anatomical entity",
"continuant",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
- "disposition",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "disease",
- "Duchenne muscular dystrophy",
- "myopathy",
- "human disease",
- "hereditary disease",
- "entity"
+ "appendage girdle complex",
+ "appendage",
+ "musculature of body",
+ "paired limb/fin",
+ "phenotype",
+ "musculature of pelvic complex phenotype",
+ "phenotypic effect",
+ "system",
+ "All",
+ "organ phenotype",
+ "Limb muscle weakness",
+ "appendage musculature phenotype",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormality of the musculature",
+ "decreased muscle organ strength",
+ "anatomical entity phenotype",
+ "muscle organ morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "organism subdivision phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multicellular organism"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:agrkb"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MGI:6438177||biolink:model_of|MONDO:0010679",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0007340",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -3331,9 +4429,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -3343,112 +4441,348 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
+ "disease_context_qualifier": "MONDO:0014142",
+ "disease_context_qualifier_label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0000173",
+ "MONDO:0014142",
+ "MONDO:0016139",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0016155",
+ "MONDO:0700084",
+ "MONDO:0018282",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0016971",
+ "MONDO:0017741",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0000429",
+ "MONDO:0018276",
+ "MONDO:0006025",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0045010",
+ "MONDO:0016106",
+ "MONDO:0015152"
+ ],
+ "disease_context_qualifier_closure_label": [
+ "myopathy caused by variation in GMPPB",
+ "qualitative or quantitative defects of alpha-dystroglycan",
+ "disease",
+ "autosomal recessive limb-girdle muscular dystrophy type 2T",
+ "muscular dystrophy-dystroglycanopathy, type C",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "autosomal recessive limb-girdle muscular dystrophy",
+ "autosomal recessive disease",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "progressive muscular dystrophy",
+ "metabolic disease",
+ "autosomal genetic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "limb-girdle muscular dystrophy",
+ "disorder of protein O-glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "glycoprotein metabolism disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "qualitative or quantitative protein defects in neuromuscular diseases",
+ "human disease"
+ ],
"species_context_qualifier": null,
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
},
{
- "id": "1914188e-9985-11ef-8c9d-dda7116ce6ff",
- "category": "biolink:GenotypeToDiseaseAssociation",
- "subject": "MGI:5524138",
- "original_subject": null,
- "subject_namespace": "MGI",
- "subject_category": "biolink:Genotype",
+ "id": "uuid:b35b693c-8b41-11ef-b621-6045bdbae67e",
+ "category": "biolink:GeneToPhenotypicFeatureAssociation",
+ "subject": "HGNC:22932",
+ "original_subject": "NCBIGene:29925",
+ "subject_namespace": "HGNC",
+ "subject_category": "biolink:Gene",
"subject_closure": null,
- "subject_label": "Fat1tm1.2Fhel/Fat1tm1.2Fhel Tg(Myl1-lacZ)1Ibdml/0 [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL",
+ "subject_label": "GMPPB",
"subject_closure_label": null,
- "subject_taxon": "NCBITaxon:10090",
- "subject_taxon_label": "Mus musculus",
- "predicate": "biolink:model_of",
- "object": "MONDO:0001347",
- "original_object": "DOID:11727",
- "object_namespace": "MONDO",
- "object_category": "biolink:Disease",
+ "subject_taxon": "NCBITaxon:9606",
+ "subject_taxon_label": "Homo sapiens",
+ "predicate": "biolink:has_phenotype",
+ "original_predicate": null,
+ "object": "HP:0002518",
+ "original_object": null,
+ "object_namespace": "HP",
+ "object_category": "biolink:PhenotypicFeature",
"object_closure": [
- "MONDO:0016106",
- "MONDO:0005336",
+ "UPHENO:0002902",
+ "HP:0010993",
+ "UPHENO:0002874",
+ "UPHENO:0002834",
+ "UPHENO:0081581",
+ "UPHENO:0076702",
+ "NCBITaxon:2759",
+ "NCBITaxon:33208",
+ "UPHENO:0087531",
+ "UPHENO:0076791",
+ "UPHENO:0087518",
+ "UPHENO:0081562",
+ "UPHENO:0074038",
+ "HP:0000707",
+ "UPHENO:0004802",
+ "UPHENO:0076692",
+ "UPHENO:0074051",
"BFO:0000002",
- "MONDO:0020120",
- "MONDO:0019056",
- "MONDO:0100137",
- "MONDO:0100546",
- "OGMS:0000031",
- "MONDO:0700096",
- "MONDO:0003939",
- "MONDO:0005071",
- "BFO:0000017",
+ "UBERON:0001017",
+ "UBERON:0002616",
+ "UBERON:0000454",
+ "UBERON:0000955",
+ "UBERON:0002316",
+ "UBERON:0003544",
+ "HP:0000001",
+ "HP:0002060",
+ "UPHENO:0073898",
+ "UPHENO:0002530",
+ "UPHENO:0002536",
+ "UPHENO:0073978",
+ "UPHENO:0002570",
+ "UPHENO:0002525",
+ "NCBITaxon:131567",
+ "UBERON:0004121",
+ "UBERON:0000467",
+ "UBERON:0002437",
+ "UPHENO:0074028",
+ "UPHENO:0002538",
+ "UPHENO:0076805",
+ "UPHENO:0002568",
+ "NCBITaxon:33154",
+ "UBERON:0001869",
+ "UBERON:0011215",
+ "UBERON:0001016",
+ "UBERON:0000073",
+ "UBERON:0001893",
+ "UBERON:0001890",
+ "UBERON:0019261",
+ "UPHENO:0002526",
+ "UPHENO:0004521",
+ "UPHENO:0002976",
+ "UBERON:0000465",
+ "UBERON:0000061",
+ "UPHENO:0002736",
+ "HP:0000118",
+ "HP:0002011",
+ "HP:0002500",
+ "UPHENO:0089366",
+ "UPHENO:0002963",
+ "UPHENO:0003030",
+ "UPHENO:0002841",
+ "UBERON:0001062",
+ "UBERON:0015212",
+ "UBERON:0005162",
+ "UBERON:0010000",
+ "UPHENO:0001002",
+ "HP:0002518",
+ "UPHENO:0073911",
+ "HP:0100547",
+ "UPHENO:0074054",
+ "UPHENO:0073937",
+ "UPHENO:0002531",
+ "HP:0012443",
+ "UBERON:0011216",
+ "NCBITaxon:6072",
+ "UPHENO:0074036",
+ "UPHENO:0002949",
+ "UPHENO:0004523",
+ "UPHENO:0002873",
+ "NCBITaxon:1",
+ "BFO:0000004",
+ "UPHENO:0001001",
+ "UPHENO:0003001",
+ "UPHENO:0087902",
+ "UPHENO:0076799",
+ "UBERON:0000062",
+ "UBERON:0000468",
+ "HP:0002352",
+ "UPHENO:0073886",
+ "UPHENO:0074037",
+ "UPHENO:0002731",
+ "UPHENO:0002548",
+ "UPHENO:0003004",
+ "UPHENO:0001003",
+ "UPHENO:0081435",
+ "HP:0012639",
+ "UPHENO:0004621",
"BFO:0000001",
- "BFO:0000016",
- "MONDO:0700223",
- "MONDO:0001347",
- "BFO:0000020",
- "MONDO:0020121",
- "MONDO:0100545",
- "MONDO:0002081",
- "MONDO:0019303",
- "MONDO:0003847",
- "MONDO:0000001"
+ "BFO:0000040",
+ "UBERON:0000481",
+ "UBERON:0000064",
+ "UBERON:0011299"
],
- "object_label": "facioscapulohumeral muscular dystrophy",
+ "object_label": "Abnormal periventricular white matter morphology",
"object_closure_label": [
- "skeletal muscle disorder",
- "neuromuscular disease",
- "disease",
- "muscle tissue disorder",
- "nervous system disorder",
- "realizable entity",
- "continuant",
- "telomere syndrome",
- "hereditary neuromuscular disease",
- "hereditary neurological disease",
- "musculoskeletal system disorder",
+ "cerebral hemisphere morphology phenotype",
+ "anatomical entity degeneration in central nervous system",
+ "material anatomical entity phenotype",
+ "brain phenotype",
+ "nervous system phenotype",
+ "nervous system morphology phenotype",
+ "cellular organisms",
+ "organ",
+ "multicellular organism",
+ "multi cell part structure degeneration",
+ "central nervous system cell part cluster phenotype",
+ "Phenotypic abnormality",
+ "Morphological central nervous system abnormality",
+ "Abnormal cerebral white matter morphology",
+ "multicellular organism phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "Abnormal nervous system morphology",
+ "forebrain phenotype",
+ "material anatomical entity",
+ "anatomical structure",
+ "white matter of telencephalon",
+ "cerebral hemisphere white matter phenotype",
+ "white matter of telencephalon phenotype",
+ "independent continuant",
+ "brain morphology phenotype",
+ "telencephalon morphology phenotype",
+ "regional part of brain phenotype",
+ "Abnormal brain morphology",
+ "multicellular anatomical structure phenotype",
+ "brain white matter phenotype",
+ "anatomical entity",
+ "Eukaryota",
+ "regional part of nervous system phenotype",
+ "cerebral hemisphere white matter degeneration",
+ "lateral structure phenotype",
+ "ectoderm-derived structure phenotype",
+ "anatomical system phenotype",
+ "central nervous system phenotype",
+ "organ system subdivision phenotype",
"entity",
- "disposition",
- "progressive muscular dystrophy",
- "muscular dystrophy",
- "hereditary skeletal muscle disorder",
- "facioscapulohumeral muscular dystrophy",
- "disease",
- "premature aging syndrome",
- "myopathy",
- "specifically dependent continuant",
- "human disease",
- "hereditary disease"
+ "central nervous system",
+ "regional part of brain",
+ "cerebral subcortex",
+ "brain",
+ "white matter",
+ "white matter of forebrain",
+ "telencephalon phenotype",
+ "brain white matter morphology phenotype",
+ "material anatomical entity degeneration",
+ "anatomical entity degeneration",
+ "organ part phenotype",
+ "organ system subdivision",
+ "brain white matter",
+ "cerebral hemisphere white matter",
+ "phenotypic effect",
+ "white matter degeneration",
+ "Abnormal periventricular white matter morphology",
+ "ectoderm-derived structure degeneration",
+ "Abnormal forebrain morphology",
+ "brain white matter degeneration",
+ "multicellular organism morphology phenotype",
+ "white matter of forebrain phenotype",
+ "ectoderm-derived structure",
+ "anatomical system",
+ "Metazoa",
+ "regional part of nervous system",
+ "telencephalon",
+ "forebrain",
+ "organ phenotype",
+ "central nervous system morphology phenotype",
+ "forebrain morphology phenotype",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral subcortex morphology",
+ "taxon specific phenotype",
+ "anatomical entity morphology phenotype",
+ "root",
+ "continuant",
+ "Opisthokonta",
+ "cerebral hemisphere",
+ "central nervous system cell part cluster",
+ "phenotype",
+ "Leukoencephalopathy",
+ "anatomical entity phenotype",
+ "anatomical structure degeneration",
+ "white matter phenotype",
+ "white matter of telencephalon degeneration",
+ "material entity",
+ "multi-tissue structure",
+ "organ part",
+ "All",
+ "Abnormal cerebral morphology",
+ "central nervous system cell part cluster degeneration",
+ "cerebral hemisphere white matter morphology phenotype",
+ "white matter of forebrain degeneration",
+ "Abnormality of the nervous system",
+ "multi cell part structure phenotype",
+ "anatomical structure phenotype",
+ "lateral structure",
+ "multi cell part structure",
+ "multicellular anatomical structure",
+ "nervous system",
+ "Eumetazoa"
],
"object_taxon": null,
"object_taxon_label": null,
- "primary_knowledge_source": "infores:mgi",
- "aggregator_knowledge_source": [
- "infores:monarchinitiative",
- "infores:agrkb"
- ],
+ "primary_knowledge_source": "infores:hpo-annotations",
+ "aggregator_knowledge_source": ["infores:monarchinitiative"],
"negated": null,
"pathway": null,
"evidence_count": 0,
- "knowledge_level": "knowledge_assertion",
- "agent_type": "manual_agent",
+ "knowledge_level": "logical_entailment",
+ "agent_type": "automated_agent",
"has_evidence": null,
"has_evidence_links": [],
"has_count": null,
"has_total": null,
"has_percentage": null,
"has_quotient": null,
- "grouping_key": "MGI:5524138||biolink:model_of|MONDO:0001347",
- "provided_by": "alliance_disease_edges",
+ "grouping_key": "HGNC:22932||biolink:has_phenotype|HP:0002518",
+ "provided_by": "hpoa_gene_to_phenotype_edges",
"provided_by_link": {
- "id": "alliance_disease",
- "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease"
+ "id": "hpoa_gene_to_phenotype",
+ "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_phenotype"
},
"publications": null,
"publications_links": [],
- "frequency_qualifier": null,
+ "frequency_qualifier": "HP:0040283",
"onset_qualifier": null,
"sex_qualifier": null,
"stage_qualifier": null,
@@ -3460,9 +4794,9 @@
"qualifier_label": null,
"qualifier_namespace": null,
"qualifier_category": null,
- "frequency_qualifier_label": null,
- "frequency_qualifier_namespace": null,
- "frequency_qualifier_category": null,
+ "frequency_qualifier_label": "Occasional",
+ "frequency_qualifier_namespace": "HP",
+ "frequency_qualifier_category": "biolink:PhenotypicFeature",
"onset_qualifier_label": null,
"onset_qualifier_namespace": null,
"onset_qualifier_category": null,
@@ -3472,16 +4806,72 @@
"stage_qualifier_label": null,
"stage_qualifier_namespace": null,
"stage_qualifier_category": null,
- "disease_context_qualifier": null,
- "disease_context_qualifier_label": null,
- "disease_context_qualifier_namespace": null,
- "disease_context_qualifier_category": null,
- "disease_context_qualifier_closure": null,
- "disease_context_qualifier_closure_label": null,
+ "disease_context_qualifier": "MONDO:0018278",
+ "disease_context_qualifier_label": "congenital muscular dystrophy with intellectual disability",
+ "disease_context_qualifier_namespace": "MONDO",
+ "disease_context_qualifier_category": "biolink:Disease",
+ "disease_context_qualifier_closure": [
+ "MONDO:0100545",
+ "MONDO:0700096",
+ "MONDO:0700223",
+ "MONDO:0003939",
+ "MONDO:0000001",
+ "MONDO:0002081",
+ "MONDO:0005066",
+ "MONDO:0020121",
+ "MONDO:0003847",
+ "MONDO:0019950",
+ "MONDO:0024322",
+ "MONDO:0100546",
+ "MONDO:0005336",
+ "MONDO:0005071",
+ "MONDO:0002320",
+ "MONDO:0019052",
+ "MONDO:0018276",
+ "MONDO:0020120",
+ "MONDO:0019056",
+ "MONDO:0015286",
+ "MONDO:0018278"
+ ],
+ "disease_context_qualifier_closure_label": [
+ "disease",
+ "hereditary skeletal muscle disorder",
+ "musculoskeletal system disorder",
+ "congenital muscular dystrophy with intellectual disability",
+ "muscle tissue disorder",
+ "congenital muscular dystrophy",
+ "muscular dystrophy",
+ "metabolic disease",
+ "muscular dystrophy-dystroglycanopathy",
+ "myopathy",
+ "congenital disorder of glycosylation",
+ "disorder of glycosylation",
+ "hereditary neuromuscular disease",
+ "hereditary neurological disease",
+ "hereditary disease",
+ "skeletal muscle disorder",
+ "neuromuscular disease",
+ "congenital nervous system disorder",
+ "inborn errors of metabolism",
+ "nervous system disorder",
+ "human disease"
+ ],
"species_context_qualifier": null,
"species_context_qualifier_label": null,
"species_context_qualifier_namespace": null,
- "species_context_qualifier_category": null
+ "species_context_qualifier_category": null,
+ "subject_specialization_qualifier": null,
+ "subject_specialization_qualifier_label": null,
+ "subject_specialization_qualifier_namespace": null,
+ "subject_specialization_qualifier_category": null,
+ "subject_specialization_qualifier_closure": null,
+ "subject_specialization_qualifier_closure_label": null,
+ "object_specialization_qualifier": null,
+ "object_specialization_qualifier_label": null,
+ "object_specialization_qualifier_namespace": null,
+ "object_specialization_qualifier_category": null,
+ "object_specialization_qualifier_closure": null,
+ "object_specialization_qualifier_closure_label": null
}
],
"facet_fields": [],
diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json
index 51f41fc53..a838ea6a0 100644
--- a/frontend/fixtures/autocomplete.json
+++ b/frontend/fixtures/autocomplete.json
@@ -1,7 +1,7 @@
{
"limit": 10,
"offset": 0,
- "total": 328,
+ "total": 335,
"items": [
{
"id": "MONDO:0009215",
@@ -72,13 +72,13 @@
"HP:0012210",
"HP:0000081",
"HP:0000085",
- "HP:0003251",
"HP:0000086",
"HP:0004322",
"HP:0000486",
"HP:0000365",
"HP:0003214",
- "HP:0003213"
+ "HP:0003213",
+ "HP:0003251"
],
"has_phenotype_label": [
"Neutropenia",
@@ -108,1948 +108,1923 @@
"Abnormal renal morphology",
"Duplicated collecting system",
"Horseshoe kidney",
- "Male infertility",
"Ectopic kidney",
"Short stature",
"Strabismus",
"Hearing impairment",
"Prolonged G2 phase of cell cycle",
- "Deficient excision of UV-induced pyrimidine dimers in DNA"
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Male infertility"
],
"has_phenotype_closure": [
- "GO:0033554",
- "UPHENO:0049990",
+ "HP:0000144",
+ "HP:0000789",
"UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
"UPHENO:0049720",
+ "UPHENO:0049588",
"GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
"HP:0011018",
- "GO:0022403",
"GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
"UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
+ "UPHENO:0049671",
"UPHENO:0002240",
+ "HP:0000598",
+ "UPHENO:0052970",
"UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
+ "HP:0000364",
+ "UPHENO:0052161",
"HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
"UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
"UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
"HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
"UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
"HP:0000086",
- "HP:0000789",
- "HP:0012041",
+ "HP:0100542",
"UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
+ "HP:0000085",
"HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
"HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
+ "UPHENO:0002386",
"UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
"UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
"UPHENO:0066902",
- "UPHENO:0053612",
- "HP:0100542",
- "UPHENO:0002323",
+ "UPHENO:0002381",
"UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
"UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0080662",
- "HP:0001903",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0000953",
"HP:0002597",
"UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0011818",
+ "HP:0011354",
"UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004507",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
"UPHENO:0004827",
- "MPATH:603",
+ "UPHENO:0002634",
+ "UBERON:0004535",
+ "UBERON:0000948",
+ "UPHENO:9002003",
"UPHENO:0003086",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
"HP:0004377",
- "MPATH:119",
- "UBERON:0000948",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0009142",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
"UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
"UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
+ "HP:0012759",
+ "UPHENO:0080079",
"UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "GO:0050877",
- "HP:0001249",
- "UPHENO:0002433",
- "HP:0012638",
"UPHENO:0002267",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
+ "CL:0000558",
+ "HP:0000152",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
"UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002269",
"UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
"UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "UBERON:0000479",
+ "HP:0002011",
+ "UPHENO:0075220",
"UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "HP:0003251",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UBERON:0012141",
"UBERON:0001890",
- "UPHENO:0050008",
- "UPHENO:0053610",
- "GO:0048523",
+ "UBERON:0001893",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
"UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
"UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
+ "UPHENO:0049775",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
"UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
"UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "HP:0003251",
- "GO:0008150",
- "UPHENO:0002378",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
"UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
"HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
"UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
"UPHENO:0004757",
- "UPHENO:0080352",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
"UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
"UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
+ "UPHENO:0046741",
"UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UPHENO:0025545",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UPHENO:0025135",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:0011533",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "UPHENO:0025546",
- "UPHENO:0025509",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UBERON:0008785",
- "GO:0006139",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "HP:0002011",
- "UPHENO:0011492",
- "UPHENO:0025808",
- "HP:0006503",
- "UPHENO:0002782",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0001003",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
"UPHENO:0026239",
- "UPHENO:0003055",
- "UBERON:0002113",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0002642",
- "UBERON:0005451",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0076703",
"UBERON:0001444",
- "UBERON:0005177",
- "HP:0001911",
- "UPHENO:0027017",
- "UBERON:0002204",
- "UBERON:0000465",
- "HP:0009115",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "UPHENO:0008593",
- "UBERON:0012475",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UPHENO:0026486",
- "UPHENO:0026600",
- "UBERON:0005173",
- "UBERON:0004381",
- "UBERON:0013701",
- "UBERON:0015061",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0027014",
- "UPHENO:0074575",
- "HP:0011842",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0087427",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UBERON:0011143",
- "UPHENO:0009011",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "HP:0003953",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "UPHENO:0025187",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
"HP:0001155",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025661",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0001001",
- "UPHENO:0026507",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UPHENO:0008827",
- "UBERON:0010740",
- "UPHENO:0002750",
- "CL:0000457",
- "UPHENO:0008825",
- "UBERON:5102544",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UPHENO:0002378",
"UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UBERON:0012354",
+ "UPHENO:0026600",
"UPHENO:0026010",
- "UBERON:0010708",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UBERON:0015212",
- "HP:0000078",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "UBERON:0002097",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002926",
- "UPHENO:0009163",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
"HP:0000980",
- "UPHENO:0026309",
- "UPHENO:0026146",
- "UPHENO:0026504",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "HP:0001875",
- "UBERON:0001423",
- "UBERON:0011216",
- "UBERON:0003466",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0026095",
- "HP:0000104",
- "UBERON:0007272",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UPHENO:0009341",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0085302",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
"CL:0000329",
- "HP:0000001",
- "UBERON:0002193",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UBERON:0001434",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0011572",
- "CL:0000255",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0077391",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "UPHENO:0079876",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "HP:0025354",
+ "UPHENO:0012312",
"HP:0011844",
- "UPHENO:0009356",
- "HP:0020047",
- "UBERON:0000467",
- "UBERON:0007100",
- "UBERON:0000468",
- "GO:0050954",
- "UPHENO:0002816",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UBERON:0010741",
- "UPHENO:0025508",
- "HP:0000144",
- "UPHENO:3000004",
- "HP:0009601",
- "GO:0043170",
- "CL:0000219",
- "HP:0000815",
- "UPHENO:0063794",
- "UPHENO:0077399",
- "HP:0000028",
- "UBERON:0005172",
- "UBERON:0015203",
- "UBERON:0000475",
- "HP:0001627",
- "UBERON:0002371",
- "UPHENO:0011498",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002403",
- "UBERON:0003135",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0003094",
- "UBERON:0010000",
- "UPHENO:0002803",
- "UBERON:0001474",
- "CL:0000232",
- "UBERON:0002075",
- "UPHENO:0002738",
- "HP:0100887",
- "CL:0002242",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UBERON:5002389",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0086700",
- "UPHENO:0009366",
- "UBERON:0002389",
- "UPHENO:0002536",
- "UPHENO:0025211",
- "UPHENO:0025811",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0086019",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0012308",
- "CL:0000988",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0000015",
- "CL:0000094",
- "HP:0003213",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0009382",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "GO:0040007",
- "BFO:0000001",
- "UPHENO:0077348",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0031049",
- "HP:0009822",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UPHENO:0026980",
- "UBERON:0015204",
- "UBERON:0000061",
- "UPHENO:0081511",
- "PATO:0000001",
- "HP:0000978",
- "UPHENO:0008865",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0086176",
- "HP:0001874",
- "UPHENO:0076805",
- "UPHENO:0025883",
- "CL:0000775",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0002948",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "HP:0001896",
- "HP:0009823",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0077418",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0026308",
- "UBERON:0000479",
- "HP:0011314",
- "HP:0004323",
- "HP:0032251",
- "HP:0001017",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0002568",
- "UPHENO:0053601",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
"UBERON:0002398",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UBERON:0002513",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
"UBERON:0001015",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0000924",
- "UPHENO:0009344",
- "HP:0033127",
- "HP:0000240",
- "UPHENO:0005058",
- "UBERON:0004176",
- "HP:0000951",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
"UPHENO:0005025",
- "UPHENO:0086016",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0004064",
- "UBERON:0000062",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
"HP:0000035",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0088162",
- "UPHENO:0008545",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0015024",
- "UPHENO:0053559",
- "HP:0001871",
+ "HP:0007364",
+ "HP:0009380",
+ "UBERON:0000061",
"HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "UPHENO:0052231",
+ "CL:0000233",
+ "UBERON:0000075",
+ "CL:0001035",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UBERON:0002199",
+ "UBERON:0001423",
+ "UPHENO:0049757",
"CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0088170",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0010935",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "UPHENO:0002526",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
+ "HP:0005561",
+ "UBERON:0001062",
+ "UPHENO:0002685",
"UBERON:0004765",
- "RO:0002577",
"UBERON:0010712",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "HP:0002817",
- "HP:0001872",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UBERON:0003101",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
+ "UPHENO:0003050",
+ "UBERON:0015001",
"UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0008604",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "UPHENO:0002751",
- "CL:0000233",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002945",
+ "UPHENO:0076799",
"UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
"UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "HP:0000118",
"UBERON:0002529",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
"UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
"UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0084448",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "HP:0011873",
- "UPHENO:0053572",
- "UPHENO:0008816",
- "CL:0000225",
- "UPHENO:0026808",
- "HP:0001876",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "GO:0003008",
- "HP:0025461",
- "UPHENO:0025855",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
"HP:0002818",
- "HP:0011875",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0086173",
- "UBERON:0000079",
- "HP:0001873",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
+ "RO:0002577",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "HP:0012041",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UBERON:0002113",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
"HP:0009778",
- "CL:0000151",
- "UPHENO:0053647",
- "UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002940",
- "UPHENO:0003056",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "UPHENO:0053580",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
"UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0002685",
- "HP:0000811",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0002523",
- "HP:0012243",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0041821",
- "HP:0000032",
- "UBERON:0019231",
- "UBERON:0006048",
+ "UPHENO:0002750",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UBERON:0010912",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "HP:0001903",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0000473",
+ "UPHENO:0079872",
"UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "UPHENO:0009129",
- "CL:0000763",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
+ "UPHENO:0004507",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
"UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0009391",
- "UBERON:0002417",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668"
- ],
- "has_phenotype_closure_label": [
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
+ "UBERON:0000481",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "MPATH:603",
+ "UPHENO:0025845",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0011582",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "HP:0000978",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0000543",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "HP:0009943",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
+ "HP:0032251",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "HP:0012210",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003811",
+ "UPHENO:0086176",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0080377",
+ "UPHENO:0085371",
+ "HP:0011893",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002632",
+ "UPHENO:0004064",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0003227",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0004710",
+ "UPHENO:0075944",
+ "HP:0001871",
+ "UPHENO:0025211",
+ "UPHENO:0077391",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0010708",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0063722",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0002526",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "CL:0000255",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0086633",
+ "UPHENO:0025585",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0009129",
+ "UPHENO:0011498",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "CL:0000094",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UBERON:0002193",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "UPHENO:0009163",
+ "HP:0009115",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "UBERON:0011216",
+ "MPATH:105",
+ "CL:0000988",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0010987",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0011531",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0026507",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0076692",
+ "UPHENO:0025497",
+ "UBERON:0000467",
+ "HP:0001881"
+ ],
+ "has_phenotype_closure_label": [
+ "Infertility",
+ "Decreased fertility in males",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
"decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
"Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
"Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
"decreased sensory perception",
- "cell cycle",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
"decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
"Abnormal eye physiology",
"structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
"Growth delay",
- "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
"decreased size of the multicellular organism",
- "localised abdomen element",
- "localised abdominal segment element",
+ "localised trunk region element",
"localised cavitated compound organ",
"localised lateral structure",
+ "Ectopic kidney",
"localised compound organ",
- "Male infertility",
- "Decreased fertility",
- "shape kidney",
- "Abnormal localization of kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
"U-shaped anatomical entity",
"3-D shape anatomical entity",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
+ "Abnormal localization of kidney",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
"decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
"Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
"Hypogonadism",
- "ear phenotype",
- "increased pigmentation",
- "glandular system",
+ "Localized skin lesion",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
"Cafe-au-lait spot",
"Hypermelanotic macule",
- "Hyperpigmentation of the skin",
- "increased qualitatively biological_process",
- "anatomical cluster",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Anemia",
+ "material anatomical entity",
+ "superficial fascia",
+ "Abnormality of the eye",
"pathological phenotype observation",
- "heart phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "circulatory organ phenotype",
- "cardiovascular system",
- "cardiovascular system phenotype",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "biological_process rate phenotype",
"primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
+ "heart",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "multicellular organism phenotype",
"Abnormal heart morphology",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
+ "biological_process phenotype",
"autopod bone",
- "manual digit 1 digitopodial skeleton",
+ "acropodial skeleton",
"manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
+ "Duplication of bones involving the upper extremities",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
"phalanx of manus",
- "phalanx",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "macromolecule metabolic process",
- "Intellectual disability",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Neurodevelopmental abnormality",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
"cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
+ "decreased functionality of the gonad",
"Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
"forebrain",
- "telencephalon",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
"Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
"central nervous system",
- "axial skeleton plus cranial skeleton",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
"postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
+ "cranial skeletal system",
"Abnormality of skin pigmentation",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
"negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
"negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "decreased qualitatively system process",
- "Abnormality of the nervous system",
- "biological regulation phenotype",
- "regulation of gene expression",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
"process",
+ "skin of body morphology phenotype",
"Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "growth phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
"decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
+ "anatomical structure physiology phenotype",
"orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
"craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
"Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
"absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent radius bone in the forelimb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "Short stature",
- "radius bone",
- "absent compound organ in the renal system",
- "blood cell",
- "Abnormality of the immune system",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "decreased biological_process",
- "Absent radius",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "material anatomical entity phenotype",
- "head morphology phenotype",
- "immune system phenotype",
- "cell",
- "nervous system phenotype",
- "limb phenotype",
- "absent bone of pectoral complex in the forelimb",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "absent bone of pectoral complex in the limb",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "trunk phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent kidney in the renal system",
- "Abnormal finger phalanx morphology",
- "decreased size of the anatomical entity in the pectoral complex",
- "myeloid leukocyte phenotype",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "absent abdomen element in the renal system",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
"subdivision of trunk phenotype",
- "abdominal segment element phenotype",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "lateral structure phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "face morphology phenotype",
- "subdivision of trunk",
- "absent forelimb long bone in the forelimb",
- "endocrine system phenotype",
- "reproductive system",
- "organism subdivision phenotype",
- "absent multicellular anatomical structure in the renal system",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "sensory perception of mechanical stimulus phenotype",
+ "reproductive organ phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
"digit 1",
- "upper limb segment phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "multicellular anatomical structure",
- "absent material anatomical entity in the renal system",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "Abnormality of the face",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
"decreased size of the manual digit",
- "continuant",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "heart",
- "limb bone phenotype",
- "renal system",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "absent bone element in the forelimb",
- "lateral structure",
- "absent lateral structure in the renal system",
- "organ phenotype",
- "skeleton",
- "regulation of macromolecule biosynthetic process",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
"Abnormal renal morphology",
- "genitourinary system phenotype",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
"negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "number of anatomical enitites of type kidney phenotype",
- "bone cell",
- "trunk region element phenotype",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "forelimb",
- "digit 1 or 5",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "number of anatomical enitites of type abdomen element phenotype",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "kidney",
- "reproductive organ phenotype",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "abdominal segment of trunk",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
"segment of manus",
- "number of leukocyte phenotype",
- "localised reproductive organ",
- "absent bone of free limb or fin",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "musculature of body phenotype",
- "skin of body morphology phenotype",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "anatomical structure",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "skin of body phenotype",
- "Decreased head circumference",
- "absent bone of free limb or fin in the limb",
- "material anatomical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "anatomical entity phenotype",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormal skeletal morphology",
- "skeletal element phenotype",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "anatomical collection",
- "organ",
- "decreased number of anatomical entity",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
"absent kidney",
- "forelimb morphology phenotype",
- "Abnormal granulocyte count",
- "long bone",
- "decreased number of leukocyte",
- "Ectopic kidney",
- "decreased number of granulocyte",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
"absent organism subdivision",
- "Anemic pallor",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "Abnormal reproductive system morphology",
+ "Abnormal cellular phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "localised multicellular anatomical structure",
+ "aplasia or hypoplasia of radius bone",
+ "vasculature phenotype",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cardiovascular system",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "Abnormality of the male genitalia",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
"erythrocyte",
- "Abnormal cell morphology",
- "absent lateral structure",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "multicellular organism",
- "absent bone of appendage girdle complex in the limb",
- "absent organ",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal limb bone morphology",
- "quality",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
+ "absent bone of pectoral complex in the limb",
"tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
"limb segment",
- "superficial fascia",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "enucleated reticulocyte morphology phenotype",
- "granulocyte",
- "nucleate cell",
- "bone marrow",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "Abnormal cellular immune system morphology",
- "autopodial extension phenotype",
- "myeloid leukocyte",
- "decreased number of material anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "Growth abnormality",
- "skeletal system phenotype",
- "regulation of biological process",
- "manual digit",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "vision/eye phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "material entity",
- "leukocyte",
- "Abnormal granulocyte morphology",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "hematopoietic cell",
- "absent forelimb zeugopod bone",
- "digit 1 digitopodial skeleton",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "cell phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "eukaryotic cell",
- "skull",
- "Abnormality of the hand",
- "Short thumb",
- "Abnormality of the genitourinary system",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Thrombocytopenia",
- "Short finger",
- "Abnormal nervous system physiology",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
"zeugopod phenotype",
- "phenotypic effect",
- "number of myeloid cell phenotype",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "Abnormality of blood and blood-forming tissues",
- "hematopoietic system",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "absent forelimb long bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Neutropenia",
- "number of anatomical enitites of type neutrophil phenotype",
- "All",
- "Abnormal eye morphology",
- "appendicular skeleton",
- "male organism phenotype",
- "Abnormality of the male genitalia",
- "Pallor",
- "reproductive structure phenotype",
- "decreased number of hematopoietic cell",
- "absent anatomical entity in the renal system",
- "autopod region morphology phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
"skeletal system morphology phenotype",
- "decreased number of cell",
- "growth",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "specifically dependent continuant",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased number of neutrophil",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "skeletal system",
+ "pectoral complex",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
"absent multicellular anatomical structure in the limb",
+ "delayed biological_process",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
"musculature of body",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "absent abdominal segment element",
- "endochondral bone",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
"absent bone of appendage girdle complex",
- "oxygen accumulating cell",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "main body axis",
- "forelimb endochondral element phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "decreased size of the material anatomical entity",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "musculoskeletal system phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
"number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "erythroid lineage cell morphology phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
"paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "Renal hypoplasia/aplasia",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "external genitalia",
- "aplasia or hypoplasia of manual digit",
- "eye movement",
- "Infertility",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
+ "radius endochondral element",
+ "circulatory system phenotype",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
"bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent radius endochondral element in the forelimb",
- "Abnormality of the vasculature",
- "pectoral appendage",
- "bone element",
- "gonad",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
"absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
"forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "absent compound organ",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "absent limb bone in the forelimb",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
"anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
"decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
"non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "arm bone phenotype",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "serotonin secreting cell",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
"appendage girdle complex",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
"long bone phenotype",
- "testis",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "multicellular organism mass phenotype",
+ "endochondral element",
"skeleton phenotype",
+ "material entity",
"anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Decreased fertility in males",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "cavitated compound organ phenotype",
- "biogenic amine secreting cell",
- "cell cycle phenotype",
- "platelet",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent mesoderm-derived structure in the multicellular organism",
- "anucleate cell",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "reproductive structure",
- "male reproductive organ phenotype",
- "craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "Cryptorchidism",
- "thoracic cavity element",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "Male infertility",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "lateral structure phenotype",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
"pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "Abnormality of head or neck",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
+ "number of cell phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "Duplication of thumb phalanx",
+ "Short thumb",
"external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
+ "forelimb long bone",
+ "thoracic cavity element",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
+ "Abnormal leukocyte count",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "cardiovascular system morphology phenotype",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
"localised gonad",
- "primary circulatory organ",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "localised anatomical entity",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
+ "absent lateral structure",
+ "cellular organisms",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
+ "compound organ",
+ "Eukaryota",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
"Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1"
+ "excretory system",
+ "renal system morphology phenotype",
+ "eye phenotype",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
+ "upper limb segment phenotype",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "heart plus pericardium",
+ "absent anatomical entity",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "circulatory organ phenotype",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "skin of body phenotype",
+ "absent abdominal segment element in the renal system",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal skin morphology",
+ "regional part of nervous system",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "integumental system phenotype",
+ "limb phenotype",
+ "circulatory disorder",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "immune system",
+ "decreased number of leukocyte",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "arm bone",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "root",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "Renal hypoplasia/aplasia",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "Pallor",
+ "continuant",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "organ phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "paired limb/fin segment",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "abdominal segment of trunk",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "entity",
+ "decreased number of anatomical entity",
+ "abdomen element phenotype",
+ "mesoderm-derived structure",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "Abnormal neutrophil count",
+ "Decreased fertility",
+ "anatomical entity",
+ "absent autopodial extension",
+ "integumental system",
+ "regulation of biological process",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "renal system",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "granulocyte morphology phenotype",
+ "Abnormality of the genitourinary system",
+ "paired limb/fin skeleton phenotype",
+ "regulation of gene expression",
+ "Generalized abnormality of skin",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "neutrophil phenotype",
+ "Cryptorchidism",
+ "nervous system physiology phenotype",
+ "vascular system",
+ "nucleate cell",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormal bleeding",
+ "cell",
+ "appendicular skeletal system",
+ "anatomical system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb"
],
"has_phenotype_count": 34,
"highlight": null,
@@ -2099,21 +2074,17 @@
"HP:0001510",
"HP:0001511",
"HP:0009777",
- "HP:0000568",
"HP:0009892",
"HP:0004590",
"HP:0000151",
- "HP:0000470",
"HP:0001263",
"HP:0003221",
"HP:0002032",
"HP:0011968",
"HP:0001321",
- "HP:0000431",
"HP:0000175",
"HP:0000054",
"HP:0002575",
- "HP:0005528",
"HP:0000238",
"HP:0000437",
"HP:0000316",
@@ -2122,10 +2093,14 @@
"HP:0001903",
"HP:0000957",
"HP:0000122",
- "HP:0000089",
"HP:0002023",
"HP:0002188",
- "HP:0000582"
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
+ "HP:0000089"
],
"has_phenotype_label": [
"Bilateral talipes equinovarus",
@@ -2137,21 +2112,17 @@
"Growth delay",
"Intrauterine growth retardation",
"Absent thumb",
- "Microphthalmia",
"Anotia",
"Hypoplastic sacrum",
"Aplasia of the uterus",
- "Short neck",
"Global developmental delay",
"Chromosomal breakage induced by crosslinking agents",
"Esophageal atresia",
"Feeding difficulties",
"Cerebellar hypoplasia",
- "Wide nasal bridge",
"Cleft palate",
"Micropenis",
"Tracheoesophageal fistula",
- "Bone marrow hypocellularity",
"Hydrocephalus",
"Depressed nasal tip",
"Hypertelorism",
@@ -2160,15400 +2131,15018 @@
"Anemia",
"Cafe-au-lait spot",
"Unilateral renal agenesis",
- "Renal hypoplasia",
"Anal atresia",
"Delayed CNS myelination",
- "Upslanted palpebral fissure"
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
+ "Renal hypoplasia"
],
"has_phenotype_closure": [
- "UBERON:0035639",
- "HP:0000582",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
"HP:0030669",
- "UBERON:0001711",
- "UBERON:0034921",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
"HP:0008050",
- "UPHENO:0002643",
- "UPHENO:0003085",
- "GO:0007399",
- "GO:0032291",
- "GO:0042552",
- "GO:0022008",
- "GO:0021782",
- "GO:0008366",
- "GO:0048468",
- "UPHENO:0050734",
- "GO:0048731",
- "UPHENO:0000554",
- "UPHENO:0000555",
- "GO:0048709",
- "GO:0042063",
- "GO:0014003",
- "UPHENO:0051450",
- "UPHENO:0050406",
- "UPHENO:0000558",
- "HP:0002188",
- "GO:0009987",
- "UPHENO:0050379",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
"GO:0007272",
- "GO:0048869",
- "UPHENO:0000552",
+ "UPHENO:0000553",
"UPHENO:0050121",
- "UPHENO:0063596",
+ "GO:0022010",
+ "UPHENO:0000555",
+ "HP:0002188",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
+ "UPHENO:0050379",
"UBERON:0000161",
- "UPHENO:0086644",
- "HP:0004378",
- "UPHENO:0074227",
- "UPHENO:0063581",
+ "UPHENO:0063596",
"HP:0034915",
- "HP:0002023",
- "UBERON:0001245",
- "HP:0000089",
- "UBERON:0011143",
- "UPHENO:0076779",
- "HP:0000079",
- "UPHENO:0011770",
- "UPHENO:0026600",
- "UPHENO:0011931",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
"HP:0008678",
- "UPHENO:0087427",
- "HP:0012447",
- "UPHENO:0026308",
- "UPHENO:0026980",
- "HP:0000104",
- "HP:0032039",
- "UBERON:0000489",
+ "UBERON:0001008",
+ "UPHENO:0009011",
"UPHENO:0011559",
"UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
"UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
"HP:0000077",
"UPHENO:0002803",
- "UPHENO:0008827",
- "UPHENO:0000553",
- "UBERON:0000916",
+ "UPHENO:3000004",
"UBERON:8450002",
- "UPHENO:0003094",
+ "UBERON:0011143",
+ "UPHENO:0075902",
"UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0009129",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "HP:0001034",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
"UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000492",
- "UPHENO:0002812",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
"HP:0000953",
- "UPHENO:0076739",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
"UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "HP:0001000",
- "HP:0005927",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0008736",
- "CL:0000763",
- "UBERON:0001442",
- "UBERON:0012140",
- "UBERON:0002544",
- "HP:0012733",
- "UBERON:0006048",
- "HP:0011400",
- "UPHENO:0009382",
- "UPHENO:0052778",
- "HP:0000238",
- "UPHENO:0005647",
- "UPHENO:0004476",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UBERON:0001691",
- "UBERON:0012139",
- "UPHENO:0002585",
- "HP:0001510",
- "UPHENO:0049775",
- "UPHENO:0011825",
- "UPHENO:0052855",
- "UPHENO:0002269",
- "UBERON:0008340",
- "UPHENO:0086700",
- "UPHENO:0002385",
- "UBERON:0010363",
- "HP:0000568",
- "GO:0009790",
- "UPHENO:0004956",
- "UPHENO:0005433",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
"UPHENO:3000007",
- "UPHENO:0002934",
- "NBO:0000604",
- "HP:0000707",
- "UPHENO:0025666",
- "HP:0025766",
- "GO:0008150",
- "UBERON:5002389",
- "HP:0000708",
- "HP:0000752",
- "HP:0012639",
- "HP:0025461",
- "HP:0025732",
- "UPHENO:0002648",
- "HP:0007018",
- "UBERON:0002028",
- "GO:0050877",
- "UBERON:0011138",
- "UPHENO:0081320",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "HP:0000465",
- "UBERON:0004921",
- "UPHENO:0002828",
- "UPHENO:0003074",
- "UPHENO:0050063",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0025497",
- "HP:0002973",
- "UPHENO:0025961",
- "UPHENO:0002983",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
"UPHENO:0001570",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0010740",
- "UPHENO:0026073",
- "GO:0031323",
- "UPHENO:0025547",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0080281",
- "UPHENO:0076800",
- "UPHENO:0002751",
- "UPHENO:0076720",
- "HP:0009825",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0002880",
- "UPHENO:0002969",
- "HP:0002715",
- "BFO:0000003",
- "UPHENO:0008430",
- "UBERON:0005881",
- "UPHENO:0080171",
- "UPHENO:0076718",
- "UPHENO:0076786",
- "UPHENO:0025136",
- "UPHENO:0003514",
- "HP:0000152",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "HP:0025780",
- "UBERON:0000978",
- "HP:0002817",
- "HP:0008551",
- "UPHENO:0002905",
- "UPHENO:0008475",
- "UPHENO:0009399",
- "UPHENO:0053456",
- "UPHENO:0069236",
- "GO:0030154",
- "UBERON:0008962",
- "UPHENO:0011817",
- "UBERON:0015001",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "HP:0001574",
- "UPHENO:0002267",
- "UPHENO:0081784",
- "UBERON:0003606",
- "UPHENO:0081451",
- "UPHENO:0003227",
- "UPHENO:0056333",
- "UPHENO:3000004",
- "UPHENO:0026312",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
+ "UPHENO:0002754",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
"UBERON:0000167",
- "UPHENO:0002632",
- "HP:0011297",
- "UPHENO:0052178",
- "HP:0000812",
- "UBERON:0010712",
- "UBERON:0011249",
- "UBERON:0001440",
- "UPHENO:0054970",
- "UPHENO:0025845",
- "UBERON:0034925",
- "UPHENO:0002659",
- "GO:0050789",
- "HP:0009815",
- "UPHENO:0002594",
- "UBERON:0001008",
- "HP:0010460",
- "UBERON:0002428",
- "UPHENO:0025587",
- "UPHENO:0004523",
- "UPHENO:0080158",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
"UBERON:0001716",
- "UPHENO:0002719",
- "UPHENO:0002870",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
+ "UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
"UPHENO:0087349",
- "UPHENO:0025661",
- "HP:0001511",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
"GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
"GO:0010629",
- "UPHENO:0025507",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0002546",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0001584",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0014240",
- "UBERON:0015061",
- "UBERON:0001558",
- "UBERON:5002544",
- "UPHENO:0026806",
- "UPHENO:0026628",
- "UBERON:0003975",
- "HP:0040070",
- "UPHENO:0009337",
- "UPHENO:0002600",
- "UPHENO:0008865",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "UPHENO:0009341",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UBERON:0002413",
- "HP:0012252",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0026506",
- "GO:0048856",
- "UBERON:0004708",
- "UPHENO:0009366",
- "UPHENO:0011749",
- "UPHENO:0025509",
- "UPHENO:0079872",
- "UPHENO:0076727",
- "UPHENO:0026344",
- "HP:0005922",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UPHENO:0004459",
- "UBERON:0007914",
- "UPHENO:0026082",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
"UBERON:0000474",
- "HP:0000277",
- "UBERON:0010708",
- "UBERON:0002091",
- "UBERON:0000026",
- "HP:0005561",
- "UPHENO:0075877",
- "UPHENO:0025852",
- "UPHENO:0041080",
- "UPHENO:0079876",
- "UPHENO:0025808",
- "UPHENO:0005029",
- "HP:0008684",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "PATO:0000001",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0080087",
- "UPHENO:0087806",
- "UPHENO:0002901",
- "UPHENO:0004418",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0003082",
- "UPHENO:0033572",
- "UBERON:0004111",
- "UPHENO:0087006",
- "UBERON:0001032",
- "UBERON:0003134",
- "UPHENO:0002818",
- "HP:0006496",
- "HP:0000925",
- "HP:0011844",
- "HP:0000357",
- "UBERON:0010364",
- "UPHENO:0008825",
- "UPHENO:0087278",
- "HP:5201015",
- "UPHENO:0018414",
- "HP:0008518",
- "UPHENO:0005170",
- "UPHENO:0002785",
- "UPHENO:0026146",
- "UPHENO:0075998",
- "UBERON:0013701",
- "UBERON:0011676",
- "HP:0000130",
- "HP:0005105",
- "UPHENO:0002868",
- "UPHENO:0001072",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
"UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0002948",
- "UBERON:0000475",
- "UPHENO:0081099",
- "HP:0003953",
- "UPHENO:0014320",
- "UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0005008",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0063580",
- "UBERON:0000020",
- "UPHENO:0087433",
- "UPHENO:0002763",
- "HP:0000118",
- "UBERON:0001690",
- "UPHENO:0002838",
- "HP:0000377",
- "UBERON:0010314",
- "UPHENO:0011557",
- "UPHENO:0011492",
- "HP:0002011",
- "HP:0030791",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UBERON:0000974",
- "UPHENO:0002750",
- "UPHENO:0025187",
- "UPHENO:0076752",
- "UPHENO:0025135",
- "UPHENO:0081783",
- "UPHENO:0014971",
- "UBERON:0003690",
- "HP:0000369",
- "HP:0006501",
- "UPHENO:0050034",
- "UPHENO:0011498",
- "UPHENO:0011538",
- "BFO:0000020",
- "UPHENO:0004595",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
"UBERON:0002101",
- "HP:0040072",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0009305",
- "UPHENO:0008640",
- "UBERON:0000033",
- "HP:0003974",
- "UPHENO:0009181",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "HP:0000122",
- "HP:0000929",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0079826",
- "UBERON:0008001",
- "UPHENO:0002650",
- "UPHENO:0004909",
- "UPHENO:0005022",
- "UBERON:0005181",
- "UPHENO:0002531",
- "UBERON:0000467",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "HP:0002977",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "NBO:0000011",
- "UPHENO:0026630",
- "UPHENO:0076754",
"UBERON:0004122",
- "HP:0034261",
- "UPHENO:0086932",
- "UPHENO:0080382",
- "GO:0050794",
- "UBERON:0001444",
- "HP:0005656",
- "UBERON:0005177",
- "UPHENO:0002987",
- "UBERON:0004765",
- "UPHENO:0006147",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UBERON:0019231",
- "UPHENO:0081575",
- "UBERON:0003466",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0009344",
- "UPHENO:0003411",
- "HP:0001172",
- "UPHENO:0011572",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0011158",
- "UBERON:0000468",
- "UPHENO:0002816",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UBERON:0011159",
- "BFO:0000001",
- "UBERON:0002398",
- "UPHENO:0002568",
- "HP:0002692",
- "UPHENO:0000556",
- "UPHENO:0002731",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
"UBERON:0003828",
- "UPHENO:0056237",
- "HP:0002814",
- "UPHENO:0068971",
- "HP:0000736",
- "UBERON:0000004",
- "UPHENO:0002942",
- "UBERON:0003457",
- "UPHENO:0001001",
- "UBERON:0002090",
- "UBERON:0003113",
- "UPHENO:0063579",
- "UPHENO:0026486",
- "UPHENO:0005424",
- "UBERON:0010538",
- "UPHENO:0002971",
- "GO:0007417",
- "NBO:0000308",
- "UBERON:0007196",
- "UPHENO:0002772",
- "UPHENO:0026808",
- "UBERON:0002199",
- "UPHENO:0002761",
- "UBERON:0008785",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
"UPHENO:0080196",
- "UPHENO:0003460",
- "UPHENO:0086172",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
"HP:0000001",
- "CL:0000329",
- "UPHENO:0008743",
- "UPHENO:0003020",
- "UPHENO:0002593",
- "RO:0002577",
- "UBERON:0010709",
- "UBERON:0005174",
- "UPHENO:0004494",
- "UPHENO:0025739",
- "UPHENO:0025811",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
"UPHENO:0026984",
- "UBERON:0000153",
- "UBERON:0002102",
- "UPHENO:0000543",
+ "UPHENO:0002715",
+ "UBERON:0004247",
"HP:0009380",
- "UPHENO:0002536",
- "UPHENO:0086595",
- "UPHENO:0081786",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "HP:0006503",
- "UPHENO:0026227",
- "UPHENO:0002782",
- "HP:0001760",
- "UPHENO:0002976",
- "UPHENO:0041203",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "HP:0001507",
- "UPHENO:0063565",
- "UPHENO:0086589",
- "BFO:0000040",
- "UBERON:0000072",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "HP:0002813",
- "HP:0010938",
- "UPHENO:0025776",
- "BFO:0000015",
- "UPHENO:0087907",
- "HP:0000163",
- "UPHENO:0049622",
- "UBERON:0002495",
- "UPHENO:0008523",
- "HP:0005607",
- "UPHENO:0069266",
- "UPHENO:0002736",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0025243",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "HP:0009121",
- "UPHENO:0026507",
- "UPHENO:0025553",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UBERON:0010313",
- "UPHENO:0074245",
- "UPHENO:0002957",
- "HP:0009822",
- "GO:0031049",
- "GO:0032502",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
+ "UPHENO:0075948",
"UPHENO:0002833",
- "UPHENO:0063559",
- "UPHENO:0041226",
- "UPHENO:0081210",
- "UPHENO:0080325",
- "HP:0000734",
- "HP:0007400",
- "UBERON:0000154",
- "UPHENO:0088186",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UBERON:0011584",
- "UPHENO:0003095",
- "HP:0011842",
- "UPHENO:0008668",
- "UPHENO:0025817",
- "HP:0100543",
- "UPHENO:0002550",
- "UPHENO:0080187",
- "UPHENO:0009011",
- "NCBITaxon:33208",
- "UPHENO:0008487",
- "HP:0009118",
- "UPHENO:0008593",
- "UBERON:0004710",
- "UPHENO:0002732",
- "UPHENO:0003412",
- "BFO:0000004",
- "UBERON:0000075",
- "UPHENO:0009209",
- "UBERON:0003462",
- "UPHENO:0080165",
- "UPHENO:0009163",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
+ "UPHENO:0050065",
"HP:0002795",
- "UPHENO:0002926",
- "UPHENO:0026010",
- "UPHENO:0002725",
- "HP:0100887",
- "UPHENO:0080300",
- "UPHENO:0084763",
- "UPHENO:0002963",
- "HP:0001883",
- "UBERON:0002100",
- "UPHENO:0005986",
- "UPHENO:0075890",
- "HP:0000356",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0015203",
- "UBERON:0002514",
- "UBERON:0000019",
- "CL:0002092",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UBERON:0004120",
- "UPHENO:0025166",
- "UPHENO:0087472",
- "HP:0000598",
- "HP:0012448",
- "UPHENO:0004173",
- "GO:0010001",
- "NBO:0000455",
- "UPHENO:0003413",
- "UPHENO:0050372",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0003070",
- "UBERON:0003463",
- "HP:0000234",
- "UBERON:0007272",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
"UPHENO:0080099",
- "UPHENO:0087510",
- "UBERON:0001684",
- "UBERON:0002105",
- "UPHENO:0002928",
- "HP:0011821",
- "HP:0010935",
- "UPHENO:0041041",
- "UPHENO:0005092",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0063639",
- "HP:0009116",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0042592",
- "UPHENO:0081141",
- "HP:0009122",
- "UBERON:0007811",
- "UBERON:0012360",
- "UBERON:0005451",
- "UBERON:0001555",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
"HP:0025668",
- "UPHENO:0084457",
- "UBERON:0006717",
- "UPHENO:0002910",
- "UBERON:0000165",
- "UPHENO:0080110",
- "HP:0025031",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
"UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0050106",
- "UPHENO:0082875",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0011533",
- "NBO:0000607",
- "UPHENO:0026074",
- "GO:0060255",
- "UPHENO:0026095",
- "UBERON:0000064",
- "UBERON:0000117",
- "GO:0031326",
- "UPHENO:0080010",
- "UBERON:0001270",
- "UPHENO:0063558",
- "UBERON:0011137",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
"UBERON:0001463",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "HP:0001263",
- "HP:0000036",
- "UPHENO:0002746",
- "UPHENO:0026514",
- "UPHENO:0003029",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0011563",
- "HP:0009823",
- "UPHENO:0002994",
- "UPHENO:0081091",
- "UPHENO:3000000",
- "UBERON:0001456",
- "HP:0012433",
- "UBERON:0002355",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0076703",
- "UPHENO:0002988",
- "HP:0031816",
- "UPHENO:0003811",
- "UPHENO:0081788",
- "HP:0040064",
- "UPHENO:0003004",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
"UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0074231",
- "UPHENO:0004704",
- "UPHENO:0002694",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0009295",
- "UPHENO:0005230",
- "UPHENO:0002721",
- "UPHENO:0081566",
- "HP:5200263",
- "UBERON:0004709",
- "UPHENO:0027017",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002927",
- "UBERON:0011156",
- "HP:0002031",
- "HP:0000347",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002559",
- "GO:0007610",
- "UPHENO:0026098",
- "UPHENO:0088168",
- "UBERON:0000062",
- "HP:0033127",
- "UBERON:0007842",
- "HP:0000119",
- "HP:0011446",
- "UPHENO:0088116",
- "HP:0009892",
- "BFO:0000141",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0002896",
- "UBERON:0001043",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UPHENO:0008709",
- "HP:0012638",
- "UPHENO:0026239",
- "GO:0050890",
- "UPHENO:0086633",
- "HP:0001762",
- "UBERON:5006048",
- "UBERON:0012477",
- "HP:0000437",
"UPHENO:0009146",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0008548",
- "HP:0009777",
- "UBERON:0005156",
- "UBERON:0004456",
- "UPHENO:0005058",
- "UPHENO:0025215",
- "UPHENO:0063599",
- "UBERON:0004176",
- "UPHENO:0063577",
- "UBERON:0005172",
- "UBERON:0005358",
- "HP:0000951",
- "UPHENO:0004788",
- "HP:0000315",
- "UPHENO:0076785",
- "UBERON:0004923",
- "UBERON:0006800",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0068914",
- "UPHENO:0004757",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UPHENO:0069161",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
+ "CL:0000000",
"UBERON:0003278",
- "UBERON:0004088",
- "UPHENO:0018426",
- "HP:0011282",
- "UBERON:0000970",
- "UPHENO:0080209",
- "HP:0008056",
- "HP:0012372",
- "UBERON:0015007",
- "HP:0001317",
- "HP:0000478",
- "UBERON:0005179",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
+ "UPHENO:0008548",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
"UPHENO:0005573",
- "HP:0010461",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
"UPHENO:0003410",
- "UBERON:0000047",
- "UPHENO:0056149",
- "UPHENO:0069064",
- "GO:0010468",
- "UPHENO:0069523",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "UPHENO:0081095",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "UPHENO:0008545",
- "UPHENO:0050068",
- "UPHENO:0025777",
- "HP:0008771",
- "UPHENO:0002532",
- "UPHENO:0025570",
- "UPHENO:0080111",
- "UBERON:0001015",
- "UPHENO:0025234",
- "UBERON:0003100",
- "UPHENO:0074232",
- "UPHENO:0025855",
- "HP:0008772",
- "UPHENO:0025708",
- "HP:0000464",
- "UPHENO:0026706",
- "UPHENO:0005104",
- "UPHENO:0081585",
- "UPHENO:0026023",
- "UPHENO:0026280",
- "UPHENO:0003101",
- "UPHENO:0025882",
- "UBERON:0012128",
- "HP:0004590",
+ "HP:5200263",
+ "HP:0000202",
+ "UPHENO:0002910",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
+ "GO:0008150",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
+ "HP:0025031",
"HP:5200241",
- "UPHENO:0008604",
- "UBERON:0006075",
- "UBERON:0005473",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002813",
- "HP:0000422",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UPHENO:0003027",
- "UPHENO:0003092",
- "UBERON:0004908",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
"UPHENO:0005106",
- "UPHENO:0003038",
- "UBERON:0005173",
- "UPHENO:0075804",
- "UBERON:0006077",
- "UPHENO:0003093",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0063563",
- "UPHENO:0041458",
- "UBERON:0009569",
- "UPHENO:0003812",
- "UPHENO:0011739",
- "UBERON:0004247",
- "UBERON:0000025",
- "UPHENO:0081328",
- "HP:0011017",
- "UPHENO:0002616",
- "UPHENO:0025955",
+ "HP:0000130",
+ "UPHENO:0081511",
"UPHENO:0002755",
- "UPHENO:0003002",
- "HP:0008517",
- "UPHENO:0075902",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
"UPHENO:0026813",
- "UPHENO:0002654",
- "UPHENO:0076761",
- "HP:0005107",
- "UPHENO:0074237",
- "HP:0000008",
- "HP:0011968",
- "UPHENO:0087974",
- "UBERON:0000993",
- "UPHENO:0056250",
- "UBERON:0003133",
- "BFO:0000002",
- "UBERON:0004089",
- "UPHENO:0025631",
- "UPHENO:0009391",
- "UPHENO:0002448",
- "HP:0000151",
- "UBERON:0000464",
- "UBERON:0000990",
- "UPHENO:0027020",
- "UBERON:0008907",
- "UPHENO:0001304",
- "UBERON:0005944",
- "UBERON:0000995",
- "UPHENO:0049743",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
"UBERON:0004175",
- "UBERON:0005409",
- "UPHENO:0003952",
- "UBERON:0003103",
- "UPHENO:0087547",
- "GO:0022010",
- "HP:0000309",
- "UPHENO:0076766",
- "UPHENO:0026152",
- "UPHENO:0011847",
- "UPHENO:0074229",
- "UPHENO:0003053",
- "UPHENO:0009115",
+ "UBERON:0001440",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
"UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
"UPHENO:0025195",
- "UPHENO:0002977",
- "UPHENO:0008850",
- "UPHENO:0009031",
- "UPHENO:0025401",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0026529",
- "GO:0048523",
- "UPHENO:0011485",
- "UPHENO:0002646",
- "UPHENO:0009396",
- "UPHENO:0002598",
- "UPHENO:0056226",
- "UPHENO:0026407",
- "UPHENO:0027008",
- "UPHENO:0026014",
- "UPHENO:0002642",
- "UBERON:0001017",
- "UPHENO:0025875",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
+ "UPHENO:0027017",
+ "NCBITaxon:2759",
"UBERON:0004756",
- "UPHENO:0004709",
- "UPHENO:0002523",
- "HP:0012243",
- "UPHENO:0002687",
- "UPHENO:0002955",
- "UPHENO:0026509",
- "UBERON:0005434",
- "UPHENO:0033599",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046571",
- "HP:0000470",
- "CL:0000988",
- "UPHENO:0074360",
- "UBERON:0003129",
- "HP:0003319",
- "UPHENO:0063586",
- "UBERON:0008811",
- "UPHENO:0087563",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UBERON:0010913",
- "UPHENO:0002674",
- "UPHENO:0002769",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UBERON:0002412",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0001025",
- "UPHENO:0046483",
- "HP:0012759",
- "HP:0200006",
- "HP:0012758",
- "HP:0025354",
- "CL:0000000",
- "UPHENO:0074310",
- "HP:0000316",
- "UPHENO:0050778",
- "HP:0000153",
- "UPHENO:0002907",
- "GO:0008152",
- "UPHENO:0076740",
- "GO:0065007",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
+ "UBERON:0005409",
"UPHENO:0005642",
- "UPHENO:0025176",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
"UPHENO:0011548",
- "GO:0031327",
- "UPHENO:0076760",
- "GO:0010558",
- "HP:0001939",
- "UBERON:0000989",
- "GO:0043473",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0025883",
- "HP:0000431",
- "UPHENO:0050065",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "GO:0010556",
- "UPHENO:0049642",
- "HP:0040012",
- "UBERON:0002416",
- "NBO:0000313",
- "GO:0048519",
- "GO:0019222",
- "UPHENO:0050784",
- "HP:0003221",
- "UPHENO:0004536",
- "UPHENO:0078606",
- "HP:0012760",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0026940",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0050126",
- "UPHENO:0074230",
- "GO:0009889",
- "HP:0000366",
- "UPHENO:0074329",
- "UPHENO:0074228",
- "UBERON:0002405",
- "HP:0002032",
- "UBERON:0000915",
- "UPHENO:0002830",
- "UPHENO:0063575",
- "HP:0002589",
- "UPHENO:0074335",
- "UPHENO:0081511",
- "UPHENO:0003086",
- "HP:0011024",
- "UPHENO:0063574",
- "UPHENO:0004486",
- "UBERON:0010323",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0075655",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "BFO:0000002",
+ "UPHENO:0063563",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
"UPHENO:0063603",
+ "UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
+ "UPHENO:0003460",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0007811",
"HP:0045060",
- "UPHENO:0063576",
- "GO:0032501",
- "UPHENO:0074330",
- "HP:0011458",
- "HP:0025032",
- "UPHENO:0002443",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0031703",
- "HP:0000050",
- "UPHENO:0025585",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0002575",
- "UPHENO:0049620",
- "UBERON:0001895",
- "HP:5200044",
- "UPHENO:0004802",
- "UBERON:0013702",
- "UPHENO:0006173",
- "NCBITaxon:1",
- "UPHENO:0076791",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
"HP:0100886",
- "UBERON:0001710",
- "UPHENO:0081601",
- "UPHENO:0003459",
- "UPHENO:0069327",
- "UPHENO:0002715",
- "UPHENO:0004521",
- "UPHENO:0081581",
- "UBERON:0001423",
"UPHENO:0002964",
- "UBERON:0000481",
- "UBERON:0004733",
- "UBERON:0002616",
- "UBERON:0013515",
- "UPHENO:0072264",
- "UPHENO:0018390",
- "UBERON:0000955",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0056242",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
"UPHENO:0080089",
- "UPHENO:0075948",
- "UPHENO:0076702",
- "HP:0012443",
- "HP:0007360",
- "UBERON:0002104",
- "UPHENO:0056230",
- "UPHENO:0003069",
- "UPHENO:0008689",
- "HP:0011283",
- "NCBITaxon:2759",
- "UPHENO:0003936",
- "UBERON:0000073",
- "UPHENO:0002433",
- "UPHENO:0002722",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "UPHENO:0087585",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
+ "UBERON:0000026",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
+ "UPHENO:0002586",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
"UPHENO:0002685",
- "UPHENO:0001134",
- "GO:0031324",
- "UBERON:0004119",
- "UPHENO:0087950",
- "UPHENO:0086635",
- "UBERON:0006333",
- "HP:0009115",
- "UPHENO:0003067",
- "UBERON:0002268",
- "UBERON:0011216",
- "UPHENO:0006146",
- "UPHENO:0006161",
- "UPHENO:0001303",
- "UPHENO:0006140",
- "UPHENO:0033592",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UPHENO:0004520",
- "UPHENO:0033560",
- "UBERON:0000466",
- "UPHENO:0081314",
- "UPHENO:0002962",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
"UPHENO:0033612",
- "UBERON:0002553",
- "UBERON:0007827",
- "UPHENO:0033587",
- "HP:0000202",
- "UBERON:0001004",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0033589",
- "UPHENO:0086824",
- "UPHENO:0002891",
- "UBERON:0004732",
- "HP:0000175",
- "UPHENO:0009021",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0026097",
- "UPHENO:0002595",
- "HP:0003241",
- "HP:0000054",
- "UBERON:0007779",
- "UBERON:0003135",
- "UBERON:0000079",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0005025",
- "UBERON:0001708",
- "UPHENO:0002697",
- "UPHENO:0003058",
- "UBERON:0004053",
- "UBERON:0003101",
- "UPHENO:0008816",
- "HP:0000032",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UPHENO:0002754",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "HP:0002778",
- "UBERON:0002193",
- "UBERON:0002390",
- "UPHENO:0002651",
- "UBERON:0002371",
- "UPHENO:0003065",
- "HP:0005528",
- "HP:0006265",
- "HP:0000811",
- "HP:0001871",
- "HP:0012145",
- "UBERON:0000479",
- "UBERON:0004086",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
"UPHENO:0014351",
- "UPHENO:0014292",
- "UPHENO:0088047",
- "UPHENO:0015184",
- "UBERON:0001359",
- "UPHENO:0014761",
- "NCBITaxon:131567",
- "UPHENO:0014291",
- "UPHENO:0014865",
- "UPHENO:0056158",
- "UBERON:0002103",
- "UBERON:0003947",
- "HP:0002921",
- "UPHENO:0088185",
- "UBERON:0000463",
- "UPHENO:0011845",
- "UPHENO:0063615",
- "UPHENO:0056251",
- "UBERON:0001137",
- "UPHENO:0056150",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
"UBERON:0006983",
- "HP:0000436",
- "UPHENO:0087430",
- "UPHENO:0041098",
- "UPHENO:0002837",
- "UPHENO:0025508",
- "UBERON:0034929",
- "UBERON:0001709",
- "UPHENO:0002668",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0002727",
- "UBERON:0000015",
- "UPHENO:0072195",
- "HP:0001321",
- "UPHENO:0018424",
- "UPHENO:0025544",
- "UPHENO:0002864",
+ "UBERON:0003463",
+ "UBERON:0011137",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
"UPHENO:0072200",
- "UBERON:0001005",
- "UPHENO:0005016",
- "UPHENO:0072194",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
+ "UPHENO:0080377",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "UPHENO:0063562",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
"HP:0001776",
- "UPHENO:0072185",
- "UPHENO:0002887",
- "UBERON:0010222",
- "UPHENO:0009192",
- "CL:0001035",
- "UPHENO:0081119",
- "UPHENO:0088162",
- "UPHENO:0026183",
- "CL:0000081",
- "CL:0000232",
- "HP:0000924",
- "HP:0012130",
- "CL:0000764",
- "UPHENO:0088170",
- "HP:0001903",
- "HP:0001877",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662"
- ],
- "has_phenotype_closure_label": [
- "multi organ part structure phenotype",
- "Slanting of the palpebral fissure",
- "Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eyelid",
- "palpebral fissure",
- "Abnormality of the palpebral fissures",
- "multi organ part structure",
- "Upslanted palpebral fissure",
- "delayed axon ensheathment in central nervous system",
- "Abnormal CNS myelination",
- "myelination phenotype",
- "cellular developmental process",
- "delayed cellular process",
- "central nervous system development",
- "axon ensheathment in central nervous system",
- "glial cell differentiation",
- "glial cell development",
- "ensheathment of neurons phenotype",
- "central nervous system myelination phenotype",
- "cellular process",
- "delayed central nervous system myelination",
- "delayed ensheathment of neurons",
- "axon ensheathment in central nervous system phenotype",
- "oligodendrocyte differentiation",
- "gliogenesis",
- "axon ensheathment",
- "cell development",
- "delayed myelination",
- "Abnormal anus morphology",
- "orifice",
- "anus phenotype",
- "anus atresia",
- "Abnormality of the anus",
- "anatomical conduit atresia",
- "anus",
- "orifice phenotype",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
+ "UBERON:5002389",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
+ "UPHENO:0003049",
+ "UBERON:0002102",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708"
+ ],
+ "has_phenotype_closure_label": [
"kidney hypoplasia",
- "absent abdomen element",
- "number of anatomical enitites of type compound organ phenotype",
- "absent trunk region element in the renal system",
- "renal system morphology phenotype",
- "absent kidney in the renal system",
- "excretory system",
- "absent abdomen element in the renal system",
- "upper urinary tract",
- "kidney phenotype",
- "Renal hypoplasia/aplasia",
- "absent cavitated compound organ in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "renal/urinary system phenotype",
- "absent kidney",
- "Unilateral renal agenesis",
- "absent anatomical structure in the renal system",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "abdomen element phenotype",
- "abdomen element",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "cavitated compound organ",
- "abdomen",
- "Irregular hyperpigmentation",
- "integumental system",
- "Abnormality of the integument",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "renal system phenotype",
- "integument phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of the hand",
- "skull",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "absent organism subdivision",
- "head bone",
- "skeleton of manus",
- "Abnormal hand morphology",
- "manual digit 1",
- "bone of appendage girdle complex",
- "upper jaw region",
- "manual digit morphology in the manus phenotype",
- "manual digit 1 plus metapodial segment",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "head",
- "regional part of brain",
- "manus morphology phenotype",
- "absent uterus",
- "reproductive system",
- "embryo development rate phenotype",
- "paired limb/fin segment",
- "cerebellum",
- "decreased qualitatively embryo development",
- "absent material anatomical entity in the head",
- "absent material anatomical entity in the reproductive system",
- "skin of body",
- "multicellular organism development phenotype",
- "male reproductive system phenotype",
- "developmental process",
- "anatomical structure development phenotype",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "developmental process rate phenotype",
- "ensheathment of neurons",
- "subdivision of head",
- "growth",
- "entity",
- "Growth delay",
- "respiratory system",
- "Hypoplastic facial bones",
- "absent multicellular anatomical structure in the renal system",
- "attention behavior",
- "multicellular organism development",
- "Abnormal volitional state",
- "Abnormality of the nervous system",
- "Disinhibition",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "material anatomical entity physiology phenotype",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
"decreased length of neck",
- "Micrognathia",
- "aplastic manual digit 1",
- "Atypical behavior",
- "nervous system physiology phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "Attention deficit hyperactivity disorder",
- "Abnormal erythroid lineage cell morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "multicellular organismal process",
- "decreased behavior",
- "bone of jaw phenotype",
- "biological_process",
- "limb phenotype",
- "absent reproductive structure in the female reproductive system",
- "behavior process phenotype",
- "oligodendrocyte development",
- "social behavior",
- "nervous system process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "neck",
- "Abnormality of the orbital region",
- "decreased embryo development",
- "Abnormality of the neck",
- "arm phenotype",
- "bone of pectoral complex phenotype",
- "digit 1",
- "curvature anatomical entity",
- "mesoderm-derived structure",
- "absent endochondral bone in the forelimb",
- "digestive system element atresia",
- "flat nose tip",
- "appendicular skeleton phenotype",
- "tracheobronchial tree morphology phenotype",
- "absent limb bone",
- "aplasia or hypoplasia of mandible",
- "increased size of the non-material anatomical boundary",
- "absent endochondral element",
- "agenesis of anatomical entity",
- "bone of appendage girdle complex phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of digestive tract atresia",
- "limb bone morphology phenotype",
- "digestive system element",
- "external genitalia",
- "absent radius endochondral element",
- "forelimb skeleton phenotype",
- "absent forelimb endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "central nervous system myelination",
- "long bone phenotype",
- "size of eyeball of camera-type eye phenotype",
- "Abnormal nervous system physiology",
- "absent bone element",
- "increased width of anatomical structure",
- "nasal bridge phenotype",
- "Abnormal social behavior",
- "zeugopodial skeleton",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "absent forelimb long bone in the forelimb",
- "absent abdominal segment element",
- "skeleton of lower jaw phenotype",
- "Abnormal affect",
- "absent bone of free limb or fin",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Aplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "Aplasia/Hypoplasia involving bones of the skull",
- "absent limb endochondral element in the limb",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "flat anatomical entity",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "mouth morphology phenotype",
- "absent limb bone in the forelimb",
- "renal system",
- "absent mesoderm-derived structure in the multicellular organism",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "biological_process phenotype",
- "orifice atresia",
- "Craniofacial cleft",
- "Tracheoesophageal fistula",
- "female reproductive system morphology phenotype",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "number of anatomical enitites of type organ component layer phenotype",
- "Hypermelanotic macule",
- "hindbrain",
- "skull phenotype",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
"decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "autopodial extension",
- "reproductive system phenotype",
- "absent forelimb bone",
- "endochondral element",
- "absent multicellular anatomical structure in the head",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
+ "ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
+ "central nervous system myelination phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
"nervous system development",
- "Abnormal tracheobronchial morphology",
- "Microtia",
- "absent arm bone",
- "limb long bone phenotype",
- "forelimb zeugopod",
- "number of anatomical enitites of type endochondral bone phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "absent radius endochondral element in the forelimb",
- "absent mesoderm-derived structure in the forelimb",
- "facial bone",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of pectoral complex morphology phenotype",
- "absent compound organ",
- "intramembranous bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "aplasia or hypoplasia of manual digit",
- "absent organ in the forelimb",
- "Abnormal social development",
- "absent bone element in the forelimb",
- "intramembranous bone",
- "absent bone of pectoral complex",
- "Abnormality of the female genitalia",
- "bone of pectoral complex",
- "bone of free limb or fin",
- "decreased qualitatively behavior",
- "forelimb zeugopod skeleton",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "Abnormal penis morphology",
- "forelimb",
- "absent limb endochondral element",
- "digit 1 or 5",
- "Intrauterine growth retardation",
- "aplasia or hypoplasia of radius bone",
"myelination",
- "Abnormal metencephalon morphology",
- "number of anatomical enitites of type organ phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "trunk region element",
- "forelimb long bone phenotype",
- "Cognitive impairment",
- "absent radius bone",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "Abnormal forearm morphology",
- "vertebral column",
- "increased number of anatomical entity",
- "absent anatomical structure",
- "arm bone",
- "ear",
- "dermatocranium",
- "subdivision of oviduct phenotype",
- "Abnormal palate morphology",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
+ "oligodendrocyte differentiation",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
+ "anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "absent multicellular anatomical structure in the renal system",
+ "absent abdomen element in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
+ "absent material anatomical entity in the renal system",
+ "absent cavitated compound organ",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
+ "absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
+ "abdomen element phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "skin of body",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
"Abnormal erythrocyte morphology",
- "absent multicellular anatomical structure",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "number of anatomical enitites of type bone element phenotype",
- "forelimb zeugopod bone",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
+ "increased size of the non-material anatomical boundary",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
+ "flat anatomical entity",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
+ "anatomical wall",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
"brain ventricle",
- "pectoral appendage",
- "bone element",
- "absent anatomical entity in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "delayed growth",
- "embryo development phenotype",
- "decreased rate of behavior process",
- "vestibulo-auditory system",
- "absent material anatomical entity in the multicellular organism",
- "behavior process",
- "external ear hypoplasia",
- "segment of manus",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeletal system",
- "absent anatomical entity",
- "acropodium region",
- "sacral region",
- "arm",
- "skeleton of limb phenotype",
- "anatomical conduit",
- "closing of the organ part",
- "number of anatomical enitites of type trunk region element phenotype",
- "male reproductive organ phenotype",
- "decreased biological_process",
- "Absent radius",
- "female organism phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "absent anatomical structure in the ear",
- "manual digit 1 or 5",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "developmental process phenotype",
- "Abnormal myelination",
- "Finger aplasia",
- "Abnormal gastrointestinal tract morphology",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "non-connected functional system",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
"secondary palate",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "shape anatomical entity",
- "forelimb skeleton",
- "trunk or cervical vertebra",
- "Low-set ears",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "absent bone of free limb or fin in the limb",
- "location of anatomical entity phenotype",
- "absent anatomical structure in the limb",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Abnormal location of ears",
- "Abnormality of the outer ear",
- "forelimb zeugopod phenotype",
- "esophagus",
- "vestibulo-auditory system phenotype",
- "limb segment phenotype",
- "forelimb endochondral element phenotype",
- "autopod region phenotype",
- "mandible morphology phenotype",
- "Abnormal respiratory system physiology",
- "musculature",
- "subdivision of organism along main body axis",
- "Talipes equinovarus",
- "craniocervical region phenotype",
- "pelvic region element phenotype",
- "Hypertelorism",
- "absent anatomical entity in the multicellular organism",
- "absent anatomical entity in the female reproductive system",
- "metabolic process",
- "shape of external ear phenotype",
- "autopodial extension phenotype",
- "decreased multicellular organismal process",
- "Abnormality of head or neck",
- "sensory system",
- "digit phenotype",
- "posterior region of body",
- "increased length of the non-material anatomical boundary",
- "anatomical structure physiology phenotype",
- "Decreased anatomical entity position",
- "Aplasia involving bones of the upper limbs",
- "hindlimb phenotype",
- "continuant",
+ "oral cavity",
+ "orifice",
"Abnormality of the face",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "endochondral element phenotype",
- "multicellular anatomical structure atresia",
- "absent forelimb long bone",
- "craniocervical region",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "head morphology phenotype",
- "immune system phenotype",
- "entire sense organ system",
- "organ subunit",
- "immaterial entity",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "bone of free limb or fin phenotype",
- "pelvic complex",
- "regulation of biosynthetic process",
- "multicellular anatomical structure phenotype",
- "oviduct",
- "reproductive organ",
- "increased width of nasal bridge",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
+ "renal system",
"midface phenotype",
- "organ",
- "dermatocranium phenotype",
- "digit 1 or 5 phenotype",
- "system",
- "programmed DNA elimination",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "Abnormally increased volition",
- "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
+ "organ subunit",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "Abnormal hindbrain morphology",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
"decreased anatomical structure development",
- "lateral structure phenotype",
- "Abnormal morphology of female internal genitalia",
- "quality",
- "leg",
- "organ system subdivision phenotype",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
+ "segmental subdivision of nervous system",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
"homeostatic process",
- "manual digit phenotype",
- "mouth",
- "Abnormality of the urinary system",
- "face phenotype",
- "dermal bone phenotype",
- "vertebra",
- "cerebrospinal fluid",
- "specifically dependent continuant",
- "digitopodium region",
- "absent bone element in the limb",
- "trachea",
- "anatomical system",
- "Positional foot deformity",
- "Wide nasal bridge",
- "Bilateral talipes equinovarus",
- "social inhibition",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased qualitatively biological_process",
- "pes",
- "absent organ",
- "process",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "arm bone phenotype",
- "Abnormal morphology of the radius",
- "cell differentiation",
- "Decreased external ear position",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "paired limb/fin phenotype",
- "dermal skeleton phenotype",
- "paired limb/fin segment phenotype",
- "cervical vertebra",
- "compound organ",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "anatomical system phenotype",
- "Eukaryota",
- "brain ventricle morphology phenotype",
- "skeletal system morphology phenotype",
- "lower limb segment",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "head bone phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Talipes",
- "decreased size of the anatomical structure",
- "location of ear phenotype",
- "phenotypic effect",
- "closing of the anatomical structure",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "cranial skeletal system",
- "Microphthalmia",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Aplasia involving forearm bones",
- "organ part atresia",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
"Abnormality of the digestive system",
- "closing of the thoracic segment organ",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
"anatomical entity atresia",
- "myeloid cell",
- "skeletal system phenotype",
- "forelimb morphology phenotype",
- "Aplasia/Hypoplasia of the ear",
- "head phenotype",
- "anatomical entity",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
+ "tube",
+ "thoracic cavity element",
+ "genitourinary system",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
"mesoderm-derived structure phenotype",
- "anterior region of body",
- "absent material anatomical entity",
- "cognition",
- "sensation behavior",
- "closing of the subdivision of tube",
- "Abnormal oral cavity morphology",
- "limb skeleton subdivision",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "midface",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
"Delayed myelination",
- "Abnormality of limb bone",
- "external ear",
- "Absent forearm bone",
- "lower jaw region",
- "pes phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "All",
- "tube",
- "subdivision of tube phenotype",
- "cervical vertebra phenotype",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "primary subdivision of skull phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "appendage phenotype",
- "growth phenotype",
- "absent multicellular anatomical structure in the limb",
- "Abnormal ear morphology",
- "facial bone hypoplasia",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
+ "cellular process",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
"skeletal element phenotype",
- "Aplasia/Hypoplasia of the mandible",
- "zeugopod",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "mandible",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "limb segment",
- "female reproductive organ",
- "musculoskeletal system",
- "pelvic appendage",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "hindlimb morphology phenotype",
- "regulation of macromolecule metabolic process",
- "absent endochondral element in the forelimb",
- "organ atresia",
- "absent mesoderm-derived structure in the limb",
- "Renal agenesis",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
+ "upper urinary tract",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
"absent trunk region element in the multicellular organism",
- "thoracic cavity element atresia",
- "forelimb endochondral element",
- "craniofacial/craniocervical phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "organism subdivision",
- "absent anatomical entity in the reproductive system",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "behavior",
- "leg phenotype",
- "male reproductive system",
- "organism subdivision phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "nose tip morphology phenotype",
- "anatomical entity phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "nose tip phenotype",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "forelimb phenotype",
- "absent bone of appendage girdle complex",
- "internal female genitalia morphology phenotype",
- "external ear morphology phenotype",
- "oxygen accumulating cell",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "absent long bone in the forelimb",
- "tube phenotype",
- "primary subdivision of skull",
- "subdivision of organism along main body axis phenotype",
- "body proper",
- "musculature of body phenotype",
- "nasal bridge",
- "Short attention span",
- "Growth abnormality",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
"bone of jaw",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "long bone morphology phenotype",
- "postcranial axial skeleton",
- "anatomical conduit phenotype",
- "digestive tract",
- "skeleton of limb",
- "ocular adnexa phenotype",
- "Reduced social responsiveness",
- "Bone marrow hypocellularity",
- "absent multicellular anatomical structure in the forelimb",
- "Anemia",
- "number of anatomical enitites of type anatomical structure phenotype",
- "absent forelimb endochondral element in the forelimb",
- "axial skeletal system",
- "Abnormality of the mouth",
- "facial skeleton morphology phenotype",
- "Abnormal pinna morphology",
- "organ part phenotype",
- "dermal skeleton",
- "cerebellum morphology phenotype",
- "Abnormality of the kidney",
- "bone of lower jaw",
- "phenotype",
- "dermal skeletal element",
- "face morphology phenotype",
- "regional part of nervous system phenotype",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
"subdivision of trunk",
- "membrane bone",
- "ear morphology phenotype",
- "organ component layer",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "intromittent organ",
- "anus morphology phenotype",
- "bone of craniocervical region",
- "Cleft palate",
- "absent bone of appendage girdle complex in the limb",
- "Hyperactivity",
- "subdivision of digestive tract phenotype",
- "radius endochondral element",
- "anatomical collection",
- "limb bone",
- "camera-type eye phenotype",
- "absent forelimb bone in the forelimb",
- "ear phenotype",
- "mouth phenotype",
- "autopod region morphology phenotype",
- "bone element hypoplasia in face",
- "embryo development",
- "increased width of anatomical entity",
- "location of external ear phenotype",
- "multicellular organism",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
"dermal skeletal element phenotype",
- "bone of lower jaw phenotype",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "Abnormal foot morphology",
- "skeleton of lower jaw",
- "anatomical structure development",
- "bodily fluid phenotype",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "cerebrospinal fluid morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "absent bone of pectoral complex in the limb",
- "digestive system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "tracheobronchial tree",
- "number of anatomical enitites of type skeletal element phenotype",
- "decreased size of the material anatomical entity",
- "absent multicellular anatomical structure in the ear",
- "jaw skeleton morphology phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
"negative regulation of cellular process",
- "Abnormal oral morphology",
- "vertebra phenotype",
- "aplastic anatomical entity",
- "bone of dorsum",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "Abnormal jaw morphology",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "organism substance phenotype",
- "absent long bone",
- "irregular bone phenotype",
- "anatomical entity hypoplasia",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "absent limb long bone",
- "dentary phenotype",
- "neck bone",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "decreased social inhibition",
- "hindbrain morphology phenotype",
- "cranial skeletal system phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "external soft tissue zone",
- "digestive system element phenotype",
- "pes morphology phenotype",
- "zeugopod phenotype",
- "postcranial axial skeleton phenotype",
- "digestive system morphology phenotype",
- "nervous system",
- "jaw region",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
"Abnormal neck morphology",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Aplasia/Hypoplasia of facial bones",
- "mandible phenotype",
- "organ phenotype",
- "absent subdivision of tube in the female reproductive system",
- "skeleton",
- "internal genitalia phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "absent abdominal segment element in the renal system",
- "subdivision of skeleton phenotype",
- "mandible hypoplasia",
- "Abnormal axial skeleton morphology",
- "facial bone phenotype",
- "Abnormality of chromosome stability",
- "occurrent",
- "anatomical collection phenotype",
- "respiratory tract",
- "skeleton phenotype",
- "absent bone of pectoral complex in the forelimb",
- "paired limb/fin skeleton",
- "absent manual digit",
- "external nose phenotype",
- "Abnormal digit morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
"negative regulation of metabolic process phenotype",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
"autopodial skeleton",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "Abnormal sacrum morphology",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "main body axis",
- "Abnormal cerebrospinal fluid morphology",
- "external nose morphology phenotype",
- "aplasia or hypoplasia of fused sacrum",
- "Absent thumb",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
"anatomical entity morphology in the manus phenotype",
- "digestive system physiology phenotype",
- "male reproductive organ",
- "manual digit 1 morphology phenotype",
- "Abnormal nasal bridge morphology",
- "immaterial anatomical entity",
- "visual system phenotype",
- "multicellular organism phenotype",
- "eyeball of camera-type eye phenotype",
- "Macule",
- "eyeball of camera-type eye",
- "eye phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "material entity",
- "material anatomical entity atresia",
- "vision/eye phenotype",
- "bone marrow cell",
- "simple eye phenotype",
- "blood cell phenotype",
- "orbital region phenotype",
- "absent anatomical entity in the renal system",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
"aplasia or hypoplasia of eyeball of camera-type eye",
- "Aplasia/hypoplasia involving forearm bones",
- "Aplasia/Hypoplasia of the sacrum",
- "decreased size of the ectoderm-derived structure",
- "cerebellum hypoplasia",
- "camera-type eye",
- "Morphological central nervous system abnormality",
- "visual system",
- "ectoderm-derived structure atresia",
- "nose morphology phenotype",
- "decreased size of the sense organ",
- "size of anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent external ear in the head",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "Aplasia/Hypoplasia of the external ear",
- "regulation of metabolic process phenotype",
- "anatomical structure",
- "absent anatomical structure in the head",
- "number of anatomical enitites of type lateral structure phenotype",
- "Anotia",
- "aplasia or hypoplasia of skull",
- "increased size of the anatomical line",
- "absent anatomical entity in the ear",
- "absent subdivision of head in the head",
- "trunk bone",
- "subdivision of organism along appendicular axis phenotype",
- "absent anatomical entity in the head",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "absent lateral structure in the head",
- "Neurodevelopmental abnormality",
- "anatomical wall phenotype",
- "absent external ear",
- "increased biological_process",
- "absent subdivision of head",
- "absent organism subdivision in the head",
- "aplasia or hypoplasia of ear",
- "bony pelvis",
- "axial skeleton plus cranial skeleton phenotype",
- "vertebral column phenotype",
- "trunk region element phenotype",
- "fused sacrum",
- "pelvic region element",
- "abdominal segment bone",
- "sacral region of vertebral column",
- "abdominal segment of trunk",
- "sacral region of vertebral column phenotype",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "absent digit",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
"aplasia or hypoplasia of vertebral column",
- "fused sacrum hypoplasia",
- "bone of dorsum phenotype",
- "viscus",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "dorsum",
- "trunk",
- "fused sacrum phenotype",
- "Hypoplastic sacrum",
- "abdominal segment element phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "subdivision of trunk phenotype",
- "Aplasia/Hypoplasia involving the vertebral column",
- "limb bone phenotype",
- "thoracic segment organ phenotype",
- "dorsal region element",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "trunk bone phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Abnormality of the vertebral column",
- "trunk phenotype",
- "midface morphology phenotype",
- "absent anatomical structure in the female reproductive system",
- "reproductive structure",
- "uterus",
- "increased pigmentation",
- "Abnormal cell morphology",
- "internal genitalia",
- "bone of craniocervical region phenotype",
- "autopod region",
- "aplasia or hypoplasia of uterus",
- "Chromosome breakage",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
"increased number of anatomical structure in the cerebrospinal fluid",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "absent uterus in the female reproductive system",
- "Abnormal internal genitalia",
- "reproductive organ phenotype",
- "Aplasia/hypoplasia of the uterus",
- "manus",
- "absent reproductive structure",
- "increased biological_process in skin of body",
- "genitourinary system phenotype",
- "increased number of brain ventricle/choroid plexus",
- "facial skeleton",
- "Aplasia of the uterus",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
"neurogenesis",
- "regulation of cellular biosynthetic process phenotype",
- "cerebellum phenotype",
- "oviduct phenotype",
- "female reproductive system",
- "absent multicellular anatomical structure in the female reproductive system",
- "number of anatomical enitites of type organ part phenotype",
- "simple eye",
- "number of anatomical enitites of type reproductive structure phenotype",
- "penis",
- "absent digit",
- "female reproductive organ morphology phenotype",
- "ventricle of nervous system phenotype",
- "subdivision of oviduct",
- "increased number of organ component layer",
- "absent organ part",
- "number of anatomical enitites of type subdivision of tube phenotype",
- "internal female genitalia",
- "absent anatomical structure in the reproductive system",
- "jaw skeleton",
- "penis phenotype",
- "Abnormality of the genitourinary system",
- "Abnormality of the uterus",
- "shape nose tip",
- "absent multicellular anatomical structure in the reproductive system",
- "reproductive structure phenotype",
- "paired limb/fin",
- "Hypoplastic male external genitalia",
- "regulation of gene expression phenotype",
- "absent organ part in the female reproductive system",
- "absent subdivision of oviduct",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
"system process",
- "brain ventricle/choroid plexus phenotype",
- "increased length of the anatomical entity",
- "absent reproductive structure in the reproductive system",
- "absent mesoderm-derived structure",
- "absent subdivision of tube",
- "genitourinary system",
- "appendage girdle complex",
- "uterus phenotype",
- "Global developmental delay",
- "absent subdivision of oviduct in the female reproductive system",
- "pelvic region of trunk",
- "absent material anatomical entity in the female reproductive system",
- "Reduced attention regulation",
- "reproductive system morphology phenotype",
- "manual digit",
- "vertebral element phenotype",
- "increased width of ectoderm-derived structure",
- "Abnormality of the genital system",
- "cervical region",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "pectoral complex",
- "cervical region of vertebral column",
- "decreased qualitatively developmental process",
- "Aplasia/Hypoplasia of the cerebellum",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
"Abnormal tracheal morphology",
- "neck morphology phenotype",
- "decreased length of anatomical entity",
- "subdivision of head phenotype",
- "Hydrocephalus",
- "decreased length of multicellular anatomical structure",
- "Depressed nasal tip",
- "aplasia or hypoplasia of cerebellum",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "neck bone phenotype",
- "Abnormality of the cervical spine",
- "absent forelimb bone in the limb",
- "decreased length of anatomical structure",
- "decreased length of organism subdivision",
- "Short neck",
- "Neurodevelopmental delay",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "obsolete cell",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "negative regulation of macromolecule metabolic process",
- "regulation of cellular biosynthetic process",
- "behavior phenotype",
- "Abnormal hindbrain morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "programmed DNA elimination by chromosome breakage",
- "segmental subdivision of nervous system",
- "Abnormal eyelid morphology",
- "aplasia or hypoplasia of external ear",
- "anatomical point",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "biological regulation",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "negative regulation of gene expression",
- "cell phenotype",
- "pectoral appendage phenotype",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "male organism",
- "Abnormal cellular phenotype",
- "palpebral fissure phenotype",
- "upper urinary tract phenotype",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
"cognitive behavior",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of metabolic process",
- "brain",
- "cell",
- "absent endochondral element in the limb",
- "Abnormal esophagus morphology",
- "anatomical point phenotype",
- "thoracic cavity element phenotype",
- "oral cavity phenotype",
- "increased number of ectoderm-derived structure",
- "Abnormality of globe size",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
"closing of the material anatomical entity",
- "esophagus phenotype",
- "Esophageal atresia",
- "immaterial anatomical entity phenotype",
- "subdivision of vertebral column phenotype",
- "trunk region element atresia",
- "axon ensheathment phenotype",
- "irregular bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "esophagus atresia",
- "closing of the trunk region element",
- "viscus phenotype",
- "absent lateral structure",
- "esophagus morphology phenotype",
- "olfactory organ",
- "cellular process phenotype",
- "number of anatomical enitites of type kidney phenotype",
- "absent trunk region element",
- "closing of the organ",
- "alimentary part of gastrointestinal system atresia",
- "absent skeletal element",
- "thoracic segment organ atresia",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "respiratory system phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "Recurrent maladaptive behavior",
- "absent material anatomical entity in the ear",
- "closing of the anatomical system",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of tube atresia",
- "closing of the multicellular anatomical structure",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "alimentary part of gastrointestinal system phenotype",
- "alimentary part of gastrointestinal system",
- "Abnormality of digestive system physiology",
- "Abdominal symptom",
- "Feeding difficulties",
- "central nervous system phenotype",
- "multi-tissue structure",
- "central nervous system",
- "Cerebellar hypoplasia",
- "lateral structure",
- "erythrocyte morphology phenotype",
- "metencephalon",
- "organism",
- "structure with developmental contribution from neural crest",
- "primary subdivision of cranial skeletal system",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "respiratory system morphology phenotype",
- "segment of autopod",
- "decreased size of the organism subdivision",
- "Metazoa",
- "segmental subdivision of hindbrain phenotype",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
"Abnormal nervous system morphology",
- "root",
- "digit",
- "nose phenotype",
- "axial skeleton plus cranial skeleton",
- "external nose",
- "upper digestive tract",
- "external genitalia phenotype",
- "Opisthokonta",
- "Abnormal skeletal morphology",
- "Eumetazoa",
- "forelimb long bone",
- "female organism",
- "brain morphology phenotype",
- "Abnormal external nose morphology",
- "cellular organisms",
- "hindbrain phenotype",
- "Webbed neck",
- "eye",
- "Abnormal brain morphology",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "Abnormal nasal morphology",
- "nose",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "pigmentation",
- "increased size of the anatomical structure",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "respiratory airway",
+ "membrane bone",
+ "pectoral appendage",
+ "trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
+ "bone of free limb or fin phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "zeugopod",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
"increased size of the anatomical entity",
- "absent anatomical structure in the skeletal system",
- "increased width of material anatomical entity",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "nasal bridge morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "pigmentation phenotype",
+ "anatomical conduit",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
"delayed axon ensheathment",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "Renal hypoplasia",
- "snout",
- "snout morphology phenotype",
- "internal female genitalia phenotype",
"anatomical line",
- "Abnormal limb bone morphology",
- "olfactory organ phenotype",
- "incomplete closing of the anatomical entity",
- "secondary palate morphology phenotype",
- "kidney",
- "hindlimb",
- "incomplete closing of the anatomical structure",
- "flattened anatomical entity",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "oral cavity",
- "neural crest-derived structure",
- "incomplete closing of the secondary palate",
- "appendicular skeleton",
- "skeletal system",
- "organ component layer phenotype",
- "roof of mouth",
- "biological regulation phenotype",
- "digestive system",
- "anatomical space phenotype",
- "delayed biological_process",
- "anatomical space",
- "incomplete closing of the multi-tissue structure",
- "incomplete closing of the neural crest-derived structure",
- "anatomical cavity",
- "manual digitopodium region",
- "incomplete closing of the roof of mouth",
- "Delayed CNS myelination",
- "neck phenotype",
- "opening of the anatomical entity",
- "incomplete closing of the ectoderm-derived structure",
- "Micropenis",
- "penis hypoplasia",
- "eyelid morphology phenotype",
- "External genital hypoplasia",
- "Abnormality of the male genitalia",
- "Hypoplasia of penis",
- "Abnormal respiratory system morphology",
- "compound organ phenotype",
- "respiratory tube",
- "increased number of brain ventricle",
- "lower respiratory tract",
- "proximo-distal subdivision of respiratory tract",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
+ "forelimb phenotype",
"Abnormality of the respiratory system",
- "endoderm-derived structure",
- "proximo-distal subdivision of respiratory tract phenotype",
- "tissue",
- "absent organ in the renal system",
- "Abnormality of blood and blood-forming tissues",
- "Abnormality of the immune system",
- "closing of the anatomical conduit",
- "immune system",
- "bone cell",
- "hemolymphoid system",
- "regulation of cellular process",
- "hematopoietic system",
- "increased number of multicellular anatomical structure",
- "increased number of organ component layer in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "brain ventricle/choroid plexus",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "transudate",
- "increased number of material anatomical entity",
- "organ system subdivision",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "upper limb segment",
- "increased number of anatomical structure",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "brain ventricle phenotype",
- "erythroid lineage cell morphology phenotype",
- "cerebrospinal fluid phenotype",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "pelvic appendage phenotype",
- "absent radius bone in the forelimb",
- "bodily fluid",
- "metencephalon morphology phenotype",
- "increased number of organ part",
- "organ part",
- "external soft tissue zone phenotype",
- "Abnormal nasal tip morphology",
- "nose tip",
- "non-material anatomical boundary phenotype",
- "increased length of the anatomical line",
- "increased length of the immaterial anatomical entity",
- "ocular adnexa",
- "anatomical line between pupils",
- "location of eyeball of camera-type eye phenotype",
- "non-material anatomical boundary",
- "negative regulation of biological process phenotype",
- "anatomical line phenotype",
- "Abnormality of globe location",
- "increased size of the immaterial anatomical entity",
- "regulation of cellular metabolic process",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "closing of the anatomical structure",
+ "multi-limb segment region",
+ "multicellular anatomical structure atresia",
"external male genitalia hypoplasia",
- "blood cell",
- "absent endochondral bone",
- "erythrocyte",
- "system development",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "integumental system phenotype",
- "Anal atresia",
- "increased qualitatively biological_process",
- "Abnormality of skin pigmentation",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "paired limb/fin skeleton phenotype",
- "Orofacial cleft",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin"
- ],
- "has_phenotype_count": 36,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0010953",
- "category": "biolink:Disease",
- "name": "Fanconi anemia complementation group E",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
- "xref": [
- "DOID:0111084",
- "GARD:15324",
- "MEDGEN:463628",
- "NCIT:C125709",
- "OMIM:600901",
- "UMLS:C3160739"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "FANCE",
- "FANCE Fanconi anaemia",
- "FANCE Fanconi anemia",
- "Fanconi Anemia, complementation group type E",
- "Fanconi anaemia caused by mutation in FANCE",
- "Fanconi anaemia complementation group type E",
- "Fanconi anemia caused by mutation in FANCE",
- "Fanconi anemia complementation group E",
- "Fanconi anemia complementation group type E",
- "Fanconi anemia, complementation group E",
- "face"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0000104",
- "HP:0001875",
- "HP:0001017",
- "HP:0001876",
- "HP:0000028",
- "HP:0003974",
- "HP:0001873",
- "HP:0009778",
- "HP:0001896",
- "HP:0009777",
- "HP:0000568",
- "HP:0001518",
- "HP:0001263",
- "HP:0003221",
- "HP:0000252",
- "HP:0001249",
- "HP:0009943",
- "HP:0000978",
- "HP:0001627",
- "HP:0000953",
- "HP:0000957",
- "HP:0001903",
- "HP:0000815",
- "HP:0001909",
- "HP:0000081",
- "HP:0000086",
- "HP:0004322",
- "HP:0000486",
- "HP:0000365",
- "HP:0003214",
- "HP:0003213",
- "HP:0000085"
- ],
- "has_phenotype_label": [
- "Renal agenesis",
- "Neutropenia",
- "Anemic pallor",
- "Pancytopenia",
- "Cryptorchidism",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
"Absent radius",
- "Thrombocytopenia",
- "Short thumb",
- "Reticulocytopenia",
- "Absent thumb",
- "Microphthalmia",
- "Small for gestational age",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Intellectual disability",
- "Complete duplication of thumb phalanx",
- "Bruising susceptibility",
- "Abnormal heart morphology",
- "Hyperpigmentation of the skin",
- "Cafe-au-lait spot",
- "Anemia",
- "Hypergonadotropic hypogonadism",
- "Leukemia",
- "Duplicated collecting system",
- "Ectopic kidney",
- "Short stature",
- "Strabismus",
- "Hearing impairment",
- "Prolonged G2 phase of cell cycle",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "Horseshoe kidney"
- ],
- "has_phenotype_closure": [
- "UPHENO:0041226",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "GO:0033554",
- "UPHENO:0049990",
- "UPHENO:0049873",
- "UPHENO:0049588",
- "GO:0006259",
- "UPHENO:0049720",
- "GO:0090304",
- "GO:0006281",
- "HP:0003254",
- "UPHENO:0049964",
- "UPHENO:0050116",
- "UPHENO:0049671",
- "GO:0044238",
- "GO:0051325",
- "HP:0011018",
- "GO:0022403",
- "GO:0044848",
- "GO:0009987",
- "UPHENO:0049952",
- "UBERON:0001690",
- "UPHENO:0005518",
- "UPHENO:0003412",
- "UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002240",
- "UPHENO:0002903",
- "UBERON:0002105",
- "UPHENO:0005517",
- "HP:0031704",
- "GO:0007605",
- "UPHENO:0050106",
- "UBERON:0010222",
- "NBO:0000313",
- "UPHENO:0002301",
- "UPHENO:0002352",
- "UPHENO:0079826",
- "HP:0012373",
- "HP:0000496",
- "UBERON:0000466",
- "UPHENO:0002211",
- "HP:0000708",
- "HP:0000549",
- "UPHENO:0049652",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "HP:0001510",
- "HP:0004322",
- "UPHENO:0053588",
- "HP:0000086",
- "HP:0000081",
- "HP:0004742",
- "UPHENO:0075787",
- "HP:0002664",
- "HP:0011793",
- "UPHENO:0066903",
- "UPHENO:0024906",
- "UPHENO:0066927",
- "HP:0008373",
- "UPHENO:0003116",
- "UPHENO:0066913",
- "UPHENO:0066945",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0002381",
- "UBERON:0000949",
- "GO:0007610",
- "UPHENO:0066902",
- "HP:0100542",
- "UPHENO:0053612",
- "UPHENO:0002323",
- "UPHENO:0066972",
- "UPHENO:0002206",
- "UPHENO:0075159",
- "UPHENO:0066925",
- "HP:0001903",
- "HP:0001034",
- "HP:0000957",
- "UPHENO:0074584",
- "UPHENO:0050008",
- "UPHENO:0080662",
- "UPHENO:0076810",
- "UPHENO:0076776",
- "UPHENO:0004827",
- "UBERON:0015228",
- "UPHENO:0004469",
- "HP:0007400",
- "UPHENO:0003084",
- "UPHENO:0004831",
- "UBERON:0000915",
- "UBERON:0015410",
- "HP:0011354",
- "HP:0003214",
- "UPHENO:0079828",
- "MPATH:0",
- "HP:0002597",
- "UPHENO:0004507",
- "UPHENO:0003086",
- "MPATH:603",
- "UPHENO:0002576",
- "HP:0004377",
- "UBERON:0000948",
- "MPATH:119",
- "UBERON:0015025",
- "HP:0009942",
- "UBERON:0011250",
- "MPATH:105",
- "UBERON:5101463",
- "HP:0001933",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "HP:0004275",
- "UBERON:0004249",
- "UBERON:0010543",
- "UPHENO:0066905",
- "HP:0005918",
- "UBERON:0003620",
- "UBERON:0012358",
- "HP:0009943",
- "GO:0050877",
- "HP:0001249",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0076702",
- "UPHENO:0004704",
- "HP:0012443",
- "HP:0007364",
- "HP:0009121",
- "UPHENO:0053633",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:0050019",
- "UBERON:0002090",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UBERON:0002616",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0005944",
- "UBERON:0004535",
- "UBERON:0011137",
- "UBERON:0000481",
- "NCBITaxon:33154",
- "UPHENO:0053643",
- "HP:0100547",
- "UPHENO:0076791",
- "HP:0002060",
- "UPHENO:0004621",
- "HP:0012639",
- "UPHENO:0003004",
- "UBERON:0001890",
- "UPHENO:0053610",
- "GO:0048523",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "NBO:0000444",
- "UPHENO:0050007",
- "UBERON:0007798",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "HP:0009997",
- "GO:0010556",
- "GO:0009890",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0000953",
- "GO:0065007",
- "GO:0042592",
- "UPHENO:0050778",
- "NBO:0000338",
- "UPHENO:0002269",
- "UPHENO:0082875",
- "UPHENO:0002433",
- "HP:0009142",
- "HP:0012758",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "UPHENO:0002267",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "UPHENO:0049874",
- "BFO:0000015",
- "NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0005437",
- "HP:0001518",
- "GO:0008150",
- "UPHENO:0002378",
- "UPHENO:0010808",
- "UPHENO:0051124",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "HP:0001507",
- "UPHENO:0075997",
- "UBERON:0001032",
- "UPHENO:0069523",
- "UPHENO:0069064",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UBERON:0012357",
- "UPHENO:0086589",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "HP:0012372",
- "UPHENO:0002678",
- "HP:0008056",
- "UPHENO:0080209",
- "UPHENO:0005433",
- "UPHENO:3000007",
- "UBERON:0000970",
- "UBERON:0001456",
- "HP:0000085",
- "UBERON:0004088",
- "GO:0050896",
- "HP:0000271",
- "UPHENO:0069161",
- "UPHENO:0004757",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0068914",
- "HP:0000234",
- "UBERON:0000033",
- "UBERON:0010230",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "UBERON:0007811",
- "UBERON:0004456",
- "HP:0002977",
- "UPHENO:0002553",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0009146",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0008604",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "HP:0000478",
- "HP:0010461",
- "UPHENO:0005025",
- "UBERON:0015024",
- "UPHENO:0053559",
- "UBERON:0011138",
- "CL:0000738",
- "UPHENO:0002685",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UPHENO:0011548",
- "HP:0000028",
- "UPHENO:0077399",
- "UPHENO:0053572",
- "HP:0011873",
- "UPHENO:0003056",
- "UPHENO:0002940",
- "HP:0001873",
- "UBERON:0000079",
- "CL:0000457",
- "HP:0000811",
- "UBERON:0011584",
- "UPHENO:0084448",
- "UPHENO:0049586",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0025661",
- "UPHENO:0088170",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0049587",
- "HP:0001574",
- "UBERON:0002193",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011446",
- "HP:0010974",
- "UPHENO:0025544",
- "UBERON:0005451",
- "UBERON:0004053",
- "UPHENO:0025545",
- "UPHENO:0046750",
- "UPHENO:0053644",
- "UPHENO:0003050",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "HP:0011314",
- "HP:0004323",
- "HP:0001017",
- "HP:0032251",
- "HP:0011893",
- "UPHENO:0086633",
- "HP:0001911",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "UBERON:0001444",
- "UBERON:0005177",
- "GO:0051319",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0010000",
- "UPHENO:0077391",
- "HP:0001874",
- "UPHENO:0086176",
- "UPHENO:0009382",
- "HP:0001875",
- "UBERON:0000015",
- "CL:0000094",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0001872",
- "HP:0002817",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0008640",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0008743",
- "UPHENO:0088166",
- "GO:0050890",
- "HP:0009381",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "UPHENO:0025176",
- "UBERON:0002204",
- "HP:0000077",
- "UBERON:0001008",
- "UPHENO:0027017",
- "UBERON:0000465",
- "HP:0009115",
- "MPATH:1000",
- "CL:0001035",
- "UPHENO:0002909",
- "HP:0000815",
- "UPHENO:0063794",
- "GO:0043170",
- "CL:0000219",
- "CL:0000988",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UPHENO:0049699",
- "UPHENO:0002554",
- "UBERON:0002097",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0009344",
- "UPHENO:0008593",
- "UPHENO:0002430",
- "UBERON:0005156",
- "UBERON:0012475",
- "HP:0020047",
- "UPHENO:0009356",
- "UPHENO:0002642",
- "HP:0100887",
- "CL:0002242",
- "UBERON:0005173",
- "UBERON:0004381",
- "GO:0031049",
- "HP:0009822",
- "UPHENO:0077418",
- "HP:0011297",
- "UPHENO:0009021",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0012440",
- "UPHENO:0050121",
- "UPHENO:0003811",
- "UPHENO:0026504",
- "GO:0009889",
- "UPHENO:0011559",
- "UBERON:0010703",
- "UPHENO:0002536",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0025811",
- "UPHENO:0025211",
- "GO:0040007",
- "UPHENO:0077348",
- "BFO:0000001",
- "CL:0000329",
- "HP:0000001",
- "UPHENO:0012308",
- "UPHENO:0004802",
- "UPHENO:0025631",
- "UPHENO:0026630",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0007272",
- "UPHENO:0053647",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0026098",
- "UPHENO:0002944",
- "CL:0000233",
- "UPHENO:0002751",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0027014",
- "UBERON:0012150",
- "UPHENO:0002754",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0086700",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "CL:0000232",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0002403",
- "UBERON:0003135",
- "UBERON:0002390",
- "UPHENO:0002526",
- "UPHENO:0011498",
- "HP:0001627",
- "UBERON:0002371",
- "UBERON:0001474",
- "UPHENO:0002803",
- "GO:0050954",
- "UPHENO:0002816",
- "UBERON:0007100",
- "UBERON:0000468",
- "UBERON:0001434",
- "UBERON:0011818",
- "UPHENO:0003088",
- "UBERON:0004100",
- "UBERON:5102389",
- "UPHENO:0046707",
- "UPHENO:0053563",
- "UPHENO:0069062",
- "UPHENO:0008827",
- "GO:0031327",
- "UBERON:0002199",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "BFO:0000040",
- "UPHENO:0011931",
- "UPHENO:0054304",
- "UBERON:0002091",
- "UPHENO:0026507",
- "UBERON:0002113",
- "UBERON:0010740",
- "UPHENO:0005092",
- "UBERON:8450002",
- "HP:0032309",
- "UBERON:0000383",
- "GO:0043473",
- "HP:0001939",
- "HP:0010987",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:5102544",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "UPHENO:0002682",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "HP:0009823",
- "HP:0001896",
- "HP:0000980",
- "UPHENO:0026309",
- "HP:0040012",
- "UBERON:0002416",
- "UBERON:0015001",
- "HP:0001871",
- "UPHENO:0011572",
- "CL:0000255",
- "NCBITaxon:6072",
- "UPHENO:0011770",
- "UPHENO:0008545",
- "UPHENO:0003094",
- "UPHENO:0025546",
- "UPHENO:0025187",
- "HP:0001155",
- "UPHENO:0011533",
- "GO:0060255",
- "UPHENO:0026074",
- "UPHENO:9002003",
- "GO:0008152",
- "UPHENO:0086002",
- "HP:0012210",
- "UPHENO:0002896",
- "HP:0012759",
- "UPHENO:0085356",
- "UBERON:0000019",
- "CL:0002092",
- "UPHENO:0025553",
- "UPHENO:0002385",
- "HP:0000568",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:5002389",
- "UPHENO:0004521",
- "UPHENO:0025776",
- "UBERON:0000467",
- "UPHENO:0008825",
- "UBERON:0002049",
- "UBERON:0012151",
- "UBERON:0009569",
- "HP:0009602",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0010323",
- "UPHENO:0085354",
- "UPHENO:0075804",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0001001",
- "UPHENO:0076703",
- "GO:0007049",
- "UBERON:0003103",
- "UPHENO:0026980",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "HP:0003953",
- "NBO:0000001",
- "UPHENO:0010799",
- "HP:0012145",
- "UBERON:0013701",
- "UBERON:0011216",
- "UBERON:0000479",
- "UPHENO:0026308",
- "UBERON:0001423",
- "UPHENO:0009209",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0026146",
- "HP:0001892",
- "UBERON:0001436",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0087427",
- "UPHENO:0049703",
- "BFO:0000004",
- "UPHENO:0008487",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "HP:0003974",
- "UPHENO:0009011",
- "UBERON:0011143",
- "UBERON:0003101",
- "UPHENO:0026600",
- "UPHENO:0085344",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UBERON:0005897",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "UPHENO:0002595",
- "UBERON:0010707",
- "UPHENO:0004064",
- "UBERON:0000062",
- "HP:0000035",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000365",
- "UPHENO:0086172",
- "UBERON:0034923",
- "UPHENO:0026227",
- "UPHENO:0082794",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0002523",
- "UPHENO:0088162",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0053580",
- "UPHENO:0010795",
- "UPHENO:0002733",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0010935",
- "UPHENO:0011739",
- "UPHENO:0084763",
- "HP:0025354",
- "HP:0011844",
- "UBERON:0015204",
- "UBERON:0000061",
- "CL:0000225",
- "UPHENO:0008816",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:3000000",
- "UPHENO:0011573",
- "UPHENO:0063722",
- "UPHENO:0026643",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UPHENO:0086016",
- "UPHENO:0086019",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0000026",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0002389",
- "HP:0012243",
- "UPHENO:0041821",
- "HP:0000032",
- "UPHENO:0003055",
- "UPHENO:0026239",
- "UBERON:0015023",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0003213",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "HP:0001876",
- "UPHENO:0026808",
- "MPATH:120",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "UPHENO:0026486",
- "UPHENO:0053566",
- "UBERON:0010538",
- "UBERON:0002075",
- "UPHENO:0002738",
- "PATO:0000001",
- "UPHENO:0081511",
- "UPHENO:0076805",
- "CL:0000775",
- "UPHENO:0025883",
- "UPHENO:0025808",
- "UPHENO:0079876",
- "UPHENO:0082761",
- "UPHENO:0025852",
- "HP:0002011",
- "UPHENO:0011492",
- "HP:0000104",
- "UPHENO:0026095",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0010708",
- "UPHENO:0041075",
- "GO:0006139",
- "UPHENO:0026108",
- "UBERON:0002102",
- "UBERON:0010741",
- "UPHENO:0025508",
- "UBERON:0002471",
- "HP:0000080",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
- "UPHENO:0075219",
- "UPHENO:0009295",
- "UPHENO:0087501",
- "UPHENO:0008703",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UBERON:0003466",
- "UPHENO:0025509",
- "UPHENO:0009366",
- "UPHENO:0002964",
- "UPHENO:0026096",
- "UPHENO:0025135",
- "UBERON:0003221",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "GO:0010468",
- "UBERON:0010758",
- "HP:0011276",
- "UPHENO:0075944",
- "UPHENO:0009341",
- "UPHENO:0046528",
- "UPHENO:0026344",
- "HP:0000978",
- "UPHENO:0008865",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UBERON:0015061",
- "UPHENO:0002650",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0049622",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0006894",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UBERON:0013702",
- "UPHENO:0008709",
- "UPHENO:0025507",
- "HP:0005927",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "UPHENO:0087349",
- "UPHENO:0025587",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0008678",
- "UBERON:0015021",
- "GO:0050789",
- "UPHENO:0025955",
- "UPHENO:0002659",
- "HP:0040068",
- "UBERON:0034925",
- "UPHENO:0025845",
- "UPHENO:0054970",
- "UBERON:0001440",
- "UPHENO:0009115",
- "UBERON:0004765",
- "RO:0002577",
- "UBERON:0010712",
- "HP:0001263",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0025882",
- "UPHENO:0002746",
- "UPHENO:0026813",
- "UPHENO:0086956",
- "HP:0011991",
- "UPHENO:0002593",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0026312",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "HP:0000486",
- "HP:0000079",
- "UPHENO:0081451",
- "UBERON:0003606",
- "HP:0001909",
- "UBERON:0008962",
- "UPHENO:0026023",
- "HP:0011355",
- "UPHENO:0009399",
- "UPHENO:0008475",
- "UPHENO:0002548",
- "UPHENO:0009337",
- "HP:0009998",
- "UPHENO:0026811",
- "UPHENO:0050435",
- "UPHENO:0026128",
- "HP:0000152",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "UPHENO:0025136",
- "UPHENO:0026181",
- "UPHENO:0012274",
- "UPHENO:0002219",
- "UBERON:0000991",
- "UPHENO:0003095",
- "HP:0000598",
- "UPHENO:0003413",
- "UPHENO:0004173",
- "UBERON:0006717",
- "UPHENO:0076718",
- "UPHENO:0076727",
- "HP:0001626",
- "UBERON:0005881",
- "UPHENO:0002945",
- "UPHENO:0025166",
- "UPHENO:0080325",
- "UPHENO:0008430",
- "CL:0000766",
- "HP:0006501",
- "HP:0002715",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0011817",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0026640",
- "UPHENO:0025652",
- "HP:0045060",
- "HP:0009825",
- "HP:0006496",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UPHENO:0080377",
- "UPHENO:0025547",
- "GO:0003008",
- "HP:0011875",
- "UPHENO:0025855",
- "HP:0025461",
- "HP:0002818",
- "GO:0006950",
- "UBERON:0000075",
- "UPHENO:0003227",
- "UPHENO:0026317",
- "UPHENO:0002559",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0026073",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UPHENO:0002983",
- "UPHENO:0081581",
- "UPHENO:0025961",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "HP:0002973",
- "UPHENO:0025497",
- "UPHENO:0002764",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "HP:0030680",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0000818",
- "HP:0004312",
- "UBERON:0019231",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UBERON:0002104",
- "UPHENO:0011568",
- "UPHENO:0046505",
- "UPHENO:0049989",
- "UPHENO:0046740",
- "HP:0000929",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UPHENO:0076724",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "UBERON:0005178",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0000135",
- "CL:0000458",
- "UPHENO:0084761",
- "HP:0012733",
- "UPHENO:0010850",
- "UBERON:0002544",
- "UPHENO:0046445",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0003082",
- "CL:0000763",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0046552",
- "GO:0006974",
- "UBERON:5006048",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0068971",
- "UPHENO:0085263",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0069327",
- "HP:0011017",
- "UBERON:0002405",
- "UPHENO:0012312",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002417",
- "UPHENO:0009391",
- "CL:0002422",
- "HP:0012130",
- "GO:0051716",
- "HP:0001877",
- "UPHENO:0002905",
- "UPHENO:0088148",
- "HP:0011927",
- "CL:0000558",
- "UPHENO:0011825",
- "UPHENO:0008668"
- ],
- "has_phenotype_closure_label": [
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "primary metabolic process",
- "cellular response to stimulus",
- "response to stress",
- "DNA repair phenotype",
- "cellular response to stimulus phenotype",
- "response to stimulus phenotype",
- "DNA damage response",
- "nucleobase-containing compound metabolic process",
- "nucleic acid metabolic process",
- "cellular response to stress",
- "primary metabolic process phenotype",
- "cellular process",
- "interphase",
- "decreased multicellular organismal process",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "sensory perception of sound",
- "Deficient excision of UV-induced pyrimidine dimers in DNA",
- "ear physiology phenotype",
- "decreased sensory perception of mechanical stimulus",
- "Hearing abnormality",
- "vestibulo-auditory system",
- "sensory perception",
- "Abnormality of the ear",
- "decreased sensory perception",
- "cell cycle",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
- "anatomical line",
- "ectoderm-derived structure physiology phenotype",
- "eye physiology phenotype",
- "non-material anatomical boundary",
- "Abnormal eye physiology",
- "structure with developmental contribution from neural crest physiology phenotype",
- "anatomical line between pupils",
- "body part movement",
- "behavior process",
- "simple eye physiology phenotype",
- "delayed growth",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Abnormal localization of kidney",
- "localised abdomen element",
- "localised abdominal segment element",
- "localised cavitated compound organ",
- "localised lateral structure",
- "localised compound organ",
- "Duplicated collecting system",
- "renal collecting system phenotype",
- "Neoplasm by anatomical site",
- "sense organ physiology phenotype",
- "Leukemia",
- "Neoplasm",
- "Hematological neoplasm",
- "decreased functionality of the anatomical structure",
- "organ physiology phenotype",
- "gonad physiology phenotype",
- "decreased functionality of the organ",
- "Abnormality of the endocrine system",
- "behavior process phenotype",
- "reproductive structure physiology phenotype",
- "endocrine system",
- "Hypogonadism",
- "glandular system",
- "Cafe-au-lait spot",
- "Hypermelanotic macule",
- "ear phenotype",
- "increased pigmentation",
- "Hyperpigmentation of the skin",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "heart phenotype",
- "circulatory organ phenotype",
- "primary circulatory organ phenotype",
- "heart plus pericardium",
- "thoracic cavity element phenotype",
- "circulatory organ",
- "viscus",
- "Abnormal heart morphology",
- "anatomical cluster",
- "Irregular hyperpigmentation",
- "circulatory system",
- "Abnormal bleeding",
- "Generalized abnormality of skin",
- "cardiovascular system",
- "cardiovascular system phenotype",
- "Bruising susceptibility",
- "Subcutaneous hemorrhage",
- "vasculature phenotype",
- "pathological phenotype observation",
- "reproductive system physiology phenotype",
- "Duplication of hand bones",
- "Complete duplication of thumb phalanx",
- "individual digit of digitopodial skeleton",
- "skeleton of digitopodium",
- "manual digit phalanx endochondral element",
- "autopod bone",
- "manual digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "DNA metabolic process",
- "skeleton of manual acropodium",
- "manual digit bone",
- "viscus phenotype",
- "manual digit 1 phalanx",
- "phalanx of manus",
- "phalanx",
- "macromolecule metabolic process",
- "Intellectual disability",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "nervous system process",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "Abnormal axial skeleton morphology",
- "telencephalon phenotype",
- "sensory perception phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Strabismus",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal conjugate eye movement",
- "negative regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "regional part of brain phenotype",
- "biological regulation",
- "manual digitopodium bone",
- "homeostatic process",
- "autopod endochondral element",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "Macule",
- "heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "behavior phenotype",
- "anatomical structure physiology phenotype",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "material anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "Neurodevelopmental abnormality",
- "biological_process phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "reproductive organ physiology phenotype",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "biological_process",
- "anatomical entity mass phenotype",
- "occurrent",
- "process",
- "Small for gestational age",
- "multicellular organism mass phenotype",
- "Abnormality of the head",
- "sense organ",
- "biological phase",
- "immaterial entity",
- "entire sense organ system",
- "digitopodium bone",
- "decreased size of the eyeball of camera-type eye",
- "decreased size of the sense organ",
- "visual system",
- "camera-type eye",
- "decreased size of the ectoderm-derived structure",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "metabolic process phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of head phenotype",
- "Abnormality of the eye",
- "eye",
- "face",
- "orbital region",
- "Aplasia/Hypoplasia affecting the eye",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "cranial skeletal system",
- "Microphthalmia",
- "Decreased anatomical entity mass",
- "craniofacial/craniocervical phenotype",
- "system process",
- "simple eye",
- "subdivision of head",
- "eyeball of camera-type eye",
- "eyeball of camera-type eye phenotype",
- "visual system phenotype",
- "Abnormality of the orbital region",
- "Finger aplasia",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "location of anatomical entity phenotype",
- "anatomical cluster phenotype",
- "renal system phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent skeletal element",
- "All",
- "Cryptorchidism",
- "reproductive organ phenotype",
- "kidney",
- "Abnormality of thumb phalanx",
- "localised material anatomical entity",
- "face phenotype",
- "localised male reproductive organ",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "enucleated reticulocyte morphology phenotype",
- "aplasia or hypoplasia of manual digit",
- "absent radius endochondral element in the forelimb",
- "localised reproductive organ",
- "number of leukocyte phenotype",
- "sensory perception of mechanical stimulus",
- "growth phenotype",
- "testis phenotype",
- "Abnormal myeloid cell morphology",
- "Eumetazoa",
- "Abnormality of thrombocytes",
- "DNA repair",
- "Chromosome breakage",
- "Abnormal platelet count",
- "appendage girdle complex",
- "Hypergonadotropic hypogonadism",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "male reproductive organ phenotype",
- "reproductive structure",
- "erythroid lineage cell morphology phenotype",
- "Prolonged G2 phase of cell cycle",
- "erythrocyte morphology phenotype",
- "skin of body morphology phenotype",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "renal collecting system",
- "Abnormality of globe size",
- "number of platelet phenotype",
- "skin of body",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
- "DNA metabolic process phenotype",
- "Abnormal skin morphology",
- "integumental system phenotype",
- "skeleton of manual digitopodium",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure physiology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "cell",
- "head morphology phenotype",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "decreased number of platelet",
- "subdivision of organism along main body axis",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "Neutropenia",
- "decreased functionality of the multicellular anatomical structure",
- "localised reproductive structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "Pallor",
- "reproductive structure phenotype",
- "thoracic segment organ phenotype",
- "Decreased body weight",
- "Abnormality of the genital system",
- "number of anatomical enitites of type neutrophil phenotype",
- "tissue",
- "simple eye phenotype",
- "Abnormal myeloid leukocyte morphology",
- "blood cell phenotype",
- "hematopoietic system",
- "bone cell",
- "number of anatomical enitites of type kidney phenotype",
- "eukaryotic cell",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "manual digit morphology in the manus phenotype",
- "nucleate cell",
- "bone marrow",
- "granulocyte",
- "cell phenotype",
- "decreased number of material anatomical entity",
- "Abnormal skeletal morphology",
- "Abnormal neutrophil count",
- "Vascular skin abnormality",
- "Aplasia involving bones of the extremities",
- "Abnormality of the male genitalia",
- "musculature of body",
- "absent multicellular anatomical structure in the limb",
- "decreased functionality of the material anatomical entity",
- "hematopoietic system phenotype",
- "trunk",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "blood cell",
- "Abnormality of the immune system",
- "absent compound organ in the renal system",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
- "superficial fascia",
- "immune system",
- "Abnormal male external genitalia morphology",
- "disconnected anatomical group",
- "decreased number of neutrophil",
- "neutrophil",
- "absent anatomical structure in the limb",
- "skeletal element",
- "camera-type eye morphology phenotype",
- "musculature phenotype",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "anatomical entity phenotype",
- "material anatomical entity mass phenotype",
- "body proper",
- "growth",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "autopod region morphology phenotype",
- "localised anatomical structure",
- "absent material anatomical entity in the multicellular organism",
- "abdomen element phenotype",
- "absent radius bone",
- "localised anatomical entity",
- "absent lateral structure in the renal system",
- "Abnormal limb bone morphology",
- "taxon specific phenotype",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "Abnormal cellular immune system morphology",
- "Abnormality of the vasculature",
- "gonad",
- "bone element",
- "pectoral appendage",
- "localised kidney",
- "forelimb zeugopod bone",
- "number of anatomical enitites of type bone element phenotype",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "phalanx endochondral element",
- "absent skeletal element in the limb",
- "testis",
- "long bone phenotype",
- "lateral structure",
- "multicellular organism",
- "trunk region element phenotype",
- "absent multicellular anatomical structure in the renal system",
- "serotonin secreting cell",
- "arm bone phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "absent forelimb long bone",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "ectoderm-derived structure",
- "root",
- "external genitalia phenotype",
- "renal system",
- "non-connected functional system",
- "gonad phenotype",
- "Duplication of thumb phalanx",
- "absent bone of appendage girdle complex in the forelimb",
- "motile cell",
- "decreased size of the digit",
- "Abnormality of head or neck",
- "external male genitalia phenotype",
- "multicellular anatomical structure",
- "craniocervical region",
- "decreased length of organism subdivision",
- "number of anatomical enitites of type trunk region element phenotype",
- "organ phenotype",
- "skeleton",
- "genitourinary system phenotype",
- "Abnormal testis morphology",
- "postcranial axial skeleton",
- "organ system subdivision",
- "cognition",
- "absent trunk region element",
- "anatomical system",
- "Absent forearm bone",
- "organ",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "response to stimulus",
- "multicellular anatomical structure mass phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "decreased number of anatomical entity",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "anterior region of body",
- "Abnormality of the upper urinary tract",
- "absent forelimb endochondral element",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "abdominal segment of trunk",
- "anatomical structure",
- "Growth abnormality",
- "skeletal system phenotype",
- "Abnormality of body weight",
- "absent anatomical entity in the forelimb",
- "decreased functionality of the reproductive organ",
- "decreased length of manual digit 1 or 5",
- "thoracic segment of trunk",
- "absent organ in the multicellular organism",
- "organism subdivision phenotype",
- "cell cycle phenotype",
- "platelet",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "cellular process phenotype",
- "absent cavitated compound organ",
- "neoplasm phenotype",
- "Abnormality of neutrophils",
- "absent material anatomical entity in the forelimb",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "absent lateral structure",
- "skull",
- "Short thumb",
- "Abnormality of the hand",
- "primary circulatory organ",
- "head phenotype",
- "localised organ",
- "anatomical entity",
- "Ectopic kidney",
- "decreased number of granulocyte",
- "absent organism subdivision",
- "skin of body phenotype",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "absent multicellular anatomical structure",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent material anatomical entity in the renal system",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "absent kidney in the renal system",
- "number of anatomical enitites of type endochondral bone phenotype",
- "specifically dependent continuant",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "quality",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "number of anatomical enitites of type anatomical structure phenotype",
- "face morphology phenotype",
- "subdivision of trunk",
- "endocrine system phenotype",
- "reproductive system",
- "absent forelimb long bone in the forelimb",
- "negative regulation of gene expression",
- "absent trunk region element in the renal system",
- "musculature of body phenotype",
- "absent limb bone in the limb",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "absent endochondral element in the limb",
- "segment of manus",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "acropodium region",
- "absent anatomical entity",
- "endochondral element",
- "anatomical entity dysfunction in independent continuant",
- "manus bone",
- "secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "absent multicellular anatomical structure in the skeletal system",
- "absent mesoderm-derived structure",
- "skeletal system",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "kidney morphology phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "number of anatomical enitites of type abdomen element phenotype",
- "Abnormal granulocyte count",
- "absent kidney",
- "forelimb morphology phenotype",
- "pigmentation phenotype",
- "absent abdominal segment element in the renal system",
- "absent forelimb bone in the limb",
- "decreased qualitatively nervous system process",
- "acropodial skeleton",
- "segment of autopod",
- "Abnormal nervous system physiology",
- "zeugopod phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "Thrombocytopenia",
- "macromolecule metabolic process phenotype",
- "programmed DNA elimination",
- "system",
- "Short finger",
- "phenotype",
- "Abnormality of the integument",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "Puberty and gonadal disorders",
- "integument phenotype",
- "musculature",
- "Abnormality of DNA repair",
- "absent manual digit",
- "main body axis",
- "vision/eye phenotype",
- "bone marrow cell",
- "Abnormality of the kidney",
- "G2 phase",
- "kidney phenotype",
- "male reproductive system phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "absent trunk region element in the multicellular organism",
- "absent endochondral bone in the forelimb",
- "localised gonad",
- "abdomen",
- "bone of pectoral complex morphology phenotype",
- "abdominal segment element phenotype",
- "subdivision of trunk phenotype",
- "Abnormality of the cell cycle",
- "absent abdomen element",
- "immaterial anatomical entity",
- "manual digit 1 morphology phenotype",
- "behavior",
- "decreased functionality of the gonad",
- "Abnormal bone marrow cell morphology",
- "absent abdomen element in the renal system",
- "Abnormal cellular phenotype",
- "Abnormality of the skin",
- "absent arm bone in the forelimb",
- "cavitated compound organ",
- "number of anatomical enitites of type lateral structure phenotype",
- "nervous system process phenotype",
- "neutrophil phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "upper limb segment phenotype",
- "Abnormal renal collecting system morphology",
- "genitourinary system",
- "leukocyte",
- "material entity",
- "Abnormal granulocyte morphology",
- "number of anatomical enitites of type organ phenotype",
- "trunk region element",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "Renal agenesis",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "absent bone of free limb or fin",
- "renal system morphology phenotype",
- "forelimb zeugopod skeleton",
- "absent bone element in the forelimb",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "anatomical collection",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
- "sense organ phenotype",
- "absent organ in the renal system",
- "limb",
- "manual digit phenotype",
- "trunk phenotype",
- "digit 1 digitopodial skeleton",
- "hemolymphoid system",
- "absent cavitated compound organ in the renal system",
- "lateral structure phenotype",
- "decreased height of the multicellular organism",
- "forelimb long bone",
- "Phenotypic abnormality",
- "anatomical entity morphology in the pectoral complex phenotype",
- "number of anatomical enitites of type compound organ phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Anemic pallor",
- "erythrocyte",
- "Abnormal cell morphology",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "absent endochondral bone in the limb",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "decreased length of autopodial extension",
- "limb segment",
- "localised multicellular anatomical structure",
- "cell cycle phase",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent bone of pectoral complex in the limb",
- "absent long bone",
- "nucleobase-containing compound metabolic process phenotype",
- "decreased length of anatomical entity",
- "decreased qualitatively biological_process",
- "kinesthetic behavior",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "Abnormal finger phalanx morphology",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "absent bone of pectoral complex in the forelimb",
- "heart",
- "limb bone phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "absent organism subdivision in the multicellular organism",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "vascular system",
- "skeleton of limb phenotype",
- "arm",
- "decreased biological_process",
- "Absent radius",
- "skeletal element phenotype",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "Abnormal eye morphology",
- "male organism phenotype",
- "appendicular skeleton",
- "absent anatomical structure in the skeletal system",
- "Short digit",
- "oxygen accumulating cell",
- "absent bone of appendage girdle complex",
- "Decreased head circumference",
- "material anatomical entity",
- "absent bone of free limb or fin in the limb",
- "myeloid leukocyte",
- "autopodial extension phenotype",
- "regulation of biological process",
- "manual digit",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "forelimb",
- "digit 1 or 5",
- "decreased number of leukocyte",
- "long bone",
- "absent abdominal segment element",
- "endochondral bone",
- "increased biological_process",
- "Abnormality of mental function",
- "absent anatomical entity in the skeletal system",
- "absent organ",
- "absent bone of appendage girdle complex in the limb",
- "absent forelimb zeugopod bone",
- "decreased size of the organ",
- "abdominal segment element",
- "radius bone phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "camera-type eye physiology phenotype",
- "forelimb long bone phenotype",
- "absent mesoderm-derived structure in the limb",
- "decreased functionality of the anatomical entity",
- "absent endochondral element in the forelimb",
- "absent radius bone in the forelimb",
- "external genitalia",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "absent long bone in the forelimb",
- "response to stress phenotype",
- "nucleic acid metabolic process phenotype",
- "decreased functionality of the reproductive structure",
- "Complete duplication of phalanx of hand",
- "Reticulocytopenia",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "vestibulo-auditory system phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "absent bone of pectoral complex",
- "Localized skin lesion",
- "absent limb long bone",
- "aplastic anatomical entity",
- "endochondral bone phenotype",
- "absent organ in the forelimb",
- "eye movement",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "thoracic cavity element",
- "Abnormal external genitalia",
- "pectoral appendage skeleton phenotype",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Abnormal long bone morphology",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "absent mesoderm-derived structure in the forelimb",
- "absent limb endochondral element in the forelimb",
- "cellular response to stress phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "Anemia",
- "skeleton of limb",
- "pectoral appendage skeleton",
- "camera-type eye phenotype",
- "number of cell phenotype",
- "limb bone",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent arm bone",
- "pectoral complex",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "absent anatomical entity in the limb",
- "absent forelimb bone",
- "reproductive system phenotype",
- "autopodial extension",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "absent compound organ",
- "Aplasia/hypoplasia of the extremities",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "Aplasia involving forearm bones",
- "myeloid cell",
- "autopod region",
- "absent forelimb bone in the forelimb",
- "radius bone morphology phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "absent limb long bone in the forelimb",
- "forelimb skeleton",
- "anucleate cell",
- "absent mesoderm-derived structure in the multicellular organism",
- "absent limb bone in the forelimb",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "manual digit 1 phalanx endochondral element",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "paired limb/fin",
- "aplastic forelimb zeugopod bone",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "absent limb endochondral element in the limb",
- "DNA damage response phenotype",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "absent limb endochondral element",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "zeugopodial skeleton",
- "Duplication of bones involving the upper extremities",
- "absent bone element",
- "size of eyeball of camera-type eye phenotype",
- "absent material anatomical entity in the skeletal system",
- "sensory perception of sound phenotype",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "absent forelimb endochondral element in the limb",
- "absent bone of free limb or fin in the forelimb",
- "forelimb skeleton phenotype",
- "craniocervical region morphology phenotype",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "absent anatomical structure in the forelimb",
- "skeleton phenotype",
- "anatomical entity height phenotype",
- "absent radius endochondral element",
- "number of anatomical enitites of type endochondral element phenotype",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "Duplication of phalanx of hand",
- "arm bone",
- "absent endochondral element",
- "digitopodium region",
- "absent bone element in the limb",
- "Atypical behavior",
- "eye movement phenotype",
- "absent skeletal element in the forelimb",
- "aplasia or hypoplasia of anatomical entity",
- "absent limb bone",
- "absent forelimb endochondral element in the forelimb",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "subdivision of skeletal system phenotype",
- "appendicular skeleton phenotype",
- "vasculature",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "localised testis",
- "absent endochondral bone",
- "bone of pectoral complex phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "anatomical collection phenotype",
- "arm phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "regulation of cellular metabolic process phenotype",
- "absent anatomical structure in the renal system",
- "decreased size of the autopodial extension",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "decreased length of multicellular anatomical structure",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "integument",
- "skeleton of manus",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "enucleated reticulocyte",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "male reproductive system",
- "anatomical entity length phenotype",
- "Abnormality of eye movement",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "decreased length of anatomical structure",
- "size of anatomical entity phenotype",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "reticulocyte",
- "number of anatomical enitites of type reticulocyte phenotype",
- "decreased number of reticulocyte",
- "endochondral element phenotype",
- "Abnormal reticulocyte morphology",
- "ear",
- "absent anatomical structure",
- "Abnormal erythrocyte morphology",
- "aplastic manual digit 1"
- ],
- "has_phenotype_count": 32,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": null,
- "deprecated": null,
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0019391",
- "category": "biolink:Disease",
- "name": "Fanconi anemia",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
- "xref": [
- "DOID:13636",
- "GARD:6425",
- "ICD9:284.09",
- "MEDGEN:41967",
- "MESH:D005199",
- "MedDRA:10055206",
- "NANDO:1200303",
- "NANDO:1200891",
- "NANDO:2200652",
- "NCIT:C62505",
- "NORD:1132",
- "OMIMPS:227650",
- "Orphanet:84",
- "SCTID:30575002",
- "UMLS:C0015625"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "Fanconi anemia",
- "Fanconi pancytopenia",
- "Fanconi panmyelopathy",
- "Fanconi's anaemia",
- "Fanconi's anemia",
- "Panmyelopathy, Fanconi",
- "pancytopenia, congenital",
- "primary erythroid hypoplasia"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0100867",
- "HP:0100760",
- "HP:0100587",
- "HP:0100542",
- "HP:0100026",
- "HP:0040071",
- "HP:0012639",
- "HP:0012041",
- "HP:0010469",
- "HP:0010293",
- "HP:0008678",
- "HP:0000377",
- "HP:0008053",
- "HP:0007565",
- "HP:0006824",
- "HP:0006265",
- "HP:0006101",
- "HP:0005344",
- "HP:0004349",
- "HP:0004209",
- "HP:0003022",
- "HP:0002863",
- "HP:0002827",
- "HP:0002823",
- "HP:0002575",
- "HP:0002414",
- "HP:0002251",
- "HP:0002245",
- "HP:0002119",
- "HP:0002023",
- "HP:0002007",
- "HP:0001824",
- "HP:0001770",
- "HP:0001763",
- "HP:0001760",
- "HP:0001679",
- "HP:0001646",
- "HP:0001643",
- "HP:0001639",
- "HP:0001636",
- "HP:0001631",
- "HP:0001562",
- "HP:0001537",
- "HP:0001511",
- "HP:0001510",
- "HP:0001392",
- "HP:0001347",
- "HP:0001199",
- "HP:0000864",
- "HP:0000813",
- "HP:0000639",
- "HP:0000582",
- "HP:0000568",
- "HP:0000520",
- "HP:0000518",
- "HP:0000508",
- "HP:0000505",
- "HP:0000504",
- "HP:0000492",
- "HP:0000486",
- "HP:0000483",
- "HP:0000478",
- "HP:0000453",
- "HP:0000365",
- "HP:0000364",
- "HP:0000347",
- "HP:0000340",
- "HP:0000324",
- "HP:0000316",
- "HP:0000286",
- "HP:0000268",
- "HP:0000238",
- "HP:0000218",
- "HP:0000175",
- "HP:0000135",
- "HP:0000130",
- "HP:0000083",
- "HP:0000072",
- "HP:0000047",
- "HP:0000035",
- "HP:0000028",
- "HP:0000027",
- "HP:0000010",
- "HP:0012745",
- "HP:0012210",
- "HP:0007874",
- "HP:0002664",
- "HP:0002650",
- "HP:0001671",
- "HP:0001263",
- "HP:0001249",
- "HP:0000252",
- "HP:0000079",
- "HP:0007400",
- "HP:0006501",
- "HP:0005522",
- "HP:0004322",
- "HP:0003220",
- "HP:0002817",
- "HP:0001903",
- "HP:0001882",
- "HP:0001873",
- "HP:0001871",
- "HP:0001172",
- "HP:0001053",
- "HP:0001000"
- ],
- "has_phenotype_label": [
- "Duodenal stenosis",
- "Clubbing of toes",
- "Abnormal preputium morphology",
- "Abnormal localization of kidney",
- "Arteriovenous malformation",
- "Abnormal morphology of ulna",
- "Abnormal nervous system morphology",
- "Decreased fertility in males",
- "Absent testis",
- "Aplasia/Hypoplasia of the uvula",
- "Renal hypoplasia/aplasia",
- "Abnormal pinna morphology",
- "Aplasia/Hypoplasia of the iris",
- "Multiple cafe-au-lait spots",
- "Cranial nerve paralysis",
- "Aplasia/Hypoplasia of fingers",
- "Finger syndactyly",
- "Abnormal carotid artery morphology",
- "Reduced bone mineral density",
- "Clinodactyly of the 5th finger",
- "Hypoplasia of the ulna",
- "Myelodysplasia",
- "Hip dislocation",
- "Abnormal femur morphology",
- "Tracheoesophageal fistula",
- "Spina bifida",
- "Aganglionic megacolon",
- "Meckel diverticulum",
- "Ventriculomegaly",
- "Anal atresia",
- "Frontal bossing",
- "Weight loss",
- "Toe syndactyly",
- "Pes planus",
- "Abnormal foot morphology",
- "Abnormal aortic morphology",
- "Abnormal aortic valve morphology",
- "Patent ductus arteriosus",
- "Hypertrophic cardiomyopathy",
- "Tetralogy of Fallot",
- "Atrial septal defect",
- "Oligohydramnios",
- "Umbilical hernia",
- "Intrauterine growth retardation",
- "Growth delay",
- "Abnormality of the liver",
- "Hyperreflexia",
- "Triphalangeal thumb",
- "Abnormality of the hypothalamus-pituitary axis",
- "Bicornuate uterus",
- "Nystagmus",
- "Upslanted palpebral fissure",
- "Microphthalmia",
- "Proptosis",
- "Cataract",
- "Ptosis",
- "Visual impairment",
- "Abnormality of vision",
- "Abnormal eyelid morphology",
- "Strabismus",
- "Astigmatism",
- "Abnormality of the eye",
- "Choanal atresia",
- "Hearing impairment",
- "Hearing abnormality",
- "Micrognathia",
- "Sloping forehead",
- "Facial asymmetry",
- "Hypertelorism",
- "Epicanthus",
- "Dolichocephaly",
- "Hydrocephalus",
- "High palate",
- "Cleft palate",
- "Hypogonadism",
- "Abnormality of the uterus",
- "Renal insufficiency",
- "Hydroureter",
- "Hypospadias",
- "Abnormal testis morphology",
- "Cryptorchidism",
- "Azoospermia",
- "Recurrent urinary tract infections",
- "Short palpebral fissure",
- "Abnormal renal morphology",
- "Almond-shaped palpebral fissure",
- "Neoplasm",
- "Scoliosis",
- "Abnormal cardiac septum morphology",
- "Global developmental delay",
- "Intellectual disability",
- "Microcephaly",
- "Abnormality of the urinary system",
- "Irregular hyperpigmentation",
- "Aplasia/Hypoplasia of the radius",
- "Pyridoxine-responsive sideroblastic anemia",
- "Short stature",
- "Abnormality of chromosome stability",
- "Abnormality of the upper limb",
- "Anemia",
- "Leukopenia",
- "Thrombocytopenia",
- "Abnormality of blood and blood-forming tissues",
- "Abnormal thumb morphology",
- "Hypopigmented skin patches",
- "Abnormality of skin pigmentation"
- ],
- "has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
- "UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
- "HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
- "HP:0001881",
- "UPHENO:0063722",
- "UPHENO:0085410",
- "UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
- "HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "GO:0034101",
- "HP:0001877",
- "HP:0001903",
- "GO:0030218",
- "CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
- "UPHENO:0080187",
- "HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
- "UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
- "HP:0001249",
- "HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
- "UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
- "UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
- "UPHENO:0052965",
- "UPHENO:0086172",
- "UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
- "UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
- "UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
- "UPHENO:0053571",
- "UPHENO:0053572",
- "UPHENO:0075933",
- "UBERON:0010418",
- "UBERON:0001333",
- "UBERON:0000056",
- "UBERON:0036295",
- "UPHENO:0002806",
- "UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
- "HP:0000072",
- "UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
- "HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
- "UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
- "HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
- "UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
- "UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
- "UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
- "UPHENO:0014761",
- "UPHENO:0014240",
- "HP:0010987",
- "UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
- "HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
- "UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
- "UPHENO:0072332",
- "UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
- "UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
- "UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
- "HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
- "UPHENO:0080087",
- "UPHENO:0005437",
- "UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
- "UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
- "UBERON:0005726",
- "UPHENO:0005071",
- "HP:0005105",
- "UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
- "UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
- "UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
- "HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
- "UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
- "UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
- "UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
- "UPHENO:0002977",
- "UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
- "UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
- "UPHENO:0075995",
- "UBERON:0005897",
- "UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
- "UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
- "HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
- "UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
- "UPHENO:0049622",
- "NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
- "NBO:0000403",
- "UPHENO:0049699",
- "UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
- "UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
- "UPHENO:0052178",
- "UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
- "UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
- "HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
- "UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
- "UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
- "UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
- "UBERON:0002081",
- "UPHENO:0075208",
- "HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
- "UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
- "UPHENO:0066913",
- "UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
- "UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
- "UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
- "UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
- "UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
- "UPHENO:0033598",
- "UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
- "UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
- "UPHENO:0086866",
- "UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
- "UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
- "UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
- "UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
- "UPHENO:0041565",
- "UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
- "UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
- "HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
- "UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
- "HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
- "UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
- "UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
- "UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
- "UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
- "UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
- "UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
- "UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
- "HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
- "UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
- "UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
- "UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
- "UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
- "UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
- "UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
- "HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
- "UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
- "UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
- "UBERON:0002114",
- "UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
- "UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
- "BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
- "UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
- "UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
- "UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
- "HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
- "UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
- "HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
- "HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
- "UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
- "UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
- "HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
- "UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
- "UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
- "UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
- "UPHENO:0005058",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
- "UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
- "UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
- "HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
- "UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
- "UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
- "HP:0002011",
- "UBERON:5102389",
- "HP:0003312",
- "UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
- "GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
- "UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
- "UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
- "HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
- "UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
- "RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
- "UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914"
- ],
- "has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
- "Hypopigmented skin patches",
- "serotonin secreting cell",
- "decreased number of material anatomical entity in the multicellular organism",
- "decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
- "nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
- "Abnormal immune system morphology",
- "number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
- "Abnormal leukocyte morphology",
- "homeostatic process phenotype",
- "metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "decreased size of the multicellular organism",
- "Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
- "blood cell phenotype",
- "bone cell",
- "Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
- "Abnormal morphology of the radius",
- "radius endochondral element",
- "radius bone phenotype",
- "Abnormality of skull size",
- "cognition",
- "Scoliosis",
- "Almond-shaped palpebral fissure",
- "size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
- "immune system phenotype",
- "Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
- "absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
- "absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
- "absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
- "male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
- "localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
- "male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
- "urethra phenotype",
- "Abnormality of thrombocytes",
- "urethral opening",
- "Abnormal ureter morphology",
- "Abnormality of the ureter",
- "Hydroureter",
- "excretory tube phenotype",
- "Abnormality of the urinary system physiology",
- "abdominal segment element physiology phenotype",
- "kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
- "reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
- "incomplete closing of the ectoderm-derived structure",
- "incomplete closing of the neural crest-derived structure",
- "incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
- "increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
- "increased height of the roof of mouth",
- "increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
- "cerebrospinal fluid phenotype",
- "increased number of anatomical structure in the cerebrospinal fluid",
- "number of anatomical enitites of type organ component layer phenotype",
- "increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
- "increased length of the zone of skin",
- "increased length of the anatomical structure",
- "zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
- "non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
- "asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
- "dentary",
- "dentary phenotype",
- "jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
- "decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
- "sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
- "olfactory system",
- "chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
- "naris atresia",
- "internal naris",
- "naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
- "cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
- "structure with developmental contribution from neural crest, curved phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
- "Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
- "decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
- "opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
- "lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
- "transparent eye structure phenotype",
- "protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
- "eyelid phenotype",
- "palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
- "cranial nerve related reflex",
- "internal ear",
- "Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
- "Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
- "internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
- "female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
- "bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
- "hypothalamus-pituitary axis",
- "manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
- "manual digit bone",
- "manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
- "phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
- "nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
- "gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
- "decreased developmental process",
- "male gamete",
- "multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
- "Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
- "umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
- "herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
- "amniotic fluid",
- "amniotic fluid phenotype",
- "organism substance phenotype",
- "organism substance",
- "Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
- "late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
- "incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
- "Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
- "Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
- "decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
- "decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
- "heart layer",
- "organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
- "myocardium",
- "mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
- "incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
- "conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "incomplete closing of the artery",
- "anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
- "valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
- "heart left ventricle",
- "left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
- "circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
- "thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
- "great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
- "longitudinal arch of pes",
- "decreased number of anatomical structure",
- "flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
- "fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
- "anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
- "forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
- "limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
- "increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
- "dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
- "cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
- "anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
- "increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
- "epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
- "tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
- "intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
- "femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
- "deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
- "circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
- "pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
- "ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
- "endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
- "musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
- "multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
- "homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
- "manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
- "abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
- "digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
- "shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
- "sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
- "Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
- "Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
- "kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
- "deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
- "intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
- "appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
- "Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
- "Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
- "Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
- "hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
- "Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
- "decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
+ "forelimb long bone",
+ "radius bone",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "pigmentation",
+ "limb bone morphology phenotype",
"pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
- "skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
"endochondral bone phenotype",
- "trunk bone phenotype",
- "nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
+ "segmental subdivision of nervous system phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
"viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
"axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
"alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
- "neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
- "embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "postcranial axial skeleton",
+ "musculoskeletal system",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
"Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
- "Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "alimentary part of gastrointestinal system",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
+ "aplasia or hypoplasia of anatomical entity",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
+ "aplasia or hypoplasia of skeleton",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
"alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "subdivision of skeletal system phenotype",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
+ "subdivision of organism along appendicular axis",
"increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
"Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
"primary subdivision of cranial skeletal system",
- "organ part phenotype",
+ "absent endochondral bone",
+ "limb long bone",
"dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
+ "forelimb bone phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
+ "head",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "organ subunit phenotype",
+ "Abnormal brain morphology",
+ "autopod region",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
+ "renal system phenotype",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
+ "anatomical system phenotype",
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
"intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
- "pes bone",
- "neocortex",
- "frontal lobe",
- "Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere"
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype"
],
- "has_phenotype_count": 106,
+ "has_phenotype_count": 36,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0013248",
+ "id": "MONDO:0010953",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group O",
+ "name": "Fanconi anemia complementation group E",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
+ "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.",
"xref": [
- "DOID:0111096",
- "GARD:15656",
- "MEDGEN:462003",
- "OMIM:613390",
- "UMLS:C3150653"
+ "DOID:0111084",
+ "GARD:15324",
+ "MEDGEN:463628",
+ "NCIT:C125709",
+ "OMIM:600901",
+ "UMLS:C3160739"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCO",
- "Fanconi Anemia, complementation group type O",
- "Fanconi anaemia caused by mutation in RAD51C",
- "Fanconi anaemia caused by mutation in Rad51C",
- "Fanconi anaemia complementation group type O",
- "Fanconi anemia caused by mutation in RAD51C",
- "Fanconi anemia caused by mutation in Rad51C",
- "Fanconi anemia complementation group type O",
- "Fanconi anemia, complementation group O",
- "RAD51C Fanconi anaemia",
- "RAD51C Fanconi anemia",
- "Rad51C Fanconi anaemia",
- "Rad51C Fanconi anemia"
+ "FACE",
+ "FANCE",
+ "FANCE Fanconi anaemia",
+ "FANCE Fanconi anemia",
+ "Fanconi Anemia, complementation group type E",
+ "Fanconi anaemia caused by mutation in FANCE",
+ "Fanconi anaemia complementation group type E",
+ "Fanconi anemia caused by mutation in FANCE",
+ "Fanconi anemia complementation group E",
+ "Fanconi anemia complementation group type E",
+ "Fanconi anemia, complementation group E",
+ "face"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0000126",
- "HP:0002984",
+ "HP:0000104",
+ "HP:0001875",
+ "HP:0001017",
+ "HP:0001876",
"HP:0000028",
+ "HP:0003974",
+ "HP:0001873",
"HP:0009778",
- "HP:0009623",
+ "HP:0001896",
"HP:0009777",
+ "HP:0000568",
+ "HP:0001518",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0000978",
"HP:0001627",
- "HP:0000107",
- "HP:0040012",
- "HP:0003241",
+ "HP:0000953",
+ "HP:0000957",
+ "HP:0001903",
+ "HP:0000815",
+ "HP:0001909",
+ "HP:0000081",
+ "HP:0000086",
"HP:0004322",
- "HP:0001245",
- "HP:0002023",
- "HP:0003774",
- "HP:0025023"
+ "HP:0000486",
+ "HP:0000365",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000085"
],
"has_phenotype_label": [
- "Hydronephrosis",
- "Hypoplasia of the radius",
+ "Renal agenesis",
+ "Neutropenia",
+ "Anemic pallor",
+ "Pancytopenia",
"Cryptorchidism",
+ "Absent radius",
+ "Thrombocytopenia",
"Short thumb",
- "Proximal placement of thumb",
+ "Reticulocytopenia",
"Absent thumb",
+ "Microphthalmia",
+ "Small for gestational age",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bruising susceptibility",
"Abnormal heart morphology",
- "Renal cyst",
- "Chromosome breakage",
- "External genital hypoplasia",
+ "Hyperpigmentation of the skin",
+ "Cafe-au-lait spot",
+ "Anemia",
+ "Hypergonadotropic hypogonadism",
+ "Leukemia",
+ "Duplicated collecting system",
+ "Ectopic kidney",
"Short stature",
- "Small thenar eminence",
- "Anal atresia",
- "Stage 5 chronic kidney disease",
- "Rectal atresia"
+ "Strabismus",
+ "Hearing impairment",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Horseshoe kidney"
],
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0012361",
- "UPHENO:0084771",
- "NCBITaxon:2759",
- "HP:0025023",
- "HP:0002242",
- "UPHENO:0074330",
- "UPHENO:0004518",
- "UBERON:0004907",
- "UBERON:0006866",
- "UBERON:0001052",
- "UPHENO:0063563",
- "HP:0002034",
- "HP:0011024",
- "UPHENO:0002988",
- "UPHENO:0063632",
- "HP:0002250",
- "UBERON:0001353",
- "NCBITaxon:131567",
- "UPHENO:0063629",
- "UPHENO:0002902",
- "UPHENO:0002994",
- "UPHENO:0074335",
- "UBERON:0000481",
- "UPHENO:0076735",
- "UPHENO:0076773",
- "NCBITaxon:33154",
- "UPHENO:0063575",
- "UPHENO:0005046",
- "NCBITaxon:1",
- "HP:0011100",
- "UPHENO:0063615",
- "UPHENO:0002426",
- "UPHENO:0002269",
- "UPHENO:0082875",
+ "UPHENO:0041226",
+ "HP:0000085",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0006259",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0002903",
+ "HP:0000364",
+ "UPHENO:0052161",
+ "HP:0031704",
+ "GO:0050954",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "UPHENO:0005596",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UPHENO:0050106",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002211",
+ "UPHENO:0002301",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "UPHENO:0000541",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
+ "HP:0100542",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
+ "HP:0000086",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
"UPHENO:0002386",
- "HP:0002589",
- "UPHENO:0002427",
+ "UPHENO:0066927",
"UPHENO:0002308",
- "UPHENO:0002360",
- "HP:0000083",
- "UBERON:0000059",
- "UPHENO:0002442",
- "HP:0012622",
- "UPHENO:0002267",
- "HP:0012211",
- "HP:0025033",
- "UPHENO:0002839",
- "UPHENO:0063594",
- "UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "HP:0002023",
- "UPHENO:0063599",
- "UPHENO:0002548",
- "UPHENO:0074230",
- "UBERON:0001555",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0074245",
- "HP:0025031",
- "UPHENO:0002812",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0002655",
- "HP:0001245",
- "HP:0003011",
- "UBERON:0007269",
- "UBERON:0034929",
- "HP:0001446",
- "UPHENO:0003057",
- "HP:0009127",
- "UPHENO:0081341",
- "UPHENO:0003047",
- "HP:0001421",
- "UPHENO:0002647",
- "UBERON:0014793",
- "UBERON:0007271",
- "HP:0002818",
- "UPHENO:0002944",
- "UPHENO:0002832",
- "UPHENO:0046483",
- "GO:0031324",
- "UPHENO:0004900",
- "UPHENO:0008548",
- "HP:0009115",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "HP:0001903",
+ "HP:0012733",
+ "HP:0011355",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "GO:0043473",
+ "HP:0001000",
+ "HP:0000953",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "HP:0000135",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UPHENO:0011566",
+ "UBERON:0015228",
+ "UBERON:0005181",
+ "UPHENO:0004827",
+ "UPHENO:0002634",
+ "UBERON:0000948",
+ "UPHENO:0003086",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "UBERON:0010000",
+ "MPATH:120",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "MPATH:119",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "UBERON:0015023",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "CL:0000558",
+ "HP:0000152",
+ "UPHENO:0054970",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "HP:0000234",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002905",
+ "MPATH:0",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "UBERON:0011137",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0004173",
+ "UBERON:0000479",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0009121",
+ "UBERON:0000955",
+ "HP:0000240",
+ "HP:0002060",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UBERON:0012141",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "HP:0001876",
"UBERON:0002204",
- "UBERON:0000465",
- "UPHENO:0027017",
- "HP:0011314",
- "UPHENO:0005214",
- "HP:0003774",
- "UBERON:0001008",
- "HP:0000077",
- "UBERON:0001245",
- "HP:0045060",
- "UPHENO:0012308",
- "HP:0006501",
- "UPHENO:0068898",
- "UPHENO:0001360",
- "UBERON:0019231",
- "UPHENO:0046538",
- "HP:0000002",
- "HP:0009826",
- "UPHENO:0002593",
- "UPHENO:0086956",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0000489",
+ "HP:0011276",
+ "UPHENO:0002219",
+ "UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "BFO:0000015",
+ "UPHENO:0004523",
+ "GO:0031326",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0052178",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
+ "UPHENO:0002267",
+ "UPHENO:0003001",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0049587",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "GO:0040007",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0049874",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000915",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
+ "HP:0001507",
+ "UPHENO:3000007",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0002928",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075219",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "HP:0001892",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
"GO:0008150",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005409",
- "UBERON:0003103",
- "HP:0009821",
- "UPHENO:0046552",
- "UPHENO:0081091",
+ "UBERON:0000047",
+ "UBERON:0015024",
+ "UPHENO:0002403",
+ "UPHENO:0004802",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "HP:0100887",
+ "UPHENO:0046741",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0086589",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
+ "UPHENO:0088162",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "BFO:0000004",
+ "UPHENO:0002678",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
"UPHENO:0050065",
- "HP:0010946",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0007798",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UBERON:0012354",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0002733",
+ "UPHENO:0080300",
+ "UPHENO:0046707",
+ "HP:0006496",
+ "HP:0001873",
+ "UPHENO:0085263",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "HP:0011873",
+ "UBERON:0005451",
+ "UBERON:0010323",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "HP:0001872",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UPHENO:0086635",
+ "UBERON:0015410",
+ "UPHENO:0081511",
+ "UPHENO:0076941",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0025808",
+ "HP:0009115",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0001871",
"UPHENO:0075944",
- "HP:0011277",
+ "HP:0000496",
+ "UBERON:0002470",
"UBERON:0008962",
- "HP:0009484",
- "UPHENO:0009209",
- "UBERON:0015001",
"UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0074311",
- "UPHENO:0003812",
- "UBERON:0002386",
- "HP:0012732",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "HP:0001627",
- "UPHENO:3000004",
- "HP:0009601",
- "UPHENO:0003084",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0069163",
- "UBERON:0004381",
- "UPHENO:0087346",
- "UBERON:0005173",
- "UPHENO:0003095",
- "UBERON:0000991",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UBERON:0011582",
+ "HP:0040068",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
"UPHENO:0002648",
- "UBERON:0006717",
- "UPHENO:0068848",
+ "UPHENO:0025587",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UPHENO:0076799",
+ "UPHENO:0025176",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "HP:0002813",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0086633",
+ "UPHENO:0025553",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
"HP:0009815",
- "UPHENO:0002594",
- "UBERON:0004121",
- "UPHENO:0003799",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UBERON:0002495",
- "UPHENO:0050126",
- "UBERON:0008785",
- "UPHENO:0076718",
- "UBERON:0011584",
- "UBERON:0011582",
- "UPHENO:0002600",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0010000",
- "HP:0010945",
- "UPHENO:0087349",
- "UPHENO:0046455",
"UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002659",
- "HP:0040068",
- "HP:0009824",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0076727",
- "UBERON:0011143",
- "UPHENO:0069064",
- "GO:0005623",
- "UPHENO:0078606",
- "UPHENO:0069328",
- "UPHENO:0011825",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0009380",
+ "HP:0007364",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0002736",
+ "HP:0002715",
+ "UBERON:0010363",
"UPHENO:0046505",
- "HP:0040070",
- "UPHENO:0003093",
- "UPHENO:0025585",
- "UBERON:0000064",
- "UPHENO:0002576",
- "HP:0000028",
- "UPHENO:0046465",
"UBERON:0003606",
- "UPHENO:0049587",
- "UBERON:0001224",
- "UPHENO:0002632",
- "UBERON:0000489",
+ "UPHENO:0025546",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
+ "UPHENO:0004909",
+ "UBERON:0001008",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
"HP:0040064",
- "UPHENO:0050007",
- "HP:0010944",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UPHENO:0068971",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0002852",
- "UPHENO:0002525",
- "UBERON:0001062",
- "HP:0000126",
- "UBERON:0002101",
- "HP:0001197",
- "HP:0000001",
- "UPHENO:0002536",
- "GO:0009890",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UBERON:0000323",
- "HP:0000119",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0084132",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UPHENO:0002650",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UBERON:0002091",
- "UBERON:0000026",
- "UBERON:0004120",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0002983",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UPHENO:0008743",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0000153",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "UPHENO:0026308",
"RO:0002577",
- "UBERON:0004765",
- "HP:0034058",
- "UBERON:0000075",
- "UPHENO:0001478",
- "BFO:0000004",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UPHENO:0046540",
- "UBERON:0001474",
- "UPHENO:0002803",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "UPHENO:0075949",
- "UPHENO:0068838",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "HP:0005922",
- "UPHENO:0079872",
- "UBERON:0002428",
- "UBERON:0002100",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "HP:0001172",
- "UPHENO:0002969",
- "UPHENO:0084124",
- "HP:0000924",
- "UPHENO:0003415",
- "UBERON:5001463",
- "UBERON:0000916",
- "UPHENO:0069125",
- "UPHENO:0063639",
+ "UBERON:0010740",
+ "UBERON:0004122",
+ "UBERON:0002101",
"UBERON:0002113",
- "UBERON:0015021",
- "UBERON:0000467",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0011249",
- "UBERON:0009569",
- "UPHENO:0012312",
- "HP:0011017",
- "BFO:0000015",
- "UBERON:5002389",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0001134",
- "UPHENO:0049620",
- "HP:0006496",
- "GO:0060255",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0002909",
- "MPATH:55",
- "HP:0034242",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "UPHENO:0075893",
- "UPHENO:0002816",
- "UPHENO:0002754",
- "UPHENO:0002246",
- "HP:0003026",
- "UBERON:0000922",
- "UBERON:0004481",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0001147",
- "HP:0000032",
- "UPHENO:3000001",
- "GO:0010558",
- "UPHENO:0068839",
- "UBERON:0001009",
- "UBERON:0007100",
- "UBERON:0000468",
- "UPHENO:0068912",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
"UBERON:0015061",
- "UBERON:0011676",
- "HP:0005773",
- "UPHENO:0002733",
- "UBERON:0013701",
- "HP:0002817",
- "HP:0003220",
- "UPHENO:0087427",
- "HP:0011927",
- "UPHENO:0076810",
- "UPHENO:0002785",
- "UPHENO:0003514",
- "HP:0010935",
- "UPHENO:0046445",
- "UPHENO:0084829",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
- "UPHENO:0081581",
- "UPHENO:0069327",
- "UPHENO:0080126",
- "UPHENO:0002634",
- "UPHENO:0003045",
- "HP:0034057",
- "UPHENO:0086682",
+ "UPHENO:0077348",
+ "UPHENO:0026811",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0026317",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0026506",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
"UBERON:0010538",
- "UPHENO:0053566",
- "UPHENO:0002976",
- "UBERON:0004122",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "UBERON:0004921",
- "UPHENO:0053644",
- "UPHENO:0069236",
- "UPHENO:0074227",
- "UPHENO:0001001",
- "UPHENO:0002530",
- "HP:0000107",
- "GO:0009892",
- "UBERON:0003133",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UBERON:0000026",
+ "HP:0001574",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0002559",
+ "HP:0003974",
"UPHENO:0002682",
- "HP:0011425",
- "UBERON:0008837",
- "UPHENO:0069047",
- "UPHENO:0001072",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "BFO:0000040",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0000062",
- "HP:0000035",
- "UBERON:0005177",
- "UBERON:0004176",
- "UBERON:0004111",
- "UPHENO:0046479",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002411",
- "UBERON:0036295",
- "HP:0004322",
- "UPHENO:0002731",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "HP:0011805",
- "UPHENO:0086633",
- "UPHENO:0046392",
- "HP:0001939",
- "BFO:0000002",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0002945",
- "UBERON:0013702",
- "UPHENO:0069046",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0002417",
- "GO:0048523",
- "UPHENO:0046403",
+ "UBERON:0001436",
"UBERON:0012475",
- "UBERON:0005156",
- "HP:0011842",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "MPATH:1000",
- "PATO:0000001",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0011568",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UBERON:0015212",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UPHENO:0002861",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
"UPHENO:0079876",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "GO:0050794",
- "UBERON:0010708",
- "UPHENO:0069292",
- "UPHENO:0076783",
- "UPHENO:0002377",
- "UBERON:0010741",
- "UBERON:0001434",
+ "UPHENO:0009295",
"UPHENO:0003227",
- "UPHENO:0002559",
- "HP:0002984",
- "HP:0033127",
- "UBERON:0004710",
- "HP:0040012",
- "UBERON:0010740",
- "GO:0031323",
- "UPHENO:0081424",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "BFO:0000001",
- "GO:0040007",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0000061",
- "MPATH:62",
- "UBERON:0003607",
- "UPHENO:0063596",
- "UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069194",
- "UPHENO:0002983",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UBERON:5002544",
- "UPHENO:0084841",
- "UPHENO:0011572",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "UPHENO:0012440",
- "HP:0002973",
- "UPHENO:0068932",
- "UBERON:0000160",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0003025",
- "UPHENO:0001002",
- "UBERON:0010912",
- "UPHENO:0084448",
- "HP:0009778",
+ "UPHENO:0025855",
+ "UBERON:0002104",
+ "UPHENO:0004507",
+ "UBERON:0004288",
+ "UPHENO:0025961",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0011573",
+ "UPHENO:0080187",
+ "UPHENO:0025652",
+ "UBERON:0003101",
+ "UPHENO:0076776",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UPHENO:0076754",
+ "UPHENO:0026183",
+ "HP:0009381",
"UPHENO:0053647",
- "UPHENO:0002940",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0003055",
+ "UPHENO:0003415",
+ "UBERON:0000990",
+ "UPHENO:3000004",
+ "HP:0009943",
+ "HP:0008678",
+ "UPHENO:0077418",
"UPHENO:0003056",
- "UPHENO:0050778",
- "UPHENO:0081423",
- "UPHENO:0005016",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0008548",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "UPHENO:0053572",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0005025",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0000991",
+ "UPHENO:0026181",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UPHENO:0079872",
"UBERON:0000473",
- "UPHENO:0053572",
- "UPHENO:0053571",
- "UBERON:0003135",
- "UPHENO:0076710",
- "HP:0001510",
- "UBERON:0000990",
- "UPHENO:0053632",
- "UBERON:0000079",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004708",
- "UPHENO:0026506",
- "HP:0003241",
- "UPHENO:0002685",
- "UPHENO:0053559",
+ "UPHENO:0053566",
+ "UPHENO:0008604",
"UPHENO:0049743",
- "UPHENO:0005025",
- "HP:0000811",
- "GO:0031049",
- "UPHENO:0049775",
- "UPHENO:0000541",
- "HP:0010461",
- "UPHENO:0053561",
- "UPHENO:0069605",
+ "UPHENO:0076723",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UBERON:0000477",
+ "UPHENO:0009366",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
+ "UPHENO:0025776",
+ "CL:0000225",
+ "UBERON:0001434",
+ "UBERON:0001423",
+ "UBERON:0002199",
+ "HP:0000252",
+ "UPHENO:0050007",
"UBERON:0004053",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0005561",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
+ "UPHENO:0003811",
+ "UBERON:0000468",
+ "UPHENO:0002548",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "UBERON:0004088",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0046483",
+ "UBERON:0002416",
+ "CL:0000081",
+ "MPATH:105",
+ "CL:0000988",
+ "UBERON:0005178",
+ "CL:0000219",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "GO:0010605",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "HP:0032309",
"UPHENO:0046750",
- "UBERON:0003101",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0002523",
- "UPHENO:0000543",
- "HP:0012243",
- "UPHENO:0003055",
- "UPHENO:0086700",
+ "UPHENO:0011749",
+ "PR:000050567",
+ "UPHENO:0086019",
+ "HP:0001881",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UBERON:0002495",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0085354",
+ "HP:0001875",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "HP:0011893",
+ "UPHENO:0085371",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UPHENO:0006894",
+ "HP:0001911",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UBERON:0000383",
+ "UPHENO:0087427",
+ "HP:0032251",
+ "UPHENO:0076703",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UPHENO:0025585",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UBERON:0001017",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "UPHENO:0050008",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "UPHENO:0026806",
"UBERON:0003466",
- "HP:0004097",
- "UBERON:0006048",
- "UBERON:0012139",
- "UBERON:0000477",
- "UPHENO:0069684",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "UPHENO:0004476",
- "UPHENO:0084761",
- "UBERON:0002544",
- "HP:0040072",
- "UPHENO:0046741",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "UPHENO:0002714",
- "HP:0001155",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "CL:0000255",
"UPHENO:0003082",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UPHENO:0075763",
- "HP:0009381",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "UPHENO:0002422",
- "UBERON:0004480",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UBERON:0000948",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076776",
- "HP:0012718",
- "UPHENO:0086644",
- "UBERON:0010758",
- "GO:0010468",
- "UBERON:0002389",
- "HP:0011297",
- "HP:0009623",
- "UBERON:0012140",
- "UPHENO:0080369",
+ "HP:0003953",
+ "UPHENO:0053644",
+ "UPHENO:0086176",
+ "HP:0012372",
+ "UPHENO:0063787",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "UPHENO:0008593",
+ "UPHENO:0009011",
+ "UPHENO:0002963",
+ "UPHENO:0026630",
+ "UBERON:0013702",
+ "UPHENO:0025845",
+ "HP:0000079",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UPHENO:0076692",
+ "UPHENO:0004595",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "MPATH:603",
+ "CL:0000766",
+ "UPHENO:0002536",
+ "UPHENO:0026813",
+ "HP:0012243",
+ "UPHENO:0027017",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "HP:0000978",
+ "UPHENO:0002782",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "HP:0000478",
+ "HP:0000951",
+ "HP:0010987",
+ "CL:0000457",
+ "UPHENO:0026309",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "HP:0000077",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
"GO:0042592",
- "UPHENO:0084834",
- "UPHENO:0002595",
- "HP:0009603",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0004535",
- "UBERON:0006058",
- "UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "GO:0009889",
- "UPHENO:0001044",
- "UBERON:0005090",
- "UPHENO:0008668",
- "HP:0000079",
- "UPHENO:0081451",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0026640",
- "UBERON:0002102",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "HP:0012210",
+ "UPHENO:0009163",
+ "UBERON:0001062",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "HP:0000818",
+ "HP:0001017",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
+ "UPHENO:0002586",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0003088",
+ "UBERON:0010912",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
"UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0049868",
- "UBERON:0008878",
- "UPHENO:0026643",
- "UBERON:0015410",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0000915",
- "UPHENO:0004831",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UBERON:0015228",
- "UPHENO:0004469",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0076779",
- "UBERON:0005181",
- "UPHENO:0004827",
- "UPHENO:0004507",
- "UPHENO:0002786",
- "HP:0006265",
- "UBERON:0005178",
- "MPATH:56",
- "UPHENO:0003086",
- "MPATH:603",
- "MPATH:0",
- "GO:0050789",
- "UPHENO:0074310",
+ "UPHENO:0026486",
+ "UBERON:0010708",
+ "UPHENO:0001001",
+ "UPHENO:0000543",
+ "CL:0000458",
+ "MPATH:1000",
+ "UBERON:0001442",
"CL:0000000",
- "UPHENO:9002003",
- "GO:0008152",
- "GO:0065007",
- "UBERON:0034923",
- "UPHENO:0086172",
- "GO:0031327",
- "UPHENO:0050025",
- "GO:0031052",
- "UPHENO:0050435",
- "UPHENO:0050063",
- "GO:0010605",
- "GO:0010556",
- "UPHENO:0049642",
- "GO:0031326",
- "BFO:0000003",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "UPHENO:0002861",
- "UPHENO:0003022",
- "UPHENO:0050040",
- "UPHENO:0069254",
+ "UPHENO:0077391",
+ "UPHENO:0026507",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0011531",
+ "UBERON:0011216",
+ "UPHENO:0002945",
+ "UPHENO:0002526",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UBERON:0000079",
+ "GO:0010558",
+ "UPHENO:0069605",
+ "UBERON:0002100",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "HP:0012758",
+ "BFO:0000002",
+ "UBERON:0000467",
+ "UPHENO:0011931",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0066945",
"UPHENO:0002597",
- "UPHENO:0049757",
- "UPHENO:0080351",
- "UBERON:0017716",
- "GO:0010629",
- "HP:0001227",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0002649",
- "UPHENO:0002651",
- "UBERON:0001630",
- "UBERON:0004489"
+ "UBERON:0002371",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0004064",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0004375",
+ "UPHENO:0008430",
+ "UBERON:0000481",
+ "UBERON:0006058",
+ "HP:0001510",
+ "UPHENO:0088176"
],
"has_phenotype_closure_label": [
- "Intestinal atresia",
- "Anorectal anomaly",
- "alimentary part of gastrointestinal system",
- "cellular organisms",
- "Rectal atresia",
- "closing of the subdivision of digestive tract",
- "Eumetazoa",
- "closing of the anatomical system",
- "Abnormality of the gastrointestinal tract",
- "intestine phenotype",
- "anal region",
- "alimentary part of gastrointestinal system atresia",
- "Metazoa",
- "internal anal region",
- "organism",
- "digestive system element phenotype",
- "rectum phenotype",
- "Abnormal large intestine morphology",
- "large intestine",
- "Opisthokonta",
- "Abnormal gastrointestinal tract morphology",
- "subdivision of digestive tract phenotype",
- "lower digestive tract",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "terminal part of digestive tract",
- "rectum",
- "multi-tissue structure",
- "rectum morphology phenotype",
- "alimentary part of gastrointestinal system phenotype",
- "intestine morphology phenotype",
- "organ physiology phenotype",
- "material anatomical entity physiology phenotype",
- "abdominal segment element physiology phenotype",
- "trunk region element physiology phenotype",
- "kidney physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "shape anatomical entity",
+ "concave 3-D shape anatomical entity",
+ "response to stress phenotype",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stimulus",
+ "nucleobase-containing compound metabolic process phenotype",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "decreased multicellular organismal process",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Hearing abnormality",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "decreased qualitatively system process",
+ "decreased qualitatively multicellular organismal process",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "behavior",
+ "Abnormal conjugate eye movement",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
"lateral structure physiology phenotype",
- "renal system physiology phenotype",
- "compound organ physiology phenotype",
- "tube",
- "digestive system",
- "closing of the multicellular anatomical structure",
- "digestive system morphology phenotype",
- "Abnormality of the digestive system",
- "ectoderm-derived structure",
- "Gastrointestinal atresia",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus atresia",
- "anus morphology phenotype",
- "Abnormality of the anus",
- "ectoderm-derived structure atresia",
- "closing of the anatomical conduit",
- "orifice atresia",
- "material anatomical entity atresia",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "tube phenotype",
- "muscle structure",
- "pectoral appendage musculature phenotype",
- "Abnormality of the musculature",
- "Abnormality of the musculature of the limbs",
- "thenar eminence hypoplasia",
- "Small thenar eminence",
- "Abnormal skeletal muscle morphology",
- "Abnormality of the musculature of the hand",
- "thenar eminence",
- "muscle structure phenotype",
- "intestine atresia",
- "skeleton phenotype",
- "absent anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "obsolete cell",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "decreased length of skeletal element",
- "long bone phenotype",
- "testis",
- "forelimb skeleton phenotype",
- "palmar part of manus",
- "Abnormal anus morphology",
- "musculature of pectoral complex phenotype",
- "zeugopod phenotype",
- "absent anatomical structure",
- "appendicular skeleton morphology phenotype",
- "subdivision of skeleton phenotype",
- "anatomical system atresia",
- "biological regulation",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "long bone morphology phenotype",
- "zeugopod",
- "musculoskeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "absent material anatomical entity",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "zeugopodial skeleton",
- "decreased size of the multicellular anatomical structure",
- "radius endochondral element",
- "long bone",
- "limb",
- "manual digit phenotype",
- "subdivision of skeleton",
- "limb long bone",
- "upper limb segment phenotype",
+ "Growth delay",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "Ectopic kidney",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Anemia",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "Abnormality of skin pigmentation",
+ "increased pigmentation in skin of body",
+ "biological_process rate phenotype",
+ "primary circulatory organ phenotype",
+ "heart",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "primary circulatory organ",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "material anatomical entity",
+ "superficial fascia",
+ "Abnormality of the eye",
+ "pathological phenotype observation",
+ "Subcutaneous hemorrhage",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "compound organ phenotype",
+ "ecchymosis",
+ "cardiovascular system phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "multicellular organism phenotype",
+ "Abnormal heart morphology",
"biological_process phenotype",
- "Abnormality of chromosome stability",
- "radius bone morphology phenotype",
- "paired limb/fin phenotype",
- "Deviation of the hand or of fingers of the hand",
- "musculature of manus phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "musculature of upper limb phenotype",
- "large intestine morphology phenotype",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "Limb undergrowth",
- "pectoral appendage skeleton",
- "digestive tract",
- "skeleton of limb",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "regulation of macromolecule metabolic process",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "decreased size of the bone of pectoral complex",
- "aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "limb phenotype",
- "Abnormal skeletal morphology",
- "Chronic kidney disease",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb segment phenotype",
- "upper limb segment",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "arm bone phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "dilated anatomical entity",
- "process",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "skeletal system morphology phenotype",
- "pectoral complex",
- "forelimb long bone phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "obsolete protein-containing material entity",
+ "pathological anatomical entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
+ "location of anatomical entity phenotype",
+ "Morphological central nervous system abnormality",
+ "craniofacial/craniocervical phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "Vascular skin abnormality",
+ "forebrain",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "anucleate cell",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "genitourinary system phenotype",
+ "male organism phenotype",
"Chromosome breakage",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical entity length phenotype",
- "male reproductive system",
- "aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "agenesis of anatomical entity",
- "thoracic cavity element phenotype",
- "musculoskeletal system",
- "limb segment",
- "arm",
- "skeleton of limb phenotype",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "endochondral bone",
- "decreased size of the bone element",
- "absent multicellular anatomical structure in the multicellular organism",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Abnormality of the nervous system",
+ "Neurodevelopmental delay",
"appendage",
- "decreased length of bone of pectoral complex",
- "subdivision of tube",
- "Fetal pyelectasis",
- "decreased size of the material anatomical entity",
- "skeletal element",
- "appendage girdle complex",
- "paired limb/fin skeleton phenotype",
- "cavitated compound organ phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "organ part",
- "endochondral bone phenotype",
- "anatomical cluster",
- "Short long bone",
- "musculature phenotype",
+ "Abnormal nervous system physiology",
+ "manual digit 1 phalanx endochondral element",
+ "Global developmental delay",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
+ "process",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
"regulation of metabolic process phenotype",
- "multicellular organism phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "growth phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
"localised reproductive structure",
- "increased size of the renal pelvis",
- "increased size of the anatomical conduit",
- "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "multicellular organismal process",
+ "absent radius bone",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "manual digit bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "craniocervical region phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
"negative regulation of macromolecule metabolic process phenotype",
- "increased size of the anatomical entity",
- "Renal insufficiency",
- "bone element phenotype",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "kidney morphology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal cardiovascular system morphology",
+ "multicellular anatomical structure phenotype",
+ "Abnormal renal morphology",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "decreased length of manual digit 1",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "limb bone morphology phenotype",
+ "pigmentation",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "segment of manus",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "Abnormality of head or neck",
+ "absent kidney",
+ "autopodial extension",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
"decreased size of the material anatomical entity in the pectoral complex",
- "increased size of the anatomical structure",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "cavitated compound organ",
- "abdomen element phenotype",
- "location of anatomical entity phenotype",
- "taxon specific phenotype",
- "forelimb zeugopod bone",
- "renal pelvis morphology phenotype",
- "forelimb phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "Abnormal testis morphology",
- "viscus",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "negative regulation of gene expression phenotype",
- "organism subdivision phenotype",
- "palmar part of manus phenotype",
- "material anatomical entity",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
- "body proper",
- "late embryo",
"size of anatomical entity phenotype",
- "trunk",
- "organ part phenotype",
- "Fetal anomaly",
- "abdominal segment of trunk",
- "subdivision of organism along main body axis",
- "negative regulation of metabolic process",
- "material entity",
- "Abnormal renal pelvis morphology",
- "increased size of the material anatomical entity",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "anatomical structure",
- "Abnormality of the urinary system",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "localised male reproductive organ",
- "closing of the ectoderm-derived structure",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased number of platelet",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "Abnormal granulocyte morphology",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
"Abnormal limb bone morphology",
- "decreased size of the arm bone",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "forelimb zeugopod bone hypoplasia",
- "Eukaryota",
- "anatomical system phenotype",
- "absent material anatomical entity in the limb",
+ "arm",
+ "root",
+ "Abnormal platelet morphology",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "vasculature phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "Abnormality of reproductive system physiology",
"musculature of body phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "absent organism subdivision",
- "absent autopodial extension",
- "negative regulation of biosynthetic process",
- "decreased size of the forelimb bone",
- "main body axis",
- "organism subdivision",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "homeostatic process phenotype",
- "anatomical collection",
- "increased size of the organ part",
- "renal system phenotype",
- "anatomical cluster phenotype",
- "decreased size of the skeletal element",
- "multicellular organism",
- "lateral structure",
- "negative regulation of cellular process",
- "decreased size of the forelimb endochondral element",
- "multi-tissue structure phenotype",
+ "musculature of body",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "hemorrhage and non-specified extravasation",
+ "skeletal system phenotype",
+ "absent bone of appendage girdle complex",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "Absent forearm bone",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "appendicular skeleton phenotype",
+ "absent forelimb zeugopod bone",
+ "eyeball of camera-type eye phenotype",
+ "zeugopod",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "circulatory organ phenotype",
+ "forelimb",
+ "decreased number of material anatomical entity",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "arm phenotype",
+ "absent endochondral element in the limb",
+ "absent endochondral bone",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "vasculature",
"limb morphology phenotype",
- "Abnormality of the upper limb",
- "Abnormal finger morphology",
- "genitourinary system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "increased size of the multicellular anatomical structure",
- "decreased length of manual digit 1 or 5",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "closing of the anatomical structure",
- "phenotypic effect",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Short finger",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal forearm bone morphology",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormality of limb bone",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
"phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "thoracic segment of trunk",
- "subdivision of tube phenotype",
- "All",
- "Abnormal morphology of the radius",
- "Abnormality of the kidney",
- "specifically dependent continuant",
- "digestive system element",
- "external genitalia",
- "pectoral appendage phenotype",
- "limb bone morphology phenotype",
- "cardiovascular system",
- "size of multicellular organism phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "circulatory organ",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "regulation of cellular biosynthetic process phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "organism subdivision phenotype",
"kidney phenotype",
- "male reproductive system phenotype",
- "Deviation of finger",
- "kidney",
- "reproductive organ phenotype",
- "organ phenotype",
- "skeleton",
- "abdominal segment element phenotype",
- "Abnormal fetal morphology",
- "Abnormal rectum morphology",
- "subdivision of trunk phenotype",
- "Abnormal cellular physiology",
- "organ",
- "Fetal ultrasound soft marker",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "Upper limb undergrowth",
- "quality",
- "embryo phenotype",
- "aplastic anatomical entity",
- "muscle organ",
- "genitourinary system",
- "trunk region element",
- "renal pelvis",
- "paired limb/fin segment phenotype",
- "compound organ",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "embryonic development/birth phenotype",
- "Forearm undergrowth",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
"absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
+ "absent forelimb endochondral element in the limb",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "ectoderm-derived structure",
+ "absent radius endochondral element",
+ "pigmentation phenotype",
+ "absent anatomical structure in the forelimb",
+ "male reproductive system",
+ "cardiovascular system",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "Irregular hyperpigmentation",
+ "absent anatomical entity in the skeletal system",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "mesoderm-derived structure phenotype",
"reproductive system",
- "forelimb bone",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Dilatation of the renal pelvis",
- "renal pelvis phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "Abnormal reticulocyte morphology",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "forelimb bone phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "Abnormality of the cardiovascular system",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
+ "subdivision of skeleton",
+ "bone cell",
+ "myeloid leukocyte phenotype",
"Abnormality of the skeletal system",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "male reproductive organ",
+ "biogenic amine secreting cell",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
"lateral structure phenotype",
- "skeleton of pectoral complex",
- "decreased length of endochondral bone",
- "Abnormality of the urinary system physiology",
- "trunk phenotype",
- "dilated renal pelvis",
- "male organism phenotype",
- "appendicular skeleton",
- "Abnormal forearm bone morphology",
- "renal system",
- "decreased length of bone of free limb or fin",
- "manual digit 1 morphology phenotype",
- "Hypoplasia of the radius",
- "limb bone",
- "multicellular anatomical structure",
- "cavitated compound organ physiology phenotype",
- "decreased length of anatomical entity",
- "embryo",
- "decreased size of the limb bone",
- "gonad phenotype",
- "decreased size of the digit",
- "compound organ phenotype",
- "musculature of pectoral complex",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "palmar/plantar part of autopod",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
+ "bone of pectoral complex morphology phenotype",
+ "absent limb bone in the limb",
+ "Abnormality of the musculoskeletal system",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "pectoral appendage skeleton phenotype",
+ "subdivision of organism along appendicular axis",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "manus bone",
+ "absent endochondral element",
+ "Abnormality of the immune system",
+ "limb endochondral element",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "Pancytopenia",
+ "Abnormality of body height",
"subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "bone of pectoral complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
"heart morphology phenotype",
- "programmed DNA elimination by chromosome breakage",
- "musculature of body",
- "musculature",
- "absent manual digit",
- "anatomical structure atresia",
- "skeletal system",
- "aplasia or hypoplasia of anatomical entity",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "radius bone hypoplasia",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "heart phenotype",
- "bone of pectoral complex phenotype",
- "Abnormal fetal genitourinary system morphology",
- "musculature of upper limb",
- "anatomical collection phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "localised reproductive organ",
- "muscle organ morphology phenotype",
- "anatomical entity height phenotype",
- "reproductive structure",
- "closing of the organ part",
- "anatomical conduit",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "localised gonad",
+ "absent lateral structure",
+ "reproductive organ",
+ "skeleton phenotype",
+ "localised anatomical entity",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "reproductive system phenotype",
+ "integumental system phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
"male reproductive organ phenotype",
- "decreased length of organism subdivision",
- "large intestine phenotype",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
- "Abnormal intestine morphology",
- "thenar eminence phenotype",
- "external male genitalia phenotype",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "Abnormality of the cardiovascular system",
- "deviation of manual digit",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "localised testis",
"localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "multi-limb segment region",
+ "testis",
+ "granulocyte morphology phenotype",
+ "Abnormal external genitalia",
+ "musculoskeletal system phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "Abnormality of the male genitalia",
+ "bone element",
+ "vision/eye phenotype",
+ "secretory cell",
+ "tissue",
+ "Aplasia/hypoplasia involving forearm bones",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "nervous system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "Abnormality of the skin",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeleton of limb",
+ "external genitalia phenotype",
+ "integumental system",
+ "cavitated compound organ phenotype",
+ "Cryptorchidism",
+ "number of anatomical enitites of type kidney phenotype",
+ "growth",
+ "reproductive structure phenotype",
+ "immune system",
+ "absent trunk region element in the renal system",
+ "decreased number of cell",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "thoracic segment of trunk",
+ "Abnormal granulocyte count",
+ "excretory system",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "head",
+ "bone marrow",
+ "anatomical system",
+ "nervous system phenotype",
+ "Abnormal leukocyte count",
+ "nervous system physiology phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "decreased number of anatomical structure",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "heart plus pericardium",
+ "absent anatomical entity",
+ "response to stimulus phenotype",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "Abnormal bleeding",
+ "cell",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "absent forelimb bone in the forelimb",
+ "blood cell",
+ "Renal agenesis",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "number of cell phenotype",
+ "Abnormal testis morphology",
"disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "Abnormality of prenatal development or birth",
- "localised testis",
- "root",
- "external genitalia phenotype",
- "localised gonad",
- "localised anatomical entity",
- "regulation of macromolecule biosynthetic process phenotype",
- "Hydronephrosis",
- "Proximal placement of thumb",
- "localised material anatomical entity",
- "subdivision of organism along main body axis phenotype",
- "male organism",
- "anus",
- "renal pelvis/ureter",
- "decreased length of autopodial extension",
- "localised multicellular anatomical structure",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "Abnormal forearm morphology",
- "regulation of cellular process",
- "manus morphology phenotype",
- "digit phenotype",
- "Stage 5 chronic kidney disease",
- "anus phenotype",
- "autopodial extension phenotype",
- "digit",
+ "hematopoietic system",
+ "vascular system",
+ "nucleate cell",
+ "absent anatomical structure in the renal system",
+ "granulocyte",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormality of the integument",
+ "Abnormal bone marrow cell morphology",
+ "regional part of nervous system",
+ "Reticulocytopenia",
"Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "decreased length of material anatomical entity",
- "pectoral appendage musculature",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "organ system subdivision phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ part atresia",
- "anatomical entity atresia",
- "autopod region",
- "segment of autopod",
- "viscus phenotype",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "decreased length of digit 1",
- "regulation of cellular biosynthetic process",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "decreased length of limb endochondral element",
- "deviation of anatomical entity",
- "rectum atresia",
- "manus",
- "skeleton of manus",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "decreased size of the multicellular organism",
- "Short digit",
- "autopod region morphology phenotype",
- "Short thumb",
- "Abnormality of the hand",
+ "compound organ",
+ "Eukaryota",
+ "gonad phenotype",
+ "regulation of gene expression",
+ "localised multicellular anatomical structure",
+ "hemolymphoid system",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "arm bone",
+ "anatomical entity phenotype",
+ "bone of appendage girdle complex phenotype",
+ "oxygen accumulating cell",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "paired limb/fin segment",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "external male genitalia",
+ "Abnormality of the genitourinary system",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "skeletal element",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "localised reproductive organ",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
"anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "negative regulation of macromolecule metabolic process",
- "musculature of limb",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
+ "trunk phenotype",
+ "decreased number of leukocyte",
+ "skeleton of limb phenotype",
+ "absent compound organ",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "interphase",
+ "multi-tissue structure phenotype",
"upper urinary tract",
- "decreased length of digit 1 or 5",
+ "male organism",
+ "serotonin secreting cell",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "renal system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "organ phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "Renal hypoplasia/aplasia",
+ "skeletal element phenotype",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "sensory perception of sound",
+ "main body axis",
+ "brain phenotype",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "absent abdominal segment element",
"absent multicellular anatomical structure",
- "Deviation of the thumb",
- "deviation of manual digit 1",
- "decreased size of the manual digit",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
+ "decreased system process",
+ "abdominal segment element",
+ "musculoskeletal system",
+ "taxon specific phenotype",
+ "skull",
+ "decreased size of the anatomical structure",
+ "increased qualitatively biological_process",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "erythrocyte",
"absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "absent digit",
- "absent anatomical structure in the limb",
- "structure with developmental contribution from neural crest",
- "Abnormal heart morphology",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "thoracic segment organ",
- "Phenotypic abnormality",
- "forelimb long bone",
- "decreased height of the multicellular organism",
- "circulatory organ",
- "limb bone phenotype",
- "heart",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
+ "absent multicellular anatomical structure in the renal system",
+ "Microcephaly",
+ "number of platelet phenotype",
+ "circulatory disorder",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "abdominal segment of trunk",
"thoracic cavity element",
- "anatomical entity",
- "localised organ",
- "primary circulatory organ",
- "heart plus pericardium",
- "primary circulatory organ phenotype",
- "Absent thumb",
- "late embryo phenotype",
- "cardiovascular system morphology phenotype",
- "cardiovascular system phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "subdivision of tube atresia",
- "circulatory system",
- "Abnormality of the genital system",
+ "genitourinary system",
+ "continuant",
+ "neutrophil phenotype",
+ "eye movement phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
"thoracic segment organ phenotype",
- "biological_process",
- "negative regulation of metabolic process phenotype",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "Renal cyst",
- "pathological phenotype observation",
- "negative regulation of cellular biosynthetic process",
- "subdivision of digestive tract",
- "regulation of gene expression",
- "biological regulation phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "Abnormal renal morphology",
- "regulation of macromolecule biosynthetic process",
- "regulation of biosynthetic process phenotype",
- "Short forearm",
- "testis phenotype",
- "growth phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "homeostatic process",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "negative regulation of gene expression",
- "cell phenotype",
- "regulation of cellular process phenotype",
- "Abnormal cellular phenotype",
- "regulation of macromolecule metabolic process phenotype",
- "Abnormal cardiovascular system morphology",
- "regulation of cellular metabolic process",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "manual digit",
+ "Generalized abnormality of skin",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "absent anatomical structure in the multicellular organism",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "circulatory system",
+ "absent forelimb endochondral element in the forelimb",
"regulation of biological process",
- "negative regulation of biological process phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "External genital hypoplasia",
- "Growth delay",
- "subdivision of organism along appendicular axis phenotype",
+ "motile cell",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "skull phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal reproductive system morphology",
+ "forelimb zeugopod bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "absent cavitated compound organ",
+ "cardiovascular system morphology phenotype",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neutropenia",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "skin of body phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of metabolism/homeostasis",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
"entity",
- "growth",
- "Aplasia/hypoplasia involving bones of the extremities",
- "forelimb zeugopod phenotype",
- "Abnormality of body height",
- "regulation of gene expression phenotype",
+ "anatomical entity",
+ "Abnormal neutrophil count",
+ "absent compound organ in the renal system",
+ "trunk region element",
+ "upper limb segment phenotype",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "mesoderm-derived structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "number of anatomical enitites of type compound organ phenotype",
+ "Abnormal erythrocyte morphology",
+ "absent trunk region element",
+ "regulation of macromolecule metabolic process phenotype",
+ "absent abdominal segment element in the renal system",
+ "hematopoietic cell",
+ "leukocyte",
+ "absent bone of free limb or fin in the limb",
+ "renal system",
+ "appendicular skeletal system",
+ "absent lateral structure in the renal system",
+ "renal system morphology phenotype",
+ "limb phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "musculature phenotype",
+ "absent limb long bone",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "aplastic anatomical entity",
"delayed biological_process",
- "excretory system",
- "paired limb/fin segment",
- "multicellular organism height phenotype",
- "musculature of limb phenotype",
- "radius bone",
- "Short stature",
- "Abnormality of the thenar eminence",
- "muscle organ phenotype",
- "external soft tissue zone",
- "Abnormality of the musculature of the upper limbs",
- "appendage musculature",
- "appendage musculature phenotype",
- "external soft tissue zone phenotype",
- "anatomical structure physiology phenotype",
- "musculature of manus"
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "nervous system process",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "anatomical system phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "erythroid lineage cell",
+ "platelet",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms"
],
- "has_phenotype_count": 15,
+ "has_phenotype_count": 32,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0013499",
+ "id": "MONDO:0001083",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group P",
+ "name": "Fanconi renotubular syndrome",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
"xref": [
- "DOID:0111092",
- "GARD:15731",
- "MEDGEN:854020",
- "OMIM:613951",
- "UMLS:C3469542"
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCP",
- "Fanconi Anemia, complementation group type P",
- "Fanconi anaemia caused by mutation in SLX4",
- "Fanconi anaemia caused by mutation in Slx4",
- "Fanconi anaemia complementation group type P",
- "Fanconi anemia caused by mutation in SLX4",
- "Fanconi anemia caused by mutation in Slx4",
- "Fanconi anemia complementation group type P",
- "Fanconi anemia, complementation group P",
- "SLX4 Fanconi anaemia",
- "SLX4 Fanconi anemia",
- "Slx4 Fanconi anaemia",
- "Slx4 Fanconi anemia"
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0019391",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.",
+ "xref": [
+ "DOID:13636",
+ "GARD:6425",
+ "ICD9:284.09",
+ "MEDGEN:41967",
+ "MESH:D005199",
+ "MedDRA:10055206",
+ "NANDO:1200303",
+ "NANDO:1200891",
+ "NANDO:2200652",
+ "NCIT:C62505",
+ "NORD:1132",
+ "OMIMPS:227650",
+ "Orphanet:84",
+ "SCTID:30575002",
+ "UMLS:C0015625"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "Fanconi anemia",
+ "Fanconi pancytopenia",
+ "Fanconi panmyelopathy",
+ "Fanconi's anaemia",
+ "Fanconi's anemia",
+ "Panmyelopathy, Fanconi",
+ "pancytopenia, congenital",
+ "primary erythroid hypoplasia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001876",
+ "HP:0100867",
+ "HP:0100760",
+ "HP:0100587",
+ "HP:0100542",
+ "HP:0100026",
+ "HP:0040071",
+ "HP:0012639",
+ "HP:0012041",
+ "HP:0010469",
+ "HP:0010293",
+ "HP:0008678",
+ "HP:0000377",
+ "HP:0008053",
+ "HP:0007565",
+ "HP:0006824",
+ "HP:0006265",
+ "HP:0006101",
+ "HP:0005344",
+ "HP:0004349",
+ "HP:0004209",
+ "HP:0003022",
+ "HP:0002863",
+ "HP:0002827",
+ "HP:0002823",
+ "HP:0002575",
+ "HP:0002414",
+ "HP:0002251",
+ "HP:0002245",
+ "HP:0002119",
+ "HP:0002023",
+ "HP:0002007",
+ "HP:0001824",
+ "HP:0001770",
+ "HP:0001763",
+ "HP:0001760",
+ "HP:0001679",
+ "HP:0001646",
+ "HP:0001643",
+ "HP:0001639",
+ "HP:0001636",
+ "HP:0001631",
+ "HP:0001562",
+ "HP:0001537",
+ "HP:0001511",
+ "HP:0001510",
+ "HP:0001392",
+ "HP:0001347",
+ "HP:0001199",
+ "HP:0000864",
+ "HP:0000813",
+ "HP:0000639",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000520",
+ "HP:0000518",
+ "HP:0000505",
+ "HP:0000504",
+ "HP:0000492",
+ "HP:0000486",
+ "HP:0000483",
+ "HP:0000478",
+ "HP:0000453",
+ "HP:0000365",
+ "HP:0000364",
"HP:0000347",
- "HP:0002984",
+ "HP:0000340",
+ "HP:0000324",
+ "HP:0000316",
+ "HP:0000286",
+ "HP:0000268",
+ "HP:0000238",
+ "HP:0000218",
+ "HP:0000175",
+ "HP:0000135",
+ "HP:0000130",
+ "HP:0000083",
+ "HP:0000072",
+ "HP:0000047",
+ "HP:0000035",
"HP:0000028",
- "HP:0009778",
- "HP:0001510",
- "HP:0000125",
- "HP:0009777",
- "HP:0000414",
- "HP:0000957",
- "HP:0001903",
+ "HP:0000027",
+ "HP:0000010",
"HP:0012745",
- "HP:0000085",
- "HP:0000581",
- "HP:0003221",
- "HP:0002860",
- "HP:0004322",
- "HP:0000365",
+ "HP:0012210",
+ "HP:0007874",
+ "HP:0002664",
+ "HP:0002650",
+ "HP:0001671",
+ "HP:0001263",
+ "HP:0001249",
"HP:0000252",
- "HP:0001045"
+ "HP:0000079",
+ "HP:0007400",
+ "HP:0006501",
+ "HP:0005522",
+ "HP:0004322",
+ "HP:0003220",
+ "HP:0002817",
+ "HP:0001903",
+ "HP:0001882",
+ "HP:0001873",
+ "HP:0001871",
+ "HP:0001172",
+ "HP:0001053",
+ "HP:0001000",
+ "HP:0000508"
],
"has_phenotype_label": [
- "Pancytopenia",
+ "Duodenal stenosis",
+ "Clubbing of toes",
+ "Abnormal preputium morphology",
+ "Abnormal localization of kidney",
+ "Arteriovenous malformation",
+ "Abnormal morphology of ulna",
+ "Abnormal nervous system morphology",
+ "Decreased fertility in males",
+ "Absent testis",
+ "Aplasia/Hypoplasia of the uvula",
+ "Renal hypoplasia/aplasia",
+ "Abnormal pinna morphology",
+ "Aplasia/Hypoplasia of the iris",
+ "Multiple cafe-au-lait spots",
+ "Cranial nerve paralysis",
+ "Aplasia/Hypoplasia of fingers",
+ "Finger syndactyly",
+ "Abnormal carotid artery morphology",
+ "Reduced bone mineral density",
+ "Clinodactyly of the 5th finger",
+ "Hypoplasia of the ulna",
+ "Myelodysplasia",
+ "Hip dislocation",
+ "Abnormal femur morphology",
+ "Tracheoesophageal fistula",
+ "Spina bifida",
+ "Aganglionic megacolon",
+ "Meckel diverticulum",
+ "Ventriculomegaly",
+ "Anal atresia",
+ "Frontal bossing",
+ "Weight loss",
+ "Toe syndactyly",
+ "Pes planus",
+ "Abnormal foot morphology",
+ "Abnormal aortic morphology",
+ "Abnormal aortic valve morphology",
+ "Patent ductus arteriosus",
+ "Hypertrophic cardiomyopathy",
+ "Tetralogy of Fallot",
+ "Atrial septal defect",
+ "Oligohydramnios",
+ "Umbilical hernia",
+ "Intrauterine growth retardation",
+ "Growth delay",
+ "Abnormality of the liver",
+ "Hyperreflexia",
+ "Triphalangeal thumb",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "Bicornuate uterus",
+ "Nystagmus",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Proptosis",
+ "Cataract",
+ "Visual impairment",
+ "Abnormality of vision",
+ "Abnormal eyelid morphology",
+ "Strabismus",
+ "Astigmatism",
+ "Abnormality of the eye",
+ "Choanal atresia",
+ "Hearing impairment",
+ "Hearing abnormality",
"Micrognathia",
- "Hypoplasia of the radius",
+ "Sloping forehead",
+ "Facial asymmetry",
+ "Hypertelorism",
+ "Epicanthus",
+ "Dolichocephaly",
+ "Hydrocephalus",
+ "High palate",
+ "Cleft palate",
+ "Hypogonadism",
+ "Abnormality of the uterus",
+ "Renal insufficiency",
+ "Hydroureter",
+ "Hypospadias",
+ "Abnormal testis morphology",
"Cryptorchidism",
- "Short thumb",
- "Growth delay",
- "Pelvic kidney",
- "Absent thumb",
- "Bulbous nose",
- "Cafe-au-lait spot",
- "Anemia",
+ "Azoospermia",
+ "Recurrent urinary tract infections",
"Short palpebral fissure",
- "Horseshoe kidney",
- "Blepharophimosis",
- "Chromosomal breakage induced by crosslinking agents",
- "Squamous cell carcinoma",
- "Short stature",
- "Hearing impairment",
+ "Abnormal renal morphology",
+ "Almond-shaped palpebral fissure",
+ "Neoplasm",
+ "Scoliosis",
+ "Abnormal cardiac septum morphology",
+ "Global developmental delay",
+ "Intellectual disability",
"Microcephaly",
- "Vitiligo"
+ "Abnormality of the urinary system",
+ "Irregular hyperpigmentation",
+ "Aplasia/Hypoplasia of the radius",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "Short stature",
+ "Abnormality of chromosome stability",
+ "Abnormality of the upper limb",
+ "Anemia",
+ "Leukopenia",
+ "Thrombocytopenia",
+ "Abnormality of blood and blood-forming tissues",
+ "Abnormal thumb morphology",
+ "Hypopigmented skin patches",
+ "Abnormality of skin pigmentation",
+ "Ptosis"
],
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "NCBITaxon:2759",
- "HP:0012443",
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
+ "UPHENO:0077889",
+ "CL:0000233",
+ "CL:0000225",
+ "HP:0001872",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
+ "HP:0001881",
+ "UPHENO:0063722",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
+ "UPHENO:0088337",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
+ "HP:0011017",
+ "HP:0001939",
+ "UPHENO:0075159",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
+ "HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
+ "HP:0001903",
+ "GO:0030218",
+ "GO:0030097",
+ "CL:0000764",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
+ "UPHENO:0080187",
+ "HP:0002818",
+ "HP:0006501",
"HP:0007364",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "UPHENO:0076805",
- "HP:0002011",
- "UPHENO:0003001",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "UPHENO:0076791",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UPHENO:0050106",
- "UPHENO:0005437",
- "UPHENO:0003412",
+ "HP:0000252",
+ "UPHENO:0075220",
+ "HP:0000240",
+ "GO:0050890",
+ "HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
+ "HP:0200005",
+ "UPHENO:0046487",
+ "UPHENO:0046755",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
+ "UPHENO:0085874",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
+ "UPHENO:0052965",
+ "UPHENO:0002599",
+ "UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
+ "UBERON:0004054",
+ "CL:0000015",
+ "CL:0000408",
+ "UPHENO:0049940",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
+ "UPHENO:0078452",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
+ "UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
+ "UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
+ "UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
+ "UBERON:0001333",
+ "UBERON:0036295",
+ "UBERON:0006555",
+ "HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "HP:0012211",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
+ "HP:5201015",
+ "UPHENO:0033592",
+ "UPHENO:0033587",
+ "UPHENO:0063527",
+ "UPHENO:0063515",
+ "UPHENO:0001392",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
+ "UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
+ "UPHENO:0014240",
+ "UPHENO:0011531",
+ "HP:0000238",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
+ "UPHENO:0001231",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0072332",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
+ "UPHENO:0072195",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0084729",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
+ "HP:0011821",
+ "UPHENO:0080087",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
+ "UPHENO:0050234",
"UPHENO:0005513",
- "UPHENO:0052160",
- "UPHENO:0002352",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
+ "UBERON:0010425",
+ "UBERON:0005726",
+ "UPHENO:0005230",
+ "UBERON:0000004",
+ "HP:0005105",
+ "UPHENO:0003048",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
+ "UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
+ "UBERON:0010409",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
+ "UBERON:0000015",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
"UPHENO:0050620",
- "HP:0000364",
- "UPHENO:0005512",
- "UPHENO:0050234",
- "UPHENO:0002308",
- "UPHENO:0005433",
- "UPHENO:0002240",
- "UBERON:0000955",
+ "UPHENO:0004621",
"UPHENO:0052165",
- "UPHENO:0002903",
- "UBERON:0002105",
- "HP:0031704",
- "UPHENO:0002211",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
+ "HP:0000518",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
+ "UPHENO:0076761",
+ "HP:0000520",
+ "UBERON:0003840",
+ "UBERON:0035639",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
+ "UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
+ "UPHENO:0076766",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
+ "UBERON:0013515",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
+ "UPHENO:0075995",
+ "UPHENO:0003069",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
+ "UBERON:0012151",
+ "HP:0001172",
+ "UPHENO:0051276",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
+ "UPHENO:0049622",
+ "NBO:0000001",
+ "UPHENO:0002941",
+ "NBO:0000403",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
+ "UPHENO:0050079",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
+ "UPHENO:0002780",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
+ "UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0052160",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
+ "UPHENO:0005642",
+ "HP:0001511",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
+ "UPHENO:0033610",
+ "UPHENO:0033615",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
+ "UPHENO:0002532",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
+ "UPHENO:0003827",
+ "HP:0011994",
+ "UPHENO:0086857",
+ "UBERON:0002081",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
+ "HP:0011563",
+ "UBERON:0000473",
+ "HP:0011545",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
+ "UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
+ "UPHENO:0004724",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
+ "UPHENO:0033581",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
+ "UBERON:0018674",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
+ "UPHENO:0005134",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
+ "UBERON:0003498",
+ "UPHENO:0002948",
+ "HP:0000347",
+ "UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
+ "UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
+ "HP:0000365",
+ "UPHENO:0033579",
+ "HP:0000478",
+ "UPHENO:0005177",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
+ "UPHENO:0086866",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "HP:0004348",
+ "UPHENO:0046465",
+ "UPHENO:0076743",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
+ "UPHENO:0005118",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
+ "UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
+ "UPHENO:0041098",
+ "GO:0009888",
+ "UPHENO:0041041",
+ "UPHENO:0084767",
+ "HP:0001770",
+ "UPHENO:0078347",
+ "HP:0004325",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
+ "UPHENO:0010795",
"GO:0007605",
- "UPHENO:0002267",
- "UPHENO:0080351",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "HP:0002664",
- "HP:0008069",
- "HP:0001045",
- "HP:0011793",
- "HP:0002860",
- "GO:0060255",
- "UPHENO:0081424",
- "GO:0031323",
- "UPHENO:0050126",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050007",
- "GO:0032501",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
+ "HP:0001507",
+ "HP:0002683",
+ "UPHENO:0002700",
+ "UPHENO:0002815",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
"UPHENO:0049904",
- "UPHENO:0050784",
- "GO:0019222",
- "UPHENO:0049620",
- "GO:0010556",
- "GO:0009890",
- "GO:0031324",
- "UPHENO:0050065",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "GO:0031049",
- "GO:0050789",
- "HP:0000581",
- "UPHENO:0041226",
- "UPHENO:0041629",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
+ "UBERON:0004766",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
+ "UPHENO:0003034",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
+ "UBERON:0000020",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
+ "UPHENO:0033607",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
+ "UBERON:0005983",
+ "UBERON:0001638",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
"UPHENO:0080300",
- "UPHENO:0075997",
- "UPHENO:0046487",
- "UBERON:0000047",
- "UPHENO:0005319",
- "UPHENO:0075198",
- "HP:0002060",
- "HP:0030669",
- "UPHENO:0069119",
- "HP:0012745",
- "UPHENO:0046753",
- "UBERON:0000970",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001711",
- "UBERON:0001819",
- "UPHENO:0004757",
- "UPHENO:0068914",
- "UPHENO:0046755",
- "UPHENO:0002812",
- "UPHENO:0005097",
- "UPHENO:0041465",
- "HP:0000315",
- "GO:0008152",
- "UPHENO:0002643",
- "UPHENO:0076761",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "HP:0012130",
- "UPHENO:0088162",
- "GO:0031327",
- "UBERON:0002199",
- "HP:0001034",
- "HP:0007400",
- "HP:0000957",
- "UPHENO:0003410",
- "HP:0011121",
- "UPHENO:0003811",
- "UPHENO:0074584",
- "GO:0065007",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "GO:0010605",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0040012",
- "UBERON:0002416",
- "UPHENO:0080377",
- "UPHENO:0002727",
- "UBERON:0001032",
- "UPHENO:0084715",
- "GO:0009889",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
+ "HP:0410043",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
+ "UBERON:0008001",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
+ "HP:0012443",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
+ "UBERON:0007832",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
+ "UBERON:0002049",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
+ "UBERON:0001734",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
"HP:0000366",
- "UBERON:0034929",
- "UPHENO:0002837",
- "UBERON:0000073",
- "UPHENO:0002722",
- "UPHENO:0050778",
- "UPHENO:0002907",
- "UPHENO:0002005",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
+ "UPHENO:0068971",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
+ "UBERON:0001890",
+ "UBERON:0019221",
+ "UBERON:0012141",
+ "HP:0000268",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
+ "UPHENO:0086628",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
"UPHENO:0001025",
- "UPHENO:0050040",
- "UPHENO:0001217",
- "UBERON:0002268",
- "UPHENO:0082875",
- "UBERON:0012128",
- "UPHENO:0087950",
- "UPHENO:0005518",
- "UPHENO:0001279",
- "UBERON:0007827",
- "UPHENO:0087430",
- "UPHENO:0002962",
- "UBERON:0000466",
- "HP:0000436",
- "UPHENO:0002715",
- "UPHENO:0001134",
- "UPHENO:0001912",
- "UBERON:0006983",
- "UPHENO:0001360",
- "UPHENO:0084727",
- "UPHENO:0026643",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0008548",
- "UPHENO:0081466",
- "UPHENO:0027017",
- "UPHENO:0025585",
- "UPHENO:0009146",
- "UPHENO:0080325",
- "UPHENO:0026146",
- "UPHENO:0026181",
- "UPHENO:0009020",
- "UPHENO:0009209",
- "UPHENO:0008668",
- "UPHENO:0025587",
- "UPHENO:0009163",
- "UPHENO:0025507",
- "UPHENO:0026010",
- "UPHENO:0025509",
- "UPHENO:0011825",
- "UPHENO:0009382",
- "HP:0100547",
- "UPHENO:0053643",
- "UPHENO:0081451",
- "HP:0000079",
- "UBERON:0003103",
- "UBERON:0010708",
- "UPHENO:0005596",
- "UPHENO:0088186",
- "UPHENO:0052231",
- "CL:0000764",
- "UPHENO:0053588",
- "UPHENO:0002782",
- "UPHENO:0002945",
- "UPHENO:0086633",
- "HP:0011893",
- "UPHENO:0046471",
- "BFO:0000141",
- "UBERON:0003129",
- "HP:0025033",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0002942",
- "UPHENO:0002731",
- "UPHENO:0026640",
- "UPHENO:0002815",
- "UPHENO:0088116",
- "UBERON:0007842",
+ "UPHENO:0002952",
+ "UPHENO:0086699",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
+ "UPHENO:0002903",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
"HP:0033127",
- "UPHENO:0088168",
- "UPHENO:0002559",
- "UBERON:0004111",
- "UPHENO:0003082",
- "UBERON:0000025",
- "UPHENO:0069163",
- "HP:0009115",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
+ "UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
+ "HP:0002060",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
+ "HP:0000957",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
+ "UPHENO:0081424",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
+ "UPHENO:0004962",
"UBERON:0002204",
- "UBERON:0011156",
- "UBERON:0000465",
- "UPHENO:0081566",
- "UPHENO:0002386",
- "UPHENO:0076675",
- "UPHENO:0050063",
- "UPHENO:0087472",
- "GO:0010468",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
+ "UBERON:0004122",
+ "UPHENO:0002635",
+ "UBERON:0000173",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
+ "UPHENO:0054957",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
+ "BFO:0000015",
+ "GO:0043473",
+ "UPHENO:0002585",
+ "UPHENO:0004064",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
+ "UBERON:0002416",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0002601",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
+ "UPHENO:0003410",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
+ "UBERON:0010740",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
+ "UPHENO:0081581",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
+ "UBERON:0003129",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
+ "UBERON:0006598",
"UBERON:0010758",
- "UPHENO:0075944",
- "UBERON:0004381",
- "UBERON:0005173",
- "UPHENO:0004434",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0003004",
- "UPHENO:0081788",
- "HP:0031816",
- "UBERON:0001456",
- "UPHENO:0081091",
- "UPHENO:0002928",
- "HP:0009121",
- "UBERON:0002417",
- "UPHENO:0075220",
- "HP:0005105",
- "UBERON:0011676",
- "UPHENO:0001072",
- "UPHENO:0002868",
- "HP:0009380",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UBERON:0013522",
+ "UBERON:0001486",
"UPHENO:0002949",
- "UPHENO:0002994",
- "UBERON:0003101",
- "HP:0034261",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0080079",
- "UBERON:0001463",
- "UBERON:0011137",
- "UPHENO:0002668",
- "UPHENO:0046392",
- "UBERON:0010323",
- "UPHENO:3000000",
- "UPHENO:0069064",
- "UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0002523",
- "UPHENO:0000543",
- "UBERON:0000064",
- "UPHENO:0084448",
- "UPHENO:0002772",
- "HP:0006503",
- "UPHENO:0046396",
- "UPHENO:0002526",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0002750",
- "UBERON:0000165",
- "UPHENO:0084457",
- "CL:0000000",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "UBERON:0000161",
- "UPHENO:0002531",
- "UPHENO:0002650",
- "HP:0000234",
- "HP:0200007",
- "HP:0009118",
- "UPHENO:0002732",
- "GO:0050877",
- "UPHENO:0069194",
- "UBERON:0000033",
- "UPHENO:0087123",
- "CL:0000081",
- "UPHENO:0005517",
- "UPHENO:0081141",
- "HP:0009826",
- "GO:0042592",
- "UPHENO:0001135",
- "UBERON:0011595",
- "UPHENO:0002940",
- "HP:0009116",
- "UPHENO:0002530",
- "GO:0009892",
- "UBERON:0003133",
- "UPHENO:0002682",
- "UBERON:0005177",
- "UBERON:0001444",
- "UBERON:0001007",
- "UBERON:0010703",
- "UBERON:0011158",
- "UPHENO:0080352",
- "UBERON:0010314",
- "UPHENO:0053559",
+ "HP:0001367",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
"UBERON:0000467",
- "UPHENO:0084761",
- "CL:0000458",
- "UPHENO:0046707",
- "UPHENO:0003088",
- "HP:0025031",
- "UPHENO:0046552",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0009601",
- "UPHENO:3000004",
- "UPHENO:0079876",
- "UPHENO:0002550",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0002736",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "CL:0000233",
- "PATO:0000001",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
+ "UPHENO:0002360",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
+ "HP:0001373",
+ "UBERON:0017672",
+ "HP:0000818",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
"UBERON:0002193",
- "BFO:0000040",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0003135",
- "UPHENO:0069562",
- "UBERON:0004768",
- "HP:0001510",
- "UBERON:0007811",
- "UBERON:0012360",
- "UPHENO:0063794",
- "CL:0000219",
- "HP:0011873",
- "UPHENO:0053572",
- "HP:0009122",
- "HP:0020047",
- "UBERON:0002091",
- "UPHENO:0002761",
- "UBERON:0001708",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0003466",
- "UPHENO:0075878",
- "HP:0011821",
- "HP:0001872",
- "HP:0000492",
- "HP:0002817",
- "HP:0025354",
- "HP:0011844",
- "HP:0001876",
- "CL:0001035",
- "UPHENO:0002909",
- "UPHENO:0002964",
- "UBERON:0005451",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
+ "UPHENO:0088186",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
+ "UPHENO:0046552",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UBERON:0000064",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
"UPHENO:0077391",
- "HP:0011297",
- "UBERON:0002113",
- "UPHENO:0005104",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "UBERON:0002389",
- "UPHENO:0086700",
- "CL:0000457",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UBERON:0011143",
- "UBERON:0001684",
- "UPHENO:0053580",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UBERON:0002529",
- "UPHENO:0080010",
- "HP:0008050",
- "UPHENO:0003093",
- "CL:0000232",
- "HP:0000119",
- "UPHENO:0075804",
- "UPHENO:0046528",
- "UBERON:0010000",
- "HP:0009821",
- "UPHENO:0086589",
- "UBERON:0002371",
- "UPHENO:0011498",
- "UBERON:0000061",
- "UPHENO:0002738",
- "CL:0002242",
- "UPHENO:0002385",
- "UBERON:0010363",
- "UBERON:0002470",
- "UBERON:0003113",
- "UBERON:0002090",
- "UPHENO:0001001",
- "UBERON:0005172",
- "UBERON:0000475",
- "UBERON:0015203",
- "HP:0040064",
- "UPHENO:0083646",
- "UPHENO:0063722",
- "UBERON:0007914",
- "CL:0000225",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
+ "HP:0001053",
+ "UPHENO:0084734",
"UPHENO:0049699",
- "UPHENO:0002554",
- "UPHENO:0054970",
- "HP:0000414",
- "UBERON:0001440",
- "UBERON:0011216",
- "HP:0012639",
- "UPHENO:0002818",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
+ "UBERON:0000165",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
+ "UPHENO:0072415",
"UPHENO:0069327",
- "UPHENO:0088166",
- "UPHENO:0002870",
- "UPHENO:0002967",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0085302",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "CL:0000738",
- "UBERON:0011138",
- "UPHENO:0012308",
- "CL:0000988",
- "UBERON:0000075",
- "UPHENO:0049703",
- "BFO:0000004",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "GO:0050954",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
"UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0010313",
- "UPHENO:0053561",
- "UPHENO:0069605",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UPHENO:0053601",
- "UBERON:0002398",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0077348",
- "GO:0040007",
- "BFO:0000001",
- "HP:0000252",
- "UBERON:0011159",
- "UPHENO:0012274",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UPHENO:0002746",
- "UPHENO:0004625",
- "UPHENO:0002948",
- "HP:0000028",
- "UPHENO:0002988",
- "UPHENO:0077418",
- "HP:0000365",
- "UBERON:0034923",
- "UPHENO:0086172",
- "UBERON:0000479",
- "UPHENO:0002833",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0000079",
- "UPHENO:0002859",
- "UBERON:0002513",
- "UBERON:0001015",
- "UPHENO:0085344",
- "UPHENO:0069684",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "HP:0001873",
- "UPHENO:0011572",
- "CL:0000255",
- "HP:0001871",
+ "UPHENO:0002553",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
+ "UPHENO:0063558",
+ "HP:0000172",
+ "UPHENO:0002659",
+ "UBERON:0007828",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
"HP:0000271",
- "UBERON:0004053",
- "UPHENO:0046750",
- "UBERON:0000383",
- "HP:0001939",
- "GO:0043473",
- "HP:0010987",
- "UPHENO:0005092",
- "UBERON:8450002",
- "UBERON:0000019",
- "CL:0002092",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
+ "UPHENO:0005058",
+ "HP:0033353",
+ "UPHENO:0002732",
+ "UBERON:0004456",
+ "UBERON:0011595",
+ "UBERON:0002553",
"UBERON:0002514",
- "UBERON:0001434",
- "UPHENO:0002944",
- "UPHENO:0052970",
- "UPHENO:0052161",
- "UPHENO:0002832",
- "UPHENO:0081581",
- "HP:0000924",
- "UBERON:0013701",
- "UPHENO:0053644",
- "UPHENO:0002828",
- "UBERON:0004921",
- "HP:0012145",
- "HP:0002692",
- "UPHENO:0080126",
- "UPHENO:0002754",
- "UPHENO:0018390",
- "HP:0000118",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UBERON:0000062",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
+ "UBERON:0001444",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
"HP:0000035",
- "UPHENO:0041075",
- "UPHENO:0026108",
- "UBERON:0002102",
- "HP:0000277",
- "UPHENO:0076703",
- "UBERON:0013765",
+ "HP:0011842",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
+ "UPHENO:0002909",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
+ "UPHENO:0002719",
+ "HP:0010866",
+ "UPHENO:0015277",
+ "UBERON:0000025",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
"UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0005008",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002548",
- "HP:0000086",
- "HP:0000153",
- "HP:0006501",
- "UPHENO:0046479",
- "UPHENO:0080087",
- "UPHENO:0002926",
- "UPHENO:0080165",
- "UBERON:0003462",
- "UBERON:0003278",
- "UBERON:0003457",
- "HP:0002977",
- "UBERON:0008907",
- "UPHENO:0002553",
- "UPHENO:0068941",
- "UPHENO:0049874",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
+ "UBERON:5002544",
+ "HP:0002011",
+ "UBERON:0000479",
+ "HP:0000119",
+ "UPHENO:0063565",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
"UBERON:0010741",
- "UBERON:0002471",
- "UPHENO:0087924",
- "UPHENO:0003005",
- "HP:0100542",
- "UPHENO:0053612",
- "UBERON:0004756",
- "UBERON:0008785",
- "UPHENO:0026506",
- "UBERON:0004708",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
+ "HP:0001871",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
+ "UPHENO:0002713",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
"UPHENO:0069047",
- "HP:0005922",
- "UPHENO:0079872",
+ "UPHENO:0014971",
+ "UPHENO:0002964",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
+ "UBERON:0005893",
+ "UPHENO:0003413",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
+ "HP:0100790",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
"UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0046445",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
+ "UBERON:0002113",
"UBERON:0013702",
- "UPHENO:0069046",
- "HP:0009824",
- "UBERON:0004288",
- "HP:0000929",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0004523",
- "UPHENO:0046455",
- "UPHENO:0002875",
- "UPHENO:0075195",
- "UPHENO:0053619",
- "UPHENO:0069674",
- "UPHENO:0069030",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "HP:0040070",
- "UPHENO:0052178",
- "UBERON:0011582",
- "UBERON:0001710",
- "UBERON:5002544",
- "UBERON:0011584",
- "UBERON:0004120",
- "HP:0005561",
- "UBERON:0000026",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0003065",
- "UPHENO:0054957",
- "UBERON:0002495",
- "UBERON:0002386",
- "UPHENO:0003812",
- "UPHENO:0002546",
- "UPHENO:0087501",
- "HP:0009815",
- "UPHENO:0002594",
- "UPHENO:0076739",
- "UPHENO:0002733",
- "HP:0005773",
- "UPHENO:0046484",
- "UPHENO:0087349",
- "UBERON:0003460",
- "UPHENO:0002719",
- "UBERON:0007272",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0015021",
- "HP:0003026",
- "UPHENO:0002659",
- "HP:0040068",
- "UPHENO:0069292",
- "UBERON:0004765",
- "UPHENO:0005106",
- "RO:0002577",
- "UBERON:0011249",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
+ "UBERON:0010000",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
+ "UBERON:0001436",
"UBERON:0012475",
- "UBERON:0005156",
- "UBERON:0010712",
- "UPHENO:0081314",
- "UPHENO:0086956",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
+ "UBERON:5102389",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
+ "UBERON:0000475",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
+ "UPHENO:0075902",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
+ "HP:0100760",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
"UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
+ "UPHENO:0046505",
+ "UPHENO:0002859",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
"UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0046465",
- "UBERON:0003606",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
+ "UPHENO:0002926",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
+ "GO:0048729",
+ "GO:0019953",
+ "UPHENO:0018390",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
"HP:0001574",
- "UPHENO:0049587",
- "UBERON:0015001",
- "HP:0002715",
- "UPHENO:0002969",
- "HP:0001172",
- "UBERON:0008962",
- "UPHENO:0046472",
- "UPHENO:0046540",
- "UPHENO:0068838",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0003514",
- "UBERON:0000991",
- "UPHENO:0003095",
- "UPHENO:0076718",
- "UBERON:0012141",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
+ "UPHENO:0002976",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
"UPHENO:0003049",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UBERON:0006058",
- "UPHENO:0002861",
- "UBERON:0015061",
- "UPHENO:0068912",
- "UPHENO:0046538",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0046403",
- "UPHENO:0075890",
- "UPHENO:0068921",
- "UPHENO:0046405",
- "GO:0008150",
- "UPHENO:0002880",
- "GO:0050794",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "HP:0045060",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UBERON:0001008",
- "HP:0000077",
- "HP:0032251",
- "HP:0011314",
- "HP:0006496",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0002866",
- "UBERON:0002101",
- "UPHENO:0046483",
+ "UBERON:0004921",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
+ "UBERON:0010323",
+ "UBERON:0002102",
+ "HP:0000277",
+ "UPHENO:0087006",
"GO:0003008",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0076800",
- "UPHENO:0003227",
- "HP:0002984",
- "HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UBERON:0010740",
- "UBERON:0003607",
- "UBERON:0001423",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0010364",
- "UBERON:0000916",
- "UPHENO:0046460",
- "UPHENO:0069062",
- "UPHENO:0053563",
- "UPHENO:0012440",
- "HP:0002973",
- "UBERON:0004456",
- "UPHENO:0068932",
- "UPHENO:0011536",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0010707",
- "UPHENO:0002595",
- "CL:0000151",
- "HP:0009778",
- "UPHENO:0053647",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
+ "UPHENO:0049874",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
+ "UPHENO:0046405",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
+ "HP:0100542",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
+ "UBERON:0000045",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
+ "UPHENO:0069030",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
+ "RO:0002577",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
"UPHENO:0053632",
- "UBERON:0000990",
- "UPHENO:0002976",
- "UBERON:0004122",
- "UPHENO:0003056",
- "UPHENO:0081423",
- "UPHENO:0005016",
- "UPHENO:0003085",
- "UPHENO:0004494",
- "UBERON:0000473",
- "UPHENO:0087907",
- "UPHENO:0053571",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0000951",
- "UBERON:0004176",
- "HP:0010938",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
"UBERON:0015212",
- "HP:0000078",
- "UPHENO:0002685",
- "UPHENO:0005025",
- "HP:0000811",
- "UPHENO:0049775",
- "UPHENO:0000541",
- "UPHENO:0069254",
- "UPHENO:0049757",
- "UPHENO:0002597",
- "HP:0010461",
- "UPHENO:0002642",
- "HP:0001507",
- "HP:0012243",
- "UPHENO:0002971",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
"UBERON:0010538",
- "UPHENO:0053566",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
+ "UBERON:0000062",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
+ "HP:0000079",
+ "UBERON:0012358",
+ "UPHENO:0003432",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
+ "UPHENO:0076703",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
"UPHENO:0041821",
- "HP:0000032",
- "UBERON:0004742",
- "UPHENO:0003055",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0002905",
- "HP:0006265",
- "UPHENO:0004476",
- "HP:0012733",
- "UBERON:0002544",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "CL:0000763",
- "UPHENO:0003069",
- "HP:0000347",
- "HP:0011927",
- "UPHENO:0087427",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0081786",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
"UPHENO:0086595",
- "UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
- "UPHENO:0080114",
- "UBERON:0001460",
- "UBERON:0019221",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0050625",
- "GO:0031326",
- "BFO:0000003",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0076803",
- "HP:0030791",
- "UPHENO:0003094",
- "HP:0010935",
- "UBERON:0001474",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
"UPHENO:0002803",
- "HP:0000598",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UBERON:0000004",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0002632",
- "UBERON:0000489"
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518"
],
"has_phenotype_closure_label": [
- "Vitiligo",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "nervous system",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "size of skull phenotype",
- "Abnormal nervous system morphology",
- "brain phenotype",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
+ "Hypopigmented skin patches",
+ "serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
+ "decreased number of material anatomical entity in the multicellular organism",
+ "decreased number of cell",
+ "nucleate cell",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
+ "Abnormal immune system morphology",
+ "number of hematopoietic cell phenotype",
+ "decreased number of anatomical structure",
+ "Abnormal leukocyte morphology",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
+ "metabolic process",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
+ "Abnormal erythrocyte morphology",
+ "erythroid lineage cell morphology phenotype",
+ "blood cell phenotype",
+ "Anemia of inadequate production",
+ "blood cell",
+ "erythrocyte differentiation",
+ "Abnormal morphology of the radius",
+ "radius bone phenotype",
+ "radius bone",
"Aplasia/Hypoplasia involving the central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "organism",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "central nervous system",
- "multi-tissue structure",
- "central nervous system phenotype",
- "forebrain morphology phenotype",
"Abnormal cerebral morphology",
- "anatomical structure physiology phenotype",
- "decreased multicellular organismal process",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
+ "cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
+ "Scoliosis",
+ "Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "decreased size of the orifice",
+ "immune system",
+ "immune system phenotype",
+ "cellular developmental process",
+ "Recurrent urinary tract infections",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
+ "absent anatomical entity in the multicellular organism",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
+ "absent anatomical entity in the semen",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
+ "absent gamete",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
+ "male reproductive organ physiology phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "localised gonad",
+ "male urethral meatus",
+ "urethra phenotype",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
+ "urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
+ "Abnormal ureter morphology",
+ "Hydroureter",
+ "excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
+ "abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
+ "reproductive structure physiology phenotype",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
+ "incomplete closing of the ectoderm-derived structure",
+ "incomplete closing of the neural crest-derived structure",
+ "incomplete closing of the multi-tissue structure",
+ "incomplete closing of the secondary palate",
+ "increased height of the anatomical entity",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
+ "increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
+ "increased height of the secondary palate",
+ "cerebrospinal fluid",
+ "cerebrospinal fluid phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
+ "increased number of organ part in the cerebrospinal fluid",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
+ "increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
+ "increased length of the anatomical structure",
+ "zone of skin",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "anatomical line phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "non-material anatomical boundary phenotype",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
+ "asymmetry of face phenotype",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "dentary",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
+ "jaw skeleton morphology phenotype",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
"decreased qualitatively sensory perception of sound",
+ "sensory perception of mechanical stimulus phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
+ "olfactory system",
+ "chemosensory system",
+ "shape anatomical entity",
+ "naris atresia",
+ "naris",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
+ "cornea phenotype",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
+ "neural crest-derived structure, asymmetrically curved phenotype",
+ "incomplete closing of the organ",
+ "multicellular anatomical structure, asymmetrically curved phenotype",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
+ "structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
"decreased sensory perception of sound",
- "sensory perception of sound",
- "organ physiology phenotype",
- "ear physiology phenotype",
- "material anatomical entity physiology phenotype",
- "structure with developmental contribution from neural crest physiology phenotype",
- "Microcephaly",
- "sensory perception phenotype",
- "Hearing abnormality",
- "system process phenotype",
- "multicellular anatomical structure physiology phenotype",
- "decreased biological_process",
+ "asymmetrically curved anatomical entity",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
+ "Strabismus",
+ "decreased qualitatively sensory perception of light stimulus",
+ "skeleton of limb phenotype",
"sensory perception",
- "Abnormality of the ear",
- "nervous system process",
- "decreased sensory perception",
- "decreased qualitatively multicellular organismal process",
- "decreased system process",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
+ "opaque lens of camera-type eye",
+ "lens of camera-type eye morphology phenotype",
"anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Neoplasm",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "negative regulation of metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "negative regulation of macromolecule metabolic process phenotype",
- "negative regulation of gene expression phenotype",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of biosynthetic process phenotype",
- "regulation of cellular biosynthetic process",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "Abnormality of the nervous system",
- "decreased qualitatively system process",
- "biological regulation phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "negative regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process phenotype",
- "Blepharophimosis",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "Abnormal size of the palpebral fissures",
- "decreased length of ectoderm-derived structure",
- "visual system",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
+ "transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
+ "protruding eyeball of camera-type eye",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
+ "palpebral fissure",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
+ "cranial nerve related reflex",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
+ "Nystagmus",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
"camera-type eye",
- "decreased size of the ectoderm-derived structure",
+ "Abnormality of the uterus",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
+ "internal female genitalia",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
+ "female reproductive organ morphology phenotype",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
+ "bicornuate uterus",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
+ "hypothalamus-pituitary axis",
+ "manual digit 1 morphology phenotype",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "manual digit 1",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
+ "phalanx of manus",
+ "nervous system process",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
+ "gland phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
"multi organ part structure phenotype",
- "eye",
- "orbital region",
- "palpebral fissure phenotype",
+ "gland",
+ "decreased developmental process",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organismal process phenotype",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
+ "Growth delay",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
+ "umbilicus morphology phenotype",
+ "tissue phenotype",
+ "herniated abdominal wall",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
+ "Hernia of the abdominal wall",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
+ "amniotic fluid",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
+ "organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
+ "organism substance",
+ "late embryo phenotype",
+ "Abnormality of the amniotic fluid",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
+ "late embryo",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
+ "incomplete closing of the interatrial septum",
+ "cardiac septum morphology phenotype",
+ "Abnormal atrial septum morphology",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
+ "Conotruncal defect",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
"orbital region phenotype",
+ "layer of muscle tissue",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the myocardium",
+ "heart layer morphology phenotype",
+ "heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
+ "organ part physiology phenotype",
+ "decreased functionality of the organ part",
+ "myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
+ "mesoderm-derived structure physiology phenotype",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
+ "incomplete closing of the thoracic segment blood vessel",
+ "conceptus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
+ "incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
+ "anatomical entity morphology in the heart phenotype",
+ "uterus morphology phenotype",
+ "valve",
+ "anatomical structure",
+ "heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
+ "left cardiac chamber phenotype",
+ "Abnormality of the immune system",
+ "circulatory organ",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
+ "thoracic cavity blood vessel phenotype",
+ "great vessel of heart",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
+ "longitudinal arch of pes",
+ "flat longitudinal arch of pes",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
+ "fused pedal digit and anatomical entity",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
+ "Decreased multicellular organism mass",
+ "anatomical entity mass phenotype",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
+ "Growth abnormality",
+ "organ subunit",
+ "forebrain",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
"Abnormality of the ocular adnexa",
- "eyelid phenotype",
- "eye phenotype",
- "system process",
- "simple eye",
- "eyelid",
- "homeostatic process phenotype",
- "palpebral fissure",
- "decreased size of the orifice",
- "orifice phenotype",
- "multi organ part structure",
- "decreased size of the anatomical conduit",
- "visual system phenotype",
- "size of palpebral fissure phenotype",
- "Abnormality of the orbital region",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "Abnormal erythroid lineage cell morphology",
- "Irregular hyperpigmentation",
- "eyelid morphology phenotype",
- "integumental system",
- "multicellular organismal process",
- "increased biological_process in skin of body",
- "Localized skin lesion",
- "ear phenotype",
+ "tetrapod frontal bone morphology phenotype",
+ "limb bone",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
"increased pigmentation",
- "Cafe-au-lait spot",
- "increased biological_process",
- "pigmentation",
- "Hypermelanotic macule",
- "skin of body phenotype",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "increased size of the sense organ",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
+ "dermatocranium",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
+ "cranium",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
+ "anus",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
"olfactory organ phenotype",
- "sense organ phenotype",
- "anatomical point phenotype",
- "shape kidney",
- "increased size of the nose",
- "sense organ",
- "entire sense organ system",
- "immaterial entity",
- "increased size of the multicellular anatomical structure",
- "programmed DNA elimination by chromosome breakage",
- "Macule",
- "anatomical point",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
"increased size of the material anatomical entity",
- "pigmentation phenotype",
+ "Abnormal brain morphology",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
+ "brain morphology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
"increased size of the ectoderm-derived structure",
- "Abnormal external nose morphology",
- "increased volume of nose",
- "olfactory organ",
- "Bulbous nose",
- "sensory system",
- "increased size of the anatomical entity",
- "Abnormal nasal tip morphology",
- "external soft tissue zone phenotype",
- "increased size of the anatomical structure",
- "ocular adnexa",
- "Abnormality of the nose",
- "increased size of the organism subdivision",
- "external nose",
- "nose",
- "external soft tissue zone",
- "Abnormal nasal morphology",
- "absent anatomical structure in the limb",
- "absent material anatomical entity in the limb",
- "Absent thumb",
- "absent digit",
- "negative regulation of biosynthetic process",
- "absent autopodial extension",
- "number of anatomical enitites of type organism subdivision phenotype",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "external nose phenotype",
- "absent manual digit",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "absent anatomical entity in the limb",
- "absent multicellular anatomical structure",
- "aplastic manual digit 1",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "absent material anatomical entity",
- "trunk phenotype",
- "renal system morphology phenotype",
- "trunk region element",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "paired limb/fin",
- "material anatomical entity phenotype",
- "cell",
- "limb bone phenotype",
- "skeleton phenotype",
- "Abnormality of the head",
- "Abnormality of chromosome stability",
- "facial bone phenotype",
- "decreased number of anatomical entity",
- "lateral structure phenotype",
- "skeleton of limb phenotype",
- "arm",
- "aplasia or hypoplasia of skeleton",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "tube",
- "autopodial extension phenotype",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "Short stature",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "skeleton",
- "organ phenotype",
- "mandible phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "decreased size of the bone element",
- "endochondral bone",
- "mandible hypoplasia",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
+ "increased length of the skin of head",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
+ "epithelial tube",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
+ "tracheobronchial tree",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
"Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
+ "intromittent organ",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
+ "regional part of nervous system",
"primary subdivision of skull phenotype",
- "nose morphology phenotype",
- "decreased length of endochondral bone",
- "neural crest-derived structure",
- "jaw region",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "digestive system morphology phenotype",
- "organ part phenotype",
- "digestive system element phenotype",
- "increased volume of anatomical entity",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
+ "femur",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Neoplasm by anatomical site",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
+ "deviation of manual digit 5 towards the middle",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
+ "decreased size of the ectoderm-derived structure",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
+ "decreased length of long bone",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "pes bone phenotype",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
+ "ulna hypoplasia",
+ "abdomen element physiology phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
+ "decreased size of the bone element",
+ "subdivision of skeleton",
"decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "root",
- "nose phenotype",
- "external genitalia phenotype",
- "increased size of the organ",
- "decreased length of bone of appendage girdle complex",
- "Cryptorchidism",
- "structure with developmental contribution from neural crest",
- "Abnormal forebrain morphology",
- "membrane bone phenotype",
- "Abnormal jaw morphology",
- "Abnormality of the palpebral fissures",
- "Abnormal digestive system morphology",
- "Abnormal ear physiology",
- "skeleton of pectoral complex",
- "nose tip morphology phenotype",
- "Abnormal skull morphology",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "limb morphology phenotype",
- "aplastic anatomical entity",
- "Abnormal oral morphology",
- "genitourinary system",
- "negative regulation of cellular process",
- "jaw skeleton morphology phenotype",
- "body proper",
- "orifice",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "organism subdivision phenotype",
- "Eumetazoa",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
"Abnormality of thrombocytes",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "forelimb morphology phenotype",
- "subdivision of tube",
- "face",
- "dermal skeleton phenotype",
- "programmed DNA elimination by chromosome breakage phenotype",
- "dermal bone",
- "skeleton of lower jaw",
- "facial bone",
- "bone of lower jaw phenotype",
- "multicellular organism",
- "eukaryotic cell",
- "anatomical collection",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "head bone phenotype",
- "radius endochondral element",
- "decreased size of the multicellular anatomical structure",
- "subdivision of digestive tract phenotype",
- "craniofacial/craniocervical phenotype",
- "bone of craniocervical region",
- "intramembranous bone",
- "Abnormality of multiple cell lineages in the bone marrow",
- "regulation of gene expression",
- "subdivision of digestive tract",
- "dermal skeleton",
- "cell phenotype",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
"axial skeleton plus cranial skeleton",
- "localised reproductive organ",
- "bone element hypoplasia in face",
- "autopod region morphology phenotype",
- "Abnormality of the skin",
- "mouth morphology phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "long bone morphology phenotype",
- "Pancytopenia",
- "hematopoietic system phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "trunk",
- "Aplasia/Hypoplasia of the radius",
- "limb endochondral element",
- "specifically dependent continuant",
- "decreased size of the bone of pectoral complex",
- "Abnormality of the kidney",
- "bone marrow cell",
- "facial skeleton morphology phenotype",
- "postcranial axial skeletal system",
- "head bone morphology phenotype",
- "external nose morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "skeleton of lower jaw phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "trunk region element phenotype",
- "cranial skeletal system",
- "Abnormal platelet morphology",
- "subdivision of skeletal system phenotype",
- "skeletal element",
- "Finger aplasia",
- "Abnormal facial skeleton morphology",
- "decreased size of the arm bone",
- "subdivision of head",
- "endochondral element phenotype",
- "Abnormality of the digestive system",
- "decreased height of the anatomical entity",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "absent organism subdivision in the multicellular organism",
- "forelimb zeugopod bone phenotype",
- "forelimb bone",
- "nose tip phenotype",
- "multicellular anatomical structure",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "localised reproductive structure",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "Clinodactyly of the 5th finger",
"endochondral element",
- "bone cell",
- "Abnormal bone marrow cell morphology",
- "Abnormal skeletal morphology",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "bone of jaw",
- "erythrocyte",
- "Abnormality of blood and blood-forming tissues",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
"lower jaw region",
- "anatomical structure",
- "Aplasia/Hypoplasia of the mandible",
- "anucleate cell",
- "dentary",
- "Abnormality of the face",
- "continuant",
- "decreased size of the manual digit",
- "organ",
- "Thrombocytopenia",
- "decreased length of endochondral element",
- "programmed DNA elimination",
- "system",
- "Abnormality of the genitourinary system",
- "Short finger",
- "Abnormal cell morphology",
- "anatomical entity phenotype",
- "decreased length of palpebral fissure",
- "jaw skeleton",
- "central nervous system morphology phenotype",
- "organism subdivision",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Abnormality of the mouth",
- "axial skeletal system",
- "facial skeleton phenotype",
- "Chromosome breakage",
- "Abnormal platelet count",
- "Abnormality of limb bone",
- "Aplasia/hypoplasia involving forearm bones",
- "appendage girdle complex",
- "Abnormality of the skeletal system",
- "anatomical conduit phenotype",
- "multicellular organism height phenotype",
- "excretory system",
- "paired limb/fin segment",
- "ear",
- "Abnormal erythrocyte morphology",
- "absent anatomical structure",
- "dermatocranium",
- "decreased length of digit 1",
- "postcranial axial skeleton",
- "organ system subdivision",
- "Abnormal testis morphology",
- "hematopoietic cell",
- "hemolymphoid system",
- "multicellular organismal process phenotype",
- "erythroid lineage cell",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
"musculature of body phenotype",
- "Anemia",
- "skeleton of limb",
- "digestive tract",
- "decreased length of orifice",
- "Abnormality of head or neck",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
+ "multicellular organism",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
+ "abdomen element",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
+ "All",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
+ "manus phenotype",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
"external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "homeostatic process",
+ "zone of skin morphology phenotype",
+ "autopod bone",
+ "musculoskeletal system phenotype",
+ "biological_process phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "eyelid",
+ "sloped anatomical entity",
"decreased size of the forelimb bone",
- "main body axis",
- "mandible morphology phenotype",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
+ "Abnormality of skin pigmentation",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
+ "multi-limb segment region phenotype",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
+ "skin of body",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
+ "skin of body phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
"integument phenotype",
- "musculature",
- "dermal skeletal element phenotype",
- "decreased size of the anatomical structure",
- "bone of lower jaw",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "developing anatomical structure",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
+ "arterial system",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
+ "abdominal segment element phenotype",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
+ "Syndactyly",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
+ "digit 5 plus metapodial segment",
+ "multicellular organism phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
+ "subdivision of trunk",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
"anatomical system",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "Abnormal myeloid cell morphology",
- "sensory perception of mechanical stimulus",
- "Short forearm",
- "growth phenotype",
- "testis phenotype",
- "bone marrow",
- "nucleate cell",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal cellular immune system morphology",
- "forelimb zeugopod bone hypoplasia",
- "tissue",
- "disconnected anatomical group",
- "Abnormal male external genitalia morphology",
- "Eukaryota",
- "anatomical system phenotype",
- "decreased sensory perception of mechanical stimulus",
- "bone of jaw phenotype",
- "taxon specific phenotype",
- "forelimb phenotype",
- "anatomical collection phenotype",
- "leukocyte morphology phenotype",
- "Abnormal immune system morphology",
- "Abnormal limb bone morphology",
- "organ part",
- "endochondral bone phenotype",
- "lateral structure",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "decreased number of material anatomical entity",
- "skin of body",
- "number of platelet phenotype",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
+ "Abnormality of the upper limb",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
+ "shape digit",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
+ "Lower extremity joint dislocation",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
"localised testis",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
+ "sensory system phenotype",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
"leukocyte",
- "material entity",
- "immune system",
- "decreased qualitatively sensory perception",
- "musculoskeletal system",
+ "Finger syndactyly",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
+ "Abnormality of the testis size",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
+ "Abnormality of the skin",
+ "nervous system",
"secretory cell",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "facial skeleton",
- "serotonin secreting cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
+ "abdomen",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
+ "forelimb endochondral element",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "localised material anatomical entity",
+ "decreased length of endochondral bone",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
+ "tube closure",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
+ "Abnormal forearm morphology",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
+ "pectoral appendage phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
"arm bone phenotype",
- "camera-type eye morphology phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
+ "decreased length of anatomical structure",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
+ "Abnormality of movement",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
+ "renal system",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
+ "deviation of manual digit 5",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
+ "incomplete closing of the anatomical structure",
"musculature phenotype",
- "Short long bone",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "decreased qualitatively biological_process",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "oxygen accumulating cell",
- "bone of craniocervical region phenotype",
- "hematopoietic system",
- "mandible",
- "Morphological central nervous system abnormality",
- "musculoskeletal system phenotype",
- "zeugopod",
- "simple eye phenotype",
- "blood cell phenotype",
- "decreased number of hematopoietic cell",
- "anatomical entity hypoplasia in face",
- "camera-type eye phenotype",
- "limb bone",
- "number of cell phenotype",
- "zeugopod phenotype",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "mouth",
- "Abnormal cellular phenotype",
- "subdivision of tube phenotype",
- "All",
- "appendicular skeleton",
- "male organism phenotype",
- "negative regulation of cellular process phenotype",
- "manual digit 1 or 5",
- "organ system subdivision phenotype",
- "decreased size of the bone of free limb or fin",
- "Abnormality of the male genitalia",
- "agenesis of anatomical entity",
- "number of hematopoietic cell phenotype",
- "Abnormal mandible morphology",
- "multi-limb segment region phenotype",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "sense organ physiology phenotype",
- "primary subdivision of skull",
- "tube phenotype",
- "decreased number of cell",
- "musculature of body",
- "skeletal system",
- "sensory perception of mechanical stimulus phenotype",
- "digit 1",
- "anatomical entity morphology in the pectoral complex phenotype",
- "reproductive organ",
+ "forelimb zeugopod bone",
+ "opening of the anatomical entity",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
+ "renal system phenotype",
"multicellular anatomical structure phenotype",
- "absent multicellular anatomical structure in the limb",
- "facial bone hypoplasia",
- "decreased size of the long bone",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "Abnormality of the integument",
- "phenotype",
- "skeletal element phenotype",
- "decreased length of bone element",
- "craniocervical region phenotype",
- "aplasia or hypoplasia of mandible",
- "digit 1 or 5 phenotype",
- "dermatocranium phenotype",
- "localised multicellular anatomical structure",
- "platelet",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
"primary subdivision of cranial skeletal system",
- "regulation of biological process",
- "manual digit",
- "decreased length of arm bone",
- "long bone",
- "vestibulo-auditory system phenotype",
- "upper limb segment",
- "limb segment phenotype",
- "limb segment",
- "decreased height of the multicellular organism",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
+ "intromittent organ phenotype",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
+ "compound organ phenotype",
+ "anatomical structure mass phenotype",
+ "appendicular skeleton",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
"Phenotypic abnormality",
- "forelimb long bone",
- "decreased length of mesoderm-derived structure",
- "regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "decreased length of forelimb zeugopod bone",
- "Short palpebral fissure",
- "forelimb long bone phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "aplasia or hypoplasia of telencephalon",
- "aplasia or hypoplasia of radius bone",
- "digit 1 or 5",
- "forelimb",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "forelimb zeugopod skeleton",
- "Squamous cell carcinoma",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "decreased length of anatomical entity",
- "decreased size of the skeletal element",
- "decreased length of multicellular anatomical structure",
- "neural crest-derived structure phenotype",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "immune system morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "decreased length of organ",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "bone of pectoral complex morphology phenotype",
- "mouth phenotype",
- "abdomen",
- "bone of free limb or fin",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "pectoral appendage skeleton",
- "forelimb endochondral element",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "pectoral complex",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
+ "parasympathetic nervous system",
+ "Abnormality of the hand",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
+ "Abnormal shape of the frontal region",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
+ "tunica fibrosa of eyeball",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
+ "central nervous system gray matter layer phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
+ "Sloping forehead",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
"anatomical entity physiology phenotype",
- "multi-limb segment region",
- "negative regulation of cellular metabolic process",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "nervous system process phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "radius bone morphology phenotype",
- "upper limb segment phenotype",
- "Neoplasm of the skin",
- "biological_process phenotype",
- "Hearing impairment",
- "anatomical entity morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
+ "tube phenotype",
"forelimb skeleton",
- "intramembranous bone phenotype",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "nervous system phenotype",
- "limb phenotype",
- "absent multicellular anatomical structure in the forelimb",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
+ "hemopoiesis",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
+ "abdominal segment element",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
"limb",
- "Abnormal eyelid morphology",
- "manual digit phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "decreased length of bone of pectoral complex",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "Abnormality of body height",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Aplasia/Hypoplasia involving bones of the skull",
- "Abnormal finger morphology",
- "paired limb/fin skeleton phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "vestibulo-auditory system",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "size of anatomical entity phenotype",
- "quality",
- "Upper limb undergrowth",
- "absent anatomical entity",
- "acropodium region",
- "zeugopodial skeleton",
- "regulation of cellular process",
- "Abnormal forearm morphology",
- "decreased size of the endochondral bone",
- "decreased size of the mesoderm-derived structure",
- "reproductive structure phenotype",
- "long bone phenotype",
- "decreased length of skeletal element",
- "testis",
- "male reproductive system",
- "anatomical entity length phenotype",
- "decreased size of the limb bone",
- "non-connected functional system",
- "gonad phenotype",
- "motile cell",
- "decreased size of the digit",
- "forelimb skeleton phenotype",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
+ "trunk phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
+ "Decreased fertility in males",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
+ "anatomical conduit phenotype",
+ "Abnormal foot morphology",
"digestive system element",
- "pectoral appendage phenotype",
- "external genitalia",
- "limb bone morphology phenotype",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "Limb undergrowth",
- "decreased size of the forelimb endochondral element",
- "arm bone",
- "occurrent",
- "digestive system phenotype",
- "decreased length of forelimb bone",
- "appendicular skeleton phenotype",
- "skeletal system phenotype",
- "Growth abnormality",
- "decreased size of the palpebral fissure",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
- "decreased length of forelimb endochondral element",
- "decreased length of anatomical structure",
- "radius bone hypoplasia",
- "decreased length of bone of free limb or fin",
- "renal system",
- "decreased nervous system process",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "dermal bone phenotype",
- "face phenotype",
- "localised male reproductive organ",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "bone of pectoral complex phenotype",
- "decreased length of limb bone",
- "arm phenotype",
- "male reproductive system phenotype",
- "kidney phenotype",
- "reproductive structure",
- "anatomical conduit",
- "male reproductive organ phenotype",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
"craniocervical region",
- "decreased length of organism subdivision",
- "bone element",
- "pectoral appendage",
- "gonad",
- "anatomical entity morphology in the manus phenotype",
- "male reproductive organ",
"Abnormality of the genital system",
- "reproductive organ phenotype",
- "kidney",
- "genitourinary system phenotype",
- "pectoral appendage skeleton phenotype",
- "Abnormal external genitalia",
- "Abnormal digit morphology",
- "Abnormal reproductive system morphology",
- "manual digit plus metapodial segment",
- "external male genitalia",
- "localised anatomical structure",
- "nose tip",
- "localised gonad",
- "head phenotype",
- "anatomical entity",
- "localised organ",
- "location of anatomical entity phenotype",
- "renal system phenotype",
- "localised anatomical entity",
- "localised material anatomical entity",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
"reproductive system",
- "face morphology phenotype",
- "dermal skeletal element",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "subdivision of organism along main body axis phenotype",
+ "mesoderm-derived structure phenotype",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
+ "growth",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
"aplasia or hypoplasia of skull",
- "male organism",
- "membrane bone",
- "decreased length of autopodial extension",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "head",
- "digit",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "digit 1 phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "myeloid cell",
- "autopod region",
- "decreased qualitatively nervous system process",
- "segment of autopod",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "Hypoplastic facial bones",
- "manus",
- "integument",
- "skeleton of manus",
- "reproductive system phenotype",
- "autopodial extension",
- "Short digit",
- "Short thumb",
- "skull",
- "Abnormality of the hand",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
+ "organ",
+ "pedal digit bone",
+ "autopod endochondral element",
+ "trunk region element",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
+ "mesoderm-derived structure",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
+ "skeletal joint dislocation",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
+ "nervous system cell part layer",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal enteric nervous system morphology",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
+ "Abnormality of the forehead",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
+ "homeostatic process phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
+ "neural tube",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
+ "embryo phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
+ "decreased size of the anatomical structure",
+ "Abnormal nasal morphology",
+ "Abnormality of the cardiovascular system",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
+ "alimentary part of gastrointestinal system",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
"Abnormality of limbs",
- "aplasia or hypoplasia of manual digit 1",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "head bone",
- "Ectopic kidney",
- "decreased length of anatomical conduit",
- "Growth delay",
- "biological_process",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "growth",
- "regulation of gene expression phenotype",
- "increased size of the olfactory organ",
- "delayed biological_process",
- "delayed growth",
- "abdominal segment of trunk",
- "radius bone phenotype",
- "decreased size of the organ",
- "abdominal segment element",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
+ "pes bone",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
"Abnormality of the upper urinary tract",
- "biogenic amine secreting cell",
- "cavitated compound organ phenotype",
- "abdomen element phenotype",
- "dentary phenotype",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
- "regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "Micrognathia",
- "renal/urinary system phenotype",
- "localised abdomen element",
- "abdominal segment element phenotype"
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
+ "Abnormal skull morphology",
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype"
],
- "has_phenotype_count": 20,
+ "has_phenotype_count": 106,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi anemia complementation group O",
"full_name": null,
"deprecated": null,
- "description": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"xref": [
- "DOID:0080757",
- "MEDGEN:1635492",
- "OMIM:134600",
- "UMLS:C4551503"
+ "DOID:0111096",
+ "GARD:15656",
+ "MEDGEN:462003",
+ "OMIM:613390",
+ "UMLS:C3150653"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome"
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001942",
- "HP:0002148",
- "HP:0000124",
- "HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
- "HP:0002748",
- "HP:0034359",
- "HP:0003076",
- "HP:0003155",
- "HP:0000083",
- "HP:0003355",
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0009778",
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
"HP:0004322",
- "HP:0003126",
- "HP:0001324"
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023"
],
- "has_phenotype_label": [
- "Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
- "Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
- "Rickets",
- "Impaired renal tubular reabsorption of phosphate",
- "Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
- "Renal insufficiency",
- "Aminoaciduria",
+ "has_phenotype_label": [
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Short thumb",
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
"Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness"
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia"
],
"has_phenotype_closure": [
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
+ "UBERON:0000481",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0002548",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
"UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
"UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
"GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
- "CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:33575",
- "UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
+ "UPHENO:0049874",
"HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "GO:0008150",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
+ "GO:0005623",
+ "UPHENO:0050040",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UPHENO:0049757",
+ "GO:0010629",
+ "UPHENO:0002411",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
+ "UBERON:0010314",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
"UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
+ "UBERON:0004121",
+ "UPHENO:0053580",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
+ "UBERON:0001442",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
+ "UPHENO:0003415",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
+ "UPHENO:0086635",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0002813",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
"UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "UPHENO:0068838",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
"UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
- "HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
+ "GO:0009890",
+ "UPHENO:0046741",
+ "RO:0002577",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
"UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0081423",
+ "UBERON:0010538",
+ "UPHENO:0080079",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
+ "HP:0040012",
+ "UPHENO:0046397",
+ "UPHENO:0001001",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
+ "UPHENO:0046445",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
+ "UPHENO:0000541",
+ "UPHENO:0084834",
+ "UPHENO:0046426",
+ "HP:0011314",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UBERON:0003103",
+ "UPHENO:0069030",
+ "HP:0011017",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
+ "UPHENO:0049620",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
"UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0050784",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
"HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0033127",
+ "HP:0002818",
+ "UPHENO:0074335",
+ "BFO:0000004",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
"GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
- "HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
- "UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
"UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
"UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0049868",
+ "UPHENO:0012312",
+ "UBERON:0013702",
+ "UPHENO:0005214",
+ "UBERON:0034923",
"UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
+ "UPHENO:0002926",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
"UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
+ "UPHENO:0001303",
"UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
- "UPHENO:0048707",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
"UBERON:0000489",
- "UPHENO:0068110",
- "HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
- "CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UBERON:0001062",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
+ "UPHENO:0002526",
"UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964"
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
+ "HP:0040064",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
+ "UPHENO:0002963"
],
"has_phenotype_closure_label": [
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
"muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
- "protein polypeptide chain",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
"Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
+ "Abnormality of body height",
"size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
"decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "urine amino acid level phenotype",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "negative regulation of biological process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
+ "ectoderm-derived structure",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
+ "Abnormality of the hand",
+ "male reproductive organ phenotype",
+ "anatomical structure physiology phenotype",
+ "male reproductive organ",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
+ "anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
"Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
+ "Growth delay",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
"renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
- "multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
"abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "cavitated compound organ",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "viscus",
+ "paired limb/fin skeleton",
+ "limb phenotype",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
"abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
"lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "musculoskeletal system",
+ "long bone",
+ "skeleton",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
+ "organism subdivision phenotype",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "decreased length of digit 1 or 5",
+ "appendicular skeletal system",
+ "Abnormality of the musculature of the upper limbs",
+ "endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "Abnormal cellular phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
+ "decreased length of multicellular anatomical structure",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
"All",
- "Abnormal urine protein level",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
+ "growth",
"organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
+ "multicellular organism morphology phenotype",
+ "forelimb zeugopod morphology phenotype",
"material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
- "cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
- "abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
+ "homeostatic process phenotype",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
+ "Abnormality of the kidney",
"trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
- "musculoskeletal system",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
"material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
- "anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
+ "multicellular organism",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "disconnected anatomical group",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
"subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
"anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
"compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
+ "organ",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
"multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
"size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
- "growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
- "role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
- "musculature of body phenotype",
- "skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "renal system",
"Abnormal skeletal morphology",
- "ossification",
- "carbohydrate",
- "skeletal system"
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
+ "decreased height of the multicellular organism",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity"
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 15,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0013499",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group P",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.",
"xref": [
- "DOID:0111080",
- "GARD:16213",
- "MEDGEN:934619",
- "OMIM:617243",
- "UMLS:C4310652"
+ "DOID:0111092",
+ "GARD:15731",
+ "MEDGEN:854020",
+ "OMIM:613951",
+ "UMLS:C3469542"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia"
+ "FANCP",
+ "Fanconi Anemia, complementation group type P",
+ "Fanconi anaemia caused by mutation in SLX4",
+ "Fanconi anaemia caused by mutation in Slx4",
+ "Fanconi anaemia complementation group type P",
+ "Fanconi anemia caused by mutation in SLX4",
+ "Fanconi anemia caused by mutation in Slx4",
+ "Fanconi anemia complementation group type P",
+ "Fanconi anemia, complementation group P",
+ "SLX4 Fanconi anaemia",
+ "SLX4 Fanconi anemia",
+ "Slx4 Fanconi anaemia",
+ "Slx4 Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
- "HP:0001873",
- "HP:0005528",
- "HP:0006254",
- "HP:0003221",
+ "HP:0001876",
+ "HP:0000347",
+ "HP:0009778",
+ "HP:0001510",
+ "HP:0000414",
+ "HP:0000957",
"HP:0001903",
+ "HP:0012745",
+ "HP:0000085",
+ "HP:0003221",
"HP:0004322",
- "HP:0000252"
+ "HP:0000365",
+ "HP:0000252",
+ "HP:0002984",
+ "HP:0000028",
+ "HP:0000125",
+ "HP:0009777",
+ "HP:0000581",
+ "HP:0002860",
+ "HP:0001045"
],
"has_phenotype_label": [
- "Neutropenia",
- "Thrombocytopenia",
- "Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
+ "Pancytopenia",
+ "Micrognathia",
+ "Short thumb",
+ "Growth delay",
+ "Bulbous nose",
+ "Cafe-au-lait spot",
"Anemia",
+ "Short palpebral fissure",
+ "Horseshoe kidney",
+ "Chromosomal breakage induced by crosslinking agents",
"Short stature",
- "Microcephaly"
+ "Hearing impairment",
+ "Microcephaly",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
+ "Pelvic kidney",
+ "Absent thumb",
+ "Blepharophimosis",
+ "Squamous cell carcinoma",
+ "Vitiligo"
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
+ "UPHENO:3000003",
+ "HP:0012733",
+ "HP:0008069",
+ "HP:0002664",
+ "HP:0011793",
+ "HP:0000581",
+ "UPHENO:0011825",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "UPHENO:0068941",
+ "UPHENO:0009209",
+ "GO:0031049",
+ "UPHENO:0026010",
+ "UPHENO:0026181",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0009163",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "HP:0000414",
+ "UPHENO:0011531",
+ "UPHENO:0025507",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0008523",
+ "UPHENO:0069062",
+ "UPHENO:0026643",
+ "HP:0009777",
+ "UPHENO:0053588",
+ "UBERON:0001007",
+ "UPHENO:0053601",
+ "HP:0000125",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0053610",
+ "UPHENO:0053633",
+ "HP:0000086",
+ "UBERON:0003101",
+ "UPHENO:0053644",
+ "HP:0012243",
+ "UPHENO:0002868",
+ "UPHENO:0002523",
+ "UBERON:0000079",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "HP:0010461",
+ "UPHENO:0002659",
+ "HP:0000078",
+ "UPHENO:0003055",
+ "UPHENO:0011572",
+ "UPHENO:0053571",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UPHENO:0008548",
+ "UPHENO:0053563",
+ "UPHENO:0053572",
+ "UPHENO:0002832",
+ "HP:0003026",
+ "UPHENO:0005016",
+ "UBERON:0004176",
+ "UBERON:0000991",
+ "HP:0006503",
"UPHENO:0086589",
- "UPHENO:0004704",
- "HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
+ "UPHENO:0046460",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "HP:0002973",
+ "UPHENO:0046465",
+ "UBERON:0002199",
+ "HP:0009824",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0068838",
+ "UPHENO:0081314",
+ "UBERON:0002386",
+ "UPHENO:0076718",
+ "UBERON:0000479",
+ "HP:0000119",
"HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
- "HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
- "UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
+ "UPHENO:0004173",
+ "HP:0002818",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UBERON:0010703",
+ "UPHENO:0046405",
+ "HP:0011314",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "UPHENO:0069030",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "UPHENO:0068839",
+ "UPHENO:0026146",
"UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
- "UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
- "UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
- "UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
- "UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
- "HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
- "BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
- "UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
+ "UPHENO:0069046",
+ "UPHENO:0004595",
+ "UPHENO:0069064",
+ "HP:0009380",
+ "UPHENO:0002715",
+ "HP:0007364",
+ "UPHENO:0002866",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "HP:0100547",
"UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
+ "UBERON:0000481",
+ "HP:0000707",
+ "UPHENO:0004521",
+ "UPHENO:0081788",
+ "UPHENO:0075220",
"UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
- "UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
- "UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
- "CL:0000763",
- "UPHENO:0081547",
- "HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
- "CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
+ "HP:0000811",
+ "HP:0012639",
+ "UBERON:0000955",
+ "UBERON:0001017",
+ "HP:0000240",
+ "UBERON:0012141",
+ "UPHENO:0046403",
+ "UBERON:0001890",
+ "UPHENO:0080187",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
"NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
- "UPHENO:0080010",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "GO:0050789",
+ "UPHENO:0053632",
+ "UPHENO:0076754",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0052161",
+ "GO:0050954",
+ "UPHENO:0046479",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "UBERON:0001463",
+ "UPHENO:0049620",
+ "UPHENO:0052178",
+ "UBERON:0003135",
+ "UPHENO:0082875",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UPHENO:0046753",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005596",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0005513",
+ "UPHENO:0075159",
+ "UPHENO:0080351",
+ "UPHENO:0081424",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UBERON:0002417",
+ "HP:0025354",
"HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
+ "HP:0200007",
+ "HP:0002860",
+ "UPHENO:0002352",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0009020",
+ "GO:0009987",
+ "UPHENO:0081313",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "HP:0001939",
+ "UBERON:0003607",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UPHENO:0002812",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "UBERON:0008907",
+ "UPHENO:0080114",
+ "HP:0000957",
+ "GO:0048523",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UBERON:0005177",
+ "UBERON:0001008",
+ "HP:0002060",
+ "HP:0100542",
+ "UBERON:0000489",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "UBERON:0003466",
+ "UPHENO:0003093",
+ "UPHENO:0003088",
+ "UBERON:0000383",
+ "UPHENO:0087427",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UBERON:0010741",
+ "GO:0065007",
+ "UPHENO:0076800",
+ "HP:0010935",
"UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
- "UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
+ "HP:0031704",
+ "UPHENO:0075902",
+ "HP:0012210",
+ "UPHENO:0002642",
+ "UPHENO:0003065",
+ "UPHENO:0041821",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "UBERON:0035639",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UPHENO:0046487",
+ "UPHENO:0086635",
+ "UPHENO:0046755",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003410",
+ "UPHENO:0076941",
+ "UPHENO:0049699",
+ "UPHENO:0075198",
+ "UBERON:0005156",
+ "UBERON:0000970",
+ "UPHENO:0069266",
+ "UBERON:0015203",
+ "UBERON:0034921",
+ "UPHENO:0069562",
+ "UPHENO:0001001",
+ "HP:0000492",
+ "HP:0012745",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "UBERON:0006983",
+ "UBERON:0004088",
+ "UPHENO:0050008",
+ "UBERON:0001711",
+ "UPHENO:0026506",
+ "UBERON:0004710",
+ "HP:0002984",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0005433",
+ "UBERON:0001819",
+ "UBERON:0000019",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UPHENO:0003085",
+ "UPHENO:0075878",
+ "UPHENO:0052231",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "UPHENO:0002643",
+ "UPHENO:0009382",
+ "GO:0003008",
+ "UPHENO:0080010",
+ "HP:0001034",
"UPHENO:0005092",
+ "UPHENO:0002635",
+ "UPHENO:0076739",
+ "UPHENO:0053643",
+ "UPHENO:0003811",
+ "UPHENO:0074575",
+ "CL:0000232",
+ "GO:0043473",
+ "UPHENO:0004064",
+ "UPHENO:0002751",
+ "UPHENO:0069254",
+ "HP:0011355",
+ "CL:0000081",
+ "UBERON:0002416",
+ "HP:0000953",
+ "UPHENO:0041226",
+ "UPHENO:0046396",
+ "UPHENO:0074584",
+ "UPHENO:0002632",
+ "UPHENO:0002976",
+ "HP:0002813",
"UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
+ "UPHENO:0080377",
+ "UPHENO:0002940",
+ "UBERON:0001032",
+ "UPHENO:0002559",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UPHENO:0001360",
+ "UPHENO:0050065",
+ "HP:0001167",
+ "BFO:0000141",
+ "UBERON:0000466",
+ "HP:0000002",
+ "UPHENO:0002907",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "UPHENO:0087430",
+ "HP:0000436",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UPHENO:0002945",
+ "UBERON:0002268",
+ "UPHENO:0084727",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0001303",
+ "UBERON:0004768",
+ "HP:0000118",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "UPHENO:0088168",
+ "UBERON:0012128",
+ "UPHENO:0002903",
+ "UPHENO:0001025",
+ "HP:0010938",
+ "UPHENO:0005106",
+ "UPHENO:0001912",
+ "UPHENO:0001135",
+ "UPHENO:0081204",
+ "UBERON:0034929",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0049587",
+ "UPHENO:0003001",
+ "UPHENO:0002597",
+ "UPHENO:0002727",
+ "UPHENO:0050620",
+ "UPHENO:0046426",
+ "UPHENO:0002844",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UBERON:0002405",
+ "UPHENO:0002722",
+ "HP:0001507",
+ "UPHENO:0046455",
+ "UPHENO:0052165",
+ "UPHENO:0069292",
+ "CL:0000151",
+ "UPHENO:0084448",
+ "UPHENO:0076803",
+ "UPHENO:0046594",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0080325",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0001279",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "UBERON:0015061",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0069684",
+ "UBERON:0002398",
+ "HP:0000951",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "UBERON:0000990",
+ "UPHENO:0081566",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0002389",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UPHENO:0002837",
+ "UBERON:0004053",
"UPHENO:0050007",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
- "HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
- "GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0046392",
+ "UPHENO:0002651",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0002736",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0003095",
"UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
- "GO:0042592",
- "GO:0008152",
- "CHEBI:51143",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
- "HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
- "GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
+ "UPHENO:0002782",
+ "HP:0040068",
+ "UBERON:0000020",
+ "UBERON:0002097",
+ "HP:0040064",
+ "UPHENO:0002005",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0012354",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0002962",
+ "UBERON:0002513",
"UPHENO:0078606",
- "GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
- "UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
- "UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
- "UPHENO:0050778",
- "UPHENO:0086172",
- "GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "HP:0000364",
+ "RO:0002577",
+ "UBERON:0010740",
+ "GO:0009890",
+ "UPHENO:0046741",
+ "UPHENO:0046445",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UPHENO:0081423",
+ "UBERON:0010538",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UBERON:5006048",
+ "UBERON:0002544",
+ "UPHENO:0069125",
+ "CL:0000000",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0002870",
+ "UBERON:0010707",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "UBERON:0001423",
+ "UBERON:0007914",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UBERON:0007272",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0068914",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "UBERON:0007811",
+ "HP:0045060",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UBERON:0010758",
+ "UPHENO:0075997",
+ "HP:0000315",
+ "UPHENO:0002944",
+ "HP:0000366",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0011297",
+ "UBERON:0034923",
+ "UBERON:0004742",
+ "UPHENO:0002733",
+ "HP:0008050",
+ "UPHENO:0046397",
+ "UBERON:0015212",
+ "HP:0006496",
+ "HP:0005927",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "UBERON:0003606",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UPHENO:0046505",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UBERON:5002389",
+ "UPHENO:0012440",
+ "UPHENO:0002586",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0046483",
"UBERON:0000153",
- "UPHENO:0002536",
- "GO:0009890",
+ "UPHENO:0069163",
+ "CL:0001035",
+ "UBERON:0000075",
+ "HP:0001000",
+ "CL:0000763",
+ "UPHENO:0068921",
+ "UBERON:0000025",
+ "UPHENO:0004909",
+ "UPHENO:0002600",
+ "UPHENO:0002761",
+ "UPHENO:0088186",
+ "UBERON:0013765",
+ "UPHENO:0003056",
+ "UPHENO:0080087",
+ "UPHENO:0002942",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "UPHENO:0086595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UBERON:0012139",
+ "UBERON:0003462",
+ "HP:0000152",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "HP:0040070",
+ "UPHENO:0003025",
+ "UPHENO:0005518",
+ "UBERON:0001444",
+ "UPHENO:0069194",
+ "UBERON:0002104",
+ "UBERON:0004288",
+ "UBERON:0001440",
+ "UPHENO:0053612",
+ "UPHENO:0002963",
+ "HP:0000028",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UPHENO:0002746",
+ "UPHENO:0011498",
+ "UPHENO:0076761",
+ "HP:0005922",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0002553",
+ "UBERON:0011676",
+ "UPHENO:0002554",
+ "UPHENO:0069328",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
"HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
- "HP:0040012",
- "UPHENO:0049620",
- "UPHENO:0075804",
- "CL:0000232",
- "GO:0040007",
- "GO:0048519",
- "UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
- "UPHENO:0050784",
+ "UBERON:0000467",
+ "UPHENO:0002949",
+ "CL:0000738",
+ "UPHENO:0002910",
+ "UPHENO:0002928",
+ "UPHENO:0084715",
+ "UPHENO:0046411",
+ "UBERON:0011158",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0005881",
+ "UPHENO:0087518",
+ "UBERON:0019221",
+ "UPHENO:0002682",
+ "UBERON:0012475",
+ "UBERON:0011137",
+ "UPHENO:0002828",
+ "UBERON:0002495",
+ "UBERON:0001555",
+ "UBERON:0010000",
+ "UPHENO:0086956",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0001134",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "HP:0009115",
+ "UBERON:0013702",
+ "UPHENO:0087349",
+ "UPHENO:0025587",
+ "UPHENO:0001217",
+ "HP:0011821",
+ "UBERON:0000004",
+ "HP:0000924",
+ "UPHENO:0052160",
+ "HP:0000929",
+ "UBERON:0010314",
+ "HP:0006265",
+ "UBERON:0013701",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "UPHENO:0002838",
+ "CL:0000458",
+ "UPHENO:0000543",
+ "CL:0000255",
+ "UBERON:0000473",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UPHENO:0002772",
+ "UPHENO:0084457",
+ "UBERON:0002113",
+ "UBERON:0011156",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UPHENO:0002764",
"GO:0010629",
- "UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UBERON:0003113",
+ "UBERON:0002514",
+ "UPHENO:0002818",
+ "HP:0005105",
+ "UPHENO:0002694",
+ "UPHENO:0081091",
+ "UPHENO:0076703",
+ "CL:0000219",
+ "UPHENO:0068932",
+ "UPHENO:0004802",
+ "UPHENO:0087924",
+ "UBERON:0007842",
+ "HP:0002977",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "UPHENO:0005008",
"UPHENO:0088162",
+ "UPHENO:0002550",
+ "NCBITaxon:6072",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
"CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
+ "UPHENO:0012312",
+ "HP:0000347",
+ "HP:0011927",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UPHENO:0002593",
+ "HP:0006501",
+ "HP:0001045",
+ "UPHENO:0005097",
+ "HP:0009116",
"UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002"
+ "UBERON:0011595",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "HP:0000234",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0006058",
+ "HP:0000085",
+ "UPHENO:0054957",
+ "HP:0012145",
+ "BFO:0000003",
+ "UBERON:0010313",
+ "UBERON:0001434",
+ "UPHENO:0002548",
+ "UPHENO:0069119",
+ "HP:0030791",
+ "UPHENO:0083646",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UBERON:0010708",
+ "UBERON:0000061",
+ "CL:0000233",
+ "HP:0040012",
+ "UPHENO:0003432",
+ "UPHENO:0025509",
+ "GO:0050877",
+ "HP:0001903",
+ "UBERON:0000475",
+ "UBERON:0002371",
+ "UPHENO:0005517",
+ "UPHENO:0005104",
+ "UBERON:0011216",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0012360",
+ "UPHENO:0002531",
+ "HP:0009601",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002880",
+ "UBERON:0003457",
+ "UPHENO:0004625",
+ "UPHENO:0002926",
+ "UPHENO:0003069",
+ "UPHENO:0076727",
+ "UBERON:0008962",
+ "HP:0030669",
+ "UPHENO:0002668",
+ "UBERON:0001708",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "GO:0010605",
+ "CL:0002092",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "HP:0011121",
+ "UBERON:0010912",
+ "UPHENO:0086633",
+ "UPHENO:0002861",
+ "HP:0000001",
+ "HP:0001172",
+ "UBERON:0002390",
+ "CL:0000457",
+ "UPHENO:0002754",
+ "UPHENO:0075890",
+ "UBERON:0007827",
+ "UPHENO:0002909",
+ "UPHENO:0087950",
+ "HP:0000252",
+ "UBERON:0004456",
+ "UPHENO:0002595",
+ "HP:0040195",
+ "HP:0009815",
+ "UBERON:0000468",
+ "UBERON:0001684",
+ "BFO:0000004",
+ "HP:0009122",
+ "UBERON:0002193",
+ "UPHENO:0003004",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0025585",
+ "CL:0000225",
+ "UPHENO:0003227",
+ "UPHENO:0053566",
+ "BFO:0000002",
+ "UPHENO:0052159",
+ "UPHENO:0005214",
+ "UPHENO:0076692",
+ "UPHENO:0053647",
+ "HP:0009381",
+ "UPHENO:0002536",
+ "UPHENO:0050063",
+ "UBERON:0001062",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "UBERON:0004375",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0012308",
+ "UPHENO:0002648",
+ "UBERON:0000033",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0046471",
+ "UPHENO:0002988",
+ "UPHENO:0080352",
+ "HP:0005561",
+ "UPHENO:0005512",
+ "UBERON:0001474"
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
- "Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
+ "autopodial extension phenotype",
+ "Neoplasm by anatomical site",
+ "neoplasm phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent anatomical entity in the forelimb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "jaw region",
+ "Finger aplasia",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "absent multicellular anatomical structure",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "localised trunk region element",
+ "aplasia or hypoplasia of anatomical entity",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "localised abdomen element",
+ "reproductive organ",
+ "localised anatomical entity",
+ "localised male reproductive organ",
"Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
- "head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
+ "location of anatomical entity phenotype",
+ "reproductive system phenotype",
+ "localised testis",
+ "external genitalia phenotype",
+ "Abnormal reproductive system morphology",
+ "localised anatomical structure",
+ "Abnormal external genitalia",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "Abnormality of the male genitalia",
+ "aplasia or hypoplasia of radius bone",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "long bone morphology phenotype",
+ "jaw skeleton",
+ "decreased size of the endochondral element",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "zeugopod",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "limb long bone morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "male reproductive system",
+ "decreased size of the arm bone",
+ "anatomical conduit",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "decreased length of arm bone",
+ "regulation of metabolic process",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "Forearm undergrowth",
+ "decreased length of anatomical entity",
+ "radius bone hypoplasia",
+ "decreased length of long bone",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "forelimb zeugopod",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "decreased length of bone of pectoral complex",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "zeugopod phenotype",
+ "forelimb bone phenotype",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
+ "decreased size of the organ",
+ "radius bone",
+ "arm bone phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "absent anatomical structure",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
"telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
+ "Abnormality of the nervous system",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Pelvic kidney",
+ "upper urinary tract",
+ "male organism",
"multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
+ "Abnormal cerebral morphology",
+ "decreased length of forelimb bone",
+ "forebrain",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "Abnormality of skull size",
+ "Eumetazoa",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "brain",
+ "Abnormal upper limb bone morphology",
"regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
"central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
- "body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
+ "telencephalon morphology phenotype",
+ "localised multicellular anatomical structure",
+ "Abnormal cellular phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "regional part of nervous system phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "digit phenotype",
+ "system process phenotype",
+ "Growth abnormality",
+ "decreased qualitatively nervous system process",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Hearing abnormality",
+ "nervous system process",
+ "nervous system process phenotype",
+ "testis phenotype",
+ "multicellular organismal process phenotype",
+ "multicellular anatomical structure",
+ "sense organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "main body axis",
+ "sensory perception of sound",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "digit",
+ "increased size of the anatomical structure",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "size of skull phenotype",
+ "primary subdivision of skull",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "ear",
+ "decreased qualitatively system process",
+ "gonad phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "radius bone phenotype",
+ "primary subdivision of skull phenotype",
+ "regional part of nervous system",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "sensory perception of sound phenotype",
+ "ear phenotype",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "skeleton",
+ "Short stature",
+ "subdivision of skeletal system",
+ "Abnormality of body height",
+ "neural crest-derived structure",
+ "anatomical point phenotype",
+ "decreased height of the multicellular organism",
+ "localised lateral structure",
+ "absent material anatomical entity in the limb",
+ "multicellular organism height phenotype",
"decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
+ "decreased size of the multicellular organism",
"negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
+ "negative regulation of biological process phenotype",
+ "regulation of cellular process",
+ "decreased length of limb bone",
+ "negative regulation of biological process",
+ "anucleate cell",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "negative regulation of gene expression",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
+ "Abnormal testis morphology",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "localised reproductive structure",
+ "homeostatic process phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "increased biological_process",
+ "eyelid",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "negative regulation of cellular process",
"biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
"negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
- "regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
- "anucleate cell",
- "anatomical structure",
+ "decreased length of mesoderm-derived structure",
+ "trunk phenotype",
+ "dermal skeleton",
+ "limb long bone",
+ "decreased length of digit 1 or 5",
+ "Abnormality of the upper urinary tract",
+ "Microcephaly",
+ "biological_process",
+ "Abnormality of the kidney",
+ "increased pigmentation",
+ "sensory perception phenotype",
+ "abdominal segment of trunk",
+ "genitourinary system",
+ "3-D shape anatomical entity",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "male organism phenotype",
+ "Chromosome breakage",
+ "genitourinary system phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "subdivision of trunk",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "cavitated compound organ phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal renal morphology",
+ "renal system",
+ "renal system morphology phenotype",
+ "decreased length of manual digit",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "decreased system process",
+ "bone of jaw",
+ "abdominal segment element",
+ "compound organ phenotype",
+ "trunk region element phenotype",
+ "abdomen element phenotype",
+ "decreased length of ectoderm-derived structure",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
+ "orifice phenotype",
+ "central nervous system morphology phenotype",
+ "ocular adnexa phenotype",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "Abnormality of the orbital region",
+ "camera-type eye",
+ "eyelid phenotype",
+ "decreased sensory perception of sound",
+ "multi organ part structure phenotype",
+ "decreased length of orifice",
+ "Ectopic kidney",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "decreased length of palpebral fissure",
+ "forelimb skeleton phenotype",
+ "eye",
+ "decreased biological_process",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "immaterial anatomical entity",
+ "decreased size of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "growth",
+ "external nose phenotype",
+ "reproductive structure phenotype",
+ "skeletal element",
+ "Short palpebral fissure",
+ "size of palpebral fissure phenotype",
+ "Abnormal size of the palpebral fissures",
+ "localised compound organ",
+ "arm bone",
+ "Abnormal ocular adnexa morphology",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "decreased size of the orifice",
+ "Anemia",
+ "erythroid lineage cell morphology phenotype",
+ "absent autopodial extension",
+ "decreased length of digit 1",
+ "erythrocyte morphology phenotype",
+ "Localized skin lesion",
+ "Abnormal forearm morphology",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "Abnormal long bone morphology",
+ "increased biological_process in skin of body",
"Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
+ "Blepharophimosis",
+ "increased qualitatively biological_process",
+ "nervous system",
+ "Abnormality of the skin",
+ "localised cavitated compound organ",
+ "Cafe-au-lait spot",
+ "decreased size of the mesoderm-derived structure",
+ "Hypermelanotic macule",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "absent anatomical structure in the forelimb",
+ "pigmentation phenotype",
+ "biological_process rate phenotype",
+ "sensory system",
+ "decreased length of manual digit 1",
+ "orifice",
+ "Abnormality of the face",
+ "increased size of the sense organ",
+ "Abnormal erythrocyte morphology",
+ "external nose morphology phenotype",
+ "increased size of the multicellular anatomical structure",
+ "Bulbous nose",
+ "bone of craniocervical region",
+ "increased size of the olfactory organ",
+ "decreased size of the autopodial extension",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "increased size of the organ",
+ "increased volume of anatomical entity",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "anatomical point",
+ "head phenotype",
+ "absent material anatomical entity in the forelimb",
+ "cellular organisms",
+ "nose phenotype",
+ "increased size of the nose",
+ "Micrognathia",
+ "renal system phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "increased size of the organism subdivision",
+ "phenotypic effect",
+ "entire sense organ system",
+ "negative regulation of biosynthetic process",
+ "nose",
+ "decreased size of the limb bone",
+ "limb bone phenotype",
+ "olfactory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "Abnormal nasal tip morphology",
+ "external soft tissue zone",
+ "organ phenotype",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "pectoral appendage skeleton phenotype",
+ "manual digit phenotype",
+ "sense organ",
+ "arm",
+ "Abnormal limb bone morphology",
+ "decreased length of skeletal element",
"musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
- "anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "increased volume of nose",
+ "brain phenotype",
+ "biological_process phenotype",
+ "decreased size of the forelimb bone",
"process",
- "negative regulation of macromolecule metabolic process phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
+ "segment of manus",
+ "Vitiligo",
+ "Growth delay",
+ "Neoplasm",
+ "delayed biological_process",
+ "decreased size of the limb endochondral element",
+ "membrane bone phenotype",
+ "decreased length of anatomical conduit",
+ "negative regulation of gene expression phenotype",
+ "limb skeleton subdivision",
+ "telencephalon phenotype",
+ "digit 1 or 5",
+ "subdivision of organism along appendicular axis",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormal localization of kidney",
+ "Aplasia/hypoplasia of the extremities",
+ "oxygen accumulating cell",
+ "bone of appendage girdle complex phenotype",
+ "multi-tissue structure",
+ "tube phenotype",
+ "forelimb skeleton",
+ "segment of autopod",
+ "Abnormal nasal morphology",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "nose tip",
+ "Abnormal external nose morphology",
+ "manual digit plus metapodial segment",
+ "root",
+ "endochondral element",
+ "decreased size of the manual digit",
+ "manual digit morphology in the manus phenotype",
+ "limb morphology phenotype",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "Abnormality of the hand",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "Horseshoe kidney",
+ "Abnormality of skin pigmentation",
+ "decreased length of bone of free limb or fin",
+ "nose morphology phenotype",
+ "decreased qualitatively sensory perception",
+ "appendicular skeleton phenotype",
+ "autopodial skeleton",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "nose tip morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "decreased length of autopodial extension",
+ "skin of body",
+ "manus",
"All",
- "bodily fluid",
+ "skeleton of manus",
"Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
+ "pectoral appendage skeleton",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "Abnormality of the ocular adnexa",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
"occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
- "metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
- "Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
- "oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
+ "digit 1 phenotype",
+ "decreased length of multicellular anatomical structure",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "mesoderm-derived structure phenotype",
+ "bone of jaw phenotype",
+ "reproductive system",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "paired limb/fin skeleton phenotype",
+ "Abnormality of the nose",
+ "absent manual digit",
+ "facial bone phenotype",
+ "manual digitopodium region",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "organism subdivision phenotype",
+ "dermatocranium phenotype",
+ "appendage",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "Hyperpigmentation of the skin",
+ "manual digit 1 morphology phenotype",
+ "U-shaped anatomical entity",
+ "upper limb segment phenotype",
+ "shape anatomical entity",
+ "external soft tissue zone phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "external nose",
+ "appendage phenotype",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "Abnormal finger morphology",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "limb phenotype",
+ "Short finger",
+ "sensory perception",
+ "acropodium region",
+ "organ system subdivision phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
"regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
+ "pigmentation",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "skeleton of limb",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb phenotype",
+ "Abnormality of chromosome stability",
+ "Abnormality of the palpebral fissures",
+ "immaterial anatomical entity phenotype",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "Pancytopenia",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
"regulation of gene expression phenotype",
- "subdivision of skeletal system",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
+ "decreased length of manual digit 1 or 5",
"regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
+ "motile cell",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "ectoderm-derived structure phenotype",
+ "sensory system phenotype",
+ "decreased size of the long bone",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "external genitalia",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "mouth",
+ "reproductive structure",
+ "subdivision of head",
"size of anatomical entity phenotype",
- "Chromosome breakage",
+ "cranial skeletal system phenotype",
+ "decreased size of the anatomical conduit",
+ "facial bone hypoplasia",
+ "bone of pectoral complex morphology phenotype",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "Hypoplasia of the radius",
+ "localised gonad",
+ "bone of lower jaw",
+ "tissue",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "face",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "palpebral fissure phenotype",
+ "postcranial axial skeleton",
+ "limb bone",
+ "dermal bone phenotype",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "U-shaped kidney",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "neural crest-derived structure phenotype",
+ "dermal skeletal element",
+ "bone cell",
+ "anatomical entity length phenotype",
+ "trunk",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "craniofacial/craniocervical phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "decreased length of endochondral bone",
+ "decreased size of the anatomical structure",
+ "taxon specific phenotype",
+ "skull",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "dentary",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Neoplasm of the skin",
+ "skeletal system phenotype",
+ "subdivision of skeletal system phenotype",
+ "skeleton of lower jaw",
+ "paired limb/fin",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "growth phenotype",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "head",
+ "anatomical system",
+ "bone marrow",
+ "digitopodium region",
+ "localised material anatomical entity",
+ "mandible hypoplasia",
+ "Abnormality of the genitourinary system",
+ "anatomical conduit phenotype",
+ "facial skeleton",
+ "anatomical entity hypoplasia in face",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "forelimb",
+ "long bone",
+ "localised reproductive organ",
+ "head bone",
+ "skull morphology phenotype",
+ "entity",
+ "eye phenotype",
+ "postcranial axial skeletal system",
+ "Abnormal axial skeleton morphology",
+ "bone marrow cell",
+ "digestive tract",
+ "immaterial entity",
+ "Abnormal male external genitalia morphology",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "head morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "musculature",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "bone element hypoplasia in face",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "visual system",
+ "forelimb zeugopod morphology phenotype",
+ "anatomical entity height phenotype",
+ "subdivision of digestive tract phenotype",
+ "integumental system phenotype",
+ "ocular adnexa",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "limb long bone phenotype",
+ "lower jaw region",
+ "excretory system",
+ "regulation of macromolecule metabolic process phenotype",
+ "dermatocranium",
+ "digestive system element",
+ "organ part",
+ "Abnormal mandible morphology",
+ "platelet",
+ "dermal skeletal element phenotype",
+ "digestive system element phenotype",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "material anatomical entity",
+ "jaw skeleton morphology phenotype",
+ "external male genitalia phenotype",
+ "forelimb long bone",
+ "Short thumb",
+ "Abnormality of the ear",
+ "pectoral appendage",
+ "membrane bone",
+ "primary subdivision of cranial skeletal system phenotype",
+ "decreased size of the bone of pectoral complex",
+ "decreased length of digit",
+ "mandible morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "musculoskeletal system phenotype",
+ "skull phenotype",
+ "absent anatomical entity",
+ "cell",
+ "ear physiology phenotype",
+ "mandible",
+ "manual digit",
+ "Squamous cell carcinoma",
+ "Cryptorchidism",
+ "limb endochondral element",
+ "shape kidney",
+ "aplasia or hypoplasia of skeleton",
+ "tube",
+ "Abnormality of blood and blood-forming tissues",
+ "radius bone morphology phenotype",
+ "face phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure",
+ "facial skeleton morphology phenotype",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "nucleate cell",
+ "anatomical entity hypoplasia",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "forelimb zeugopod bone phenotype",
+ "kidney",
+ "Aplasia/Hypoplasia of the mandible",
+ "Abnormal nervous system morphology",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "visual system phenotype",
+ "aplasia or hypoplasia of mandible",
+ "digit plus metapodial segment",
+ "immune system",
+ "anatomical entity phenotype",
+ "endochondral element phenotype",
+ "dentary phenotype",
+ "decreased size of the bone of free limb or fin",
+ "olfactory organ phenotype",
+ "Abnormal brain morphology",
+ "autopod region",
+ "increased pigmentation in skin of body",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "increased size of the material anatomical entity",
+ "craniocervical region phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "dermal bone",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
+ "head bone morphology phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "anatomical structure",
+ "sense organ phenotype",
+ "bone element",
+ "mesoderm-derived structure",
+ "facial bone",
+ "anatomical system phenotype",
+ "aplasia or hypoplasia of manual digit 1",
+ "testis",
+ "absent material anatomical entity in the multicellular organism",
+ "hemolymphoid system",
+ "erythrocyte",
+ "Upper limb undergrowth",
+ "hematopoietic cell",
+ "musculoskeletal system",
+ "paired limb/fin segment",
"musculature phenotype",
- "regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth"
+ "regulation of cellular process phenotype",
+ "blood cell",
+ "myeloid cell",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "absent material anatomical entity",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "material entity",
+ "regional part of brain phenotype",
+ "organ",
+ "anatomical entity",
+ "craniocervical region morphology phenotype",
+ "continuant",
+ "secretory cell",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "leukocyte",
+ "concave 3-D shape anatomical entity",
+ "intramembranous bone",
+ "vestibulo-auditory system phenotype",
+ "appendicular skeletal system",
+ "phenotype"
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 20,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0012565",
+ "id": "MONDO:0024525",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group N",
+ "name": "Fanconi renotubular syndrome 1",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.",
+ "description": null,
"xref": [
- "DOID:0111094",
- "GARD:15500",
- "MEDGEN:372133",
- "MESH:C563657",
- "OMIM:610832",
- "UMLS:C1835817"
+ "DOID:0080757",
+ "MEDGEN:1635492",
+ "OMIM:134600",
+ "UMLS:C4551503"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCN",
- "Fanconi Anemia, complementation group type N",
- "Fanconi anaemia caused by mutation in PALB2",
- "Fanconi anaemia complementation group type N",
- "Fanconi anemia caused by mutation in PALB2",
- "Fanconi anemia complementation group N",
- "Fanconi anemia complementation group type N",
- "Fanconi anemia, complementation group N",
- "PALB2 Fanconi anaemia",
- "PALB2 Fanconi anemia"
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0002984",
- "HP:0002885",
- "HP:0001631",
- "HP:0009778",
- "HP:0000125",
- "HP:0002667",
- "HP:0009777",
- "HP:0000568",
- "HP:0004808",
- "HP:0001518",
- "HP:0001915",
- "HP:0000470",
- "HP:0003221",
- "HP:0000252",
- "HP:0003006",
- "HP:0008897",
- "HP:0000953",
- "HP:0000316",
- "HP:0000957",
- "HP:0001629",
- "HP:0000085",
- "HP:0000086",
- "HP:0000122",
- "HP:0002023",
- "HP:0000286"
+ "HP:0001942",
+ "HP:0002148",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
+ "HP:0003076",
+ "HP:0003155",
+ "HP:0003355",
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083"
],
"has_phenotype_label": [
- "Hypoplasia of the radius",
- "Medulloblastoma",
- "Atrial septal defect",
- "Short thumb",
- "Pelvic kidney",
- "Nephroblastoma",
- "Absent thumb",
- "Microphthalmia",
- "Acute myeloid leukemia",
- "Small for gestational age",
- "Aplastic anemia",
- "Short neck",
- "Chromosomal breakage induced by crosslinking agents",
- "Microcephaly",
- "Neuroblastoma",
- "Postnatal growth retardation",
- "Hyperpigmentation of the skin",
- "Hypertelorism",
- "Cafe-au-lait spot",
- "Ventricular septal defect",
- "Horseshoe kidney",
- "Ectopic kidney",
- "Unilateral renal agenesis",
- "Anal atresia",
- "Epicanthus"
+ "Metabolic acidosis",
+ "Hypophosphatemia",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
+ "Glycosuria",
+ "Elevated circulating alkaline phosphatase concentration",
+ "Aminoaciduria",
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency"
],
"has_phenotype_closure": [
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0075878",
- "UPHENO:0072255",
- "UBERON:0001711",
- "UPHENO:0005319",
- "UPHENO:0072414",
- "UBERON:0034921",
- "UPHENO:0072415",
- "UBERON:0013766",
- "UBERON:0001084",
- "UPHENO:0001134",
- "UPHENO:0003021",
- "UPHENO:0076761",
- "UBERON:0001457",
- "UBERON:0012180",
- "UPHENO:0072402",
- "UPHENO:0001360",
- "HP:0025033",
- "UPHENO:0002839",
- "UBERON:0004111",
- "UPHENO:0063594",
+ "HP:0000083",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "CHEBI:35605",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "CHEBI:33608",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UPHENO:0046286",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:18133",
+ "CHEBI:35381",
+ "CHEBI:16646",
+ "CHEBI:78616",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "HP:0000924",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0004765",
+ "UPHENO:0002559",
+ "UPHENO:0076692",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
+ "CHEBI:33839",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
+ "UPHENO:0003432",
+ "UPHENO:0081544",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
+ "HP:0032943",
+ "CHEBI:60911",
+ "HP:0003109",
+ "UPHENO:0051686",
+ "HP:0003110",
+ "UPHENO:0002530",
+ "UBERON:0001088",
+ "UPHENO:0051709",
+ "UPHENO:0068110",
"UBERON:0000025",
- "HP:0004378",
- "UPHENO:0063581",
- "HP:0034915",
- "UPHENO:0063599",
- "UPHENO:0074230",
- "UPHENO:0063577",
- "UPHENO:0002833",
- "UPHENO:0002859",
- "UBERON:0001007",
- "UPHENO:0074228",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "UPHENO:0074237",
- "UPHENO:0074229",
- "UPHENO:0011739",
- "UPHENO:0026227",
- "UPHENO:0026600",
- "UPHENO:0011931",
- "UPHENO:0025661",
- "UPHENO:0011533",
- "UPHENO:0027014",
- "UPHENO:0009011",
- "UPHENO:0026980",
- "UPHENO:0026630",
- "HP:0000104",
- "HP:0000122",
- "UPHENO:0002812",
- "UPHENO:0025187",
- "UPHENO:0025211",
- "UPHENO:0026507",
- "UPHENO:0008545",
- "UPHENO:0026309",
- "UPHENO:0026504",
- "UPHENO:0041226",
- "UPHENO:0041821",
- "UPHENO:0080300",
- "UPHENO:0008827",
- "HP:0001713",
- "UPHENO:0033604",
- "UPHENO:0074245",
- "HP:0001629",
- "HP:0010438",
- "UPHENO:0003828",
- "UBERON:0002094",
- "HP:0001034",
- "HP:0000957",
- "HP:0011355",
- "UBERON:0010222",
- "HP:0000316",
- "UPHENO:0001072",
- "UPHENO:0002887",
- "UPHENO:0072185",
- "UPHENO:0072200",
- "UPHENO:0002864",
- "UPHENO:0001304",
- "UPHENO:0002962",
- "UBERON:0000466",
- "UPHENO:0018424",
- "UPHENO:0072195",
- "UBERON:0000015",
- "UPHENO:0003811",
- "HP:0000286",
- "UPHENO:0074584",
- "HP:0002023",
- "UPHENO:0050008",
- "UBERON:0002097",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "UPHENO:0080377",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "UBERON:0001008",
"UPHENO:0000543",
- "HP:0001510",
- "HP:0008897",
- "HP:0004376",
- "HP:0030065",
- "UPHENO:0011770",
- "NCBITaxon:6072",
- "UBERON:0002082",
- "UBERON:0000073",
- "BFO:0000141",
- "UBERON:0003129",
- "NCBITaxon:2759",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "UPHENO:0072345",
- "UPHENO:0086866",
- "HP:0012443",
- "HP:0007364",
- "UPHENO:0002902",
- "UBERON:0000955",
- "UPHENO:0072264",
- "UBERON:0002616",
- "UPHENO:0076805",
- "UPHENO:0003001",
- "HP:0000252",
- "UBERON:0010323",
- "HP:0030061",
- "UBERON:0000481",
- "HP:0030669",
- "HP:0002060",
- "UPHENO:0025631",
- "UPHENO:0004802",
- "UBERON:0001890",
- "GO:0060255",
- "UPHENO:0011559",
- "GO:0009889",
- "GO:0031323",
- "GO:0009892",
- "UPHENO:0050126",
- "UPHENO:0049757",
- "UPHENO:0049743",
- "UPHENO:0049868",
- "UPHENO:0050040",
- "UPHENO:0050007",
- "GO:0010629",
- "UPHENO:0078606",
- "HP:0003221",
- "UPHENO:0049904",
- "GO:0019222",
- "UPHENO:0049620",
- "UBERON:0002416",
- "HP:0040012",
+ "UPHENO:0003413",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
+ "UBERON:0005173",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "UPHENO:0002346",
+ "HP:0000079",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
+ "UBERON:0002100",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
"UPHENO:0000541",
- "UPHENO:0049775",
- "GO:0009890",
- "UBERON:0034944",
- "HP:0001000",
- "GO:0010605",
- "GO:0031324",
- "GO:0005623",
- "UPHENO:0050435",
- "HP:0003220",
- "GO:0031052",
- "UPHENO:0050025",
- "UBERON:0002199",
- "GO:0031327",
- "HP:0000953",
- "GO:0065007",
+ "UPHENO:0002909",
+ "CHEBI:24833",
+ "UBERON:0004111",
+ "UPHENO:0084654",
+ "UPHENO:0066921",
+ "HP:0011042",
+ "HP:0032180",
+ "UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
"GO:0042592",
- "UPHENO:0050778",
- "GO:0031049",
- "GO:0050789",
- "UPHENO:0002654",
- "UPHENO:0001025",
- "UBERON:0006072",
- "UBERON:0002412",
- "UPHENO:0002769",
- "UPHENO:0002616",
- "UPHENO:0002674",
- "UBERON:0008001",
- "UBERON:0015007",
- "HP:0030063",
- "UBERON:0004247",
- "UBERON:0010913",
- "HP:0009121",
- "UBERON:0000974",
- "UBERON:0001137",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "HP:0025668",
- "UBERON:0002090",
- "UBERON:0001130",
- "HP:0003319",
- "HP:0032039",
- "UBERON:0005944",
- "UPHENO:0004621",
- "UBERON:0006077",
- "UPHENO:0003038",
- "UPHENO:0046571",
- "UPHENO:0003092",
- "UPHENO:0002646",
- "UPHENO:0002813",
- "UPHENO:0004047",
- "UBERON:0005434",
- "UPHENO:0008593",
- "UBERON:0005174",
- "UPHENO:0026308",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UPHENO:0004459",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
+ "UPHENO:0034351",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
"UBERON:0000479",
- "HP:0001873",
- "UPHENO:0063794",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0049642",
- "UPHENO:0085371",
- "HP:0001915",
- "UPHENO:0077391",
- "HP:0020047",
- "CL:0000764",
- "HP:0001876",
- "CL:0000232",
- "CL:0000233",
- "CL:0000081",
- "UPHENO:0085344",
- "UPHENO:0077418",
- "UPHENO:0008816",
- "CL:0000225",
- "UBERON:1000021",
- "UPHENO:0085302",
- "UPHENO:0063722",
- "HP:0011873",
- "HP:0012145",
- "UPHENO:0010799",
- "HP:0002977",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0015410",
- "CL:0000457",
- "UPHENO:0015277",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0002548",
- "HP:0000086",
- "HP:0000707",
- "HP:0100886",
- "UPHENO:0076791",
- "UBERON:0000915",
- "HP:0012639",
- "CL:0002031",
- "UPHENO:0004469",
- "GO:0010556",
- "UPHENO:0003827",
- "UPHENO:0003027",
- "HP:0100836",
- "UPHENO:0053580",
- "UBERON:0010707",
- "UPHENO:0001147",
- "UPHENO:0086857",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0074575",
- "HP:0011842",
- "UPHENO:0075804",
- "HP:0000119",
- "HP:0030067",
- "UPHENO:0012440",
- "UPHENO:0069062",
- "UPHENO:0033565",
- "UPHENO:0053563",
- "UPHENO:0081466",
- "HP:0009821",
- "UBERON:0010000",
- "UPHENO:0002964",
- "UBERON:0005451",
- "UPHENO:0046483",
- "UPHENO:0001570",
- "UPHENO:0002983",
- "UPHENO:0069194",
- "UPHENO:0080010",
- "UBERON:0002529",
- "UBERON:0000062",
- "UPHENO:0002643",
- "GO:0008152",
- "UPHENO:9002003",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
- "UPHENO:0003065",
- "UPHENO:0076941",
- "UPHENO:0002637",
- "UPHENO:0054957",
- "UPHENO:0010763",
- "UBERON:0002495",
- "UPHENO:0002530",
- "HP:0002984",
- "UPHENO:0002559",
- "UPHENO:0003227",
- "HP:0011875",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "CHEBI:36357",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
"UPHENO:0002832",
- "UPHENO:0008548",
- "UPHENO:0001303",
- "UPHENO:0081204",
- "HP:0009115",
- "UBERON:0000465",
- "UPHENO:0072359",
- "UPHENO:0002927",
- "UBERON:0002204",
- "UPHENO:0027017",
- "HP:0100547",
- "UPHENO:0053643",
- "HP:0002664",
- "UPHENO:0002910",
- "UPHENO:0005214",
- "UBERON:0001008",
- "HP:0000077",
- "HP:0011121",
- "UPHENO:0003410",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
+ "UBERON:0000174",
+ "UPHENO:0002386",
"UPHENO:0069327",
- "UPHENO:0025776",
- "UPHENO:0004521",
- "UPHENO:0002656",
- "UPHENO:0069125",
- "UBERON:0001245",
- "HP:0045060",
- "UBERON:0001434",
- "UBERON:0015212",
- "UBERON:0004381",
- "UBERON:0005173",
- "CL:0001035",
- "UPHENO:0015324",
- "UPHENO:0046750",
- "HP:0000271",
- "HP:0040068",
- "UPHENO:0002659",
- "HP:0002973",
- "CL:0011115",
- "UBERON:0000383",
- "GO:0043473",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
+ "UPHENO:0002963",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
"HP:0001939",
- "HP:0010987",
- "UPHENO:0012308",
- "UBERON:0001062",
- "UPHENO:0002525",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046455",
- "HP:0006501",
- "HP:0000925",
- "UBERON:0010740",
- "UPHENO:0008825",
- "UPHENO:0068898",
- "UBERON:0019231",
- "UPHENO:0046538",
- "UPHENO:0002593",
- "UPHENO:0086956",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
+ "BFO:0000002",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
"UPHENO:0002949",
- "UPHENO:0076740",
- "UBERON:0001423",
- "UBERON:0002101",
- "UPHENO:0002866",
- "HP:0011793",
- "UBERON:0011137",
- "UBERON:0004535",
- "UPHENO:0011749",
- "UPHENO:0026010",
- "GO:0008150",
- "UPHENO:0076703",
+ "UBERON:0000465",
+ "UPHENO:0001003",
"UBERON:0003103",
- "UPHENO:0084448",
- "UBERON:0002470",
- "UPHENO:0046479",
- "UPHENO:0080079",
- "HP:0005120",
- "UPHENO:0046445",
- "UPHENO:0046552",
- "UPHENO:0068912",
- "UBERON:0015061",
- "CL:0011026",
- "UPHENO:0002650",
- "UBERON:0010741",
- "UPHENO:0072263",
- "UBERON:0011582",
- "UBERON:5002544",
- "UBERON:0004151",
- "UPHENO:0075944",
- "UPHENO:0086644",
- "GO:0010468",
- "UBERON:0010758",
- "UPHENO:0050063",
- "UPHENO:0003074",
- "UPHENO:0087472",
- "UPHENO:0002568",
- "UBERON:0034925",
- "HP:0002011",
- "HP:0001909",
- "UBERON:0008962",
- "UBERON:0001893",
- "GO:0010558",
- "UPHENO:0077373",
- "UPHENO:0068839",
- "UBERON:0006800",
- "UBERON:0001009",
- "UPHENO:0033560",
- "UBERON:0007100",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UBERON:0008785",
- "UPHENO:0041465",
- "HP:0000315",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UBERON:0012141",
- "UPHENO:0003049",
- "UPHENO:0003020",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0015281",
- "CL:0000329",
- "HP:0000001",
- "UBERON:0001015",
- "UBERON:0002513",
- "UPHENO:0046528",
- "UPHENO:0002536",
- "UPHENO:0076727",
- "UPHENO:0002554",
- "UPHENO:0054970",
- "UBERON:0001440",
- "HP:0011844",
- "UBERON:0001032",
- "HP:0025354",
- "UPHENO:0002750",
- "UPHENO:0046540",
- "UPHENO:0003004",
- "UBERON:0002081",
- "UPHENO:0002880",
- "UPHENO:0069030",
- "UPHENO:0068932",
- "UBERON:0004456",
- "UBERON:0003607",
- "UPHENO:0063596",
- "UPHENO:0009020",
- "UPHENO:0081581",
- "UBERON:0002471",
- "HP:0100542",
- "UPHENO:0053612",
- "UBERON:0010703",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0003815",
- "UBERON:0004765",
- "RO:0002577",
- "UPHENO:0002746",
- "UPHENO:0080099",
- "UPHENO:0087510",
- "HP:0025031",
- "HP:0002667",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0006496",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "UBERON:0000467",
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904"
+ ],
+ "has_phenotype_closure_label": [
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
+ "organic molecule",
+ "muscle organ",
+ "increased level of organic acid in urine",
+ "oxoacid",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
+ "urine glucose level phenotype",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
+ "Abnormal urinary organic compound level",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
+ "polypeptide",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
+ "protein polypeptide chain",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
+ "Metabolic acidosis",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
+ "abdominal segment element phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
+ "decreased level of phosphate in blood",
+ "nephron epithelium phenotype",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "trunk",
+ "epithelial tube",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
+ "main body axis",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
+ "abdomen element",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "Acidosis",
+ "nephron epithelium",
+ "Abnormal blood phosphate concentration",
+ "renal system",
+ "phosphate",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "lateral structure",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
+ "Abnormality of the musculoskeletal system",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
+ "skeletal element",
+ "increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
+ "anatomical system physiology phenotype",
+ "anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
+ "skeletal element phenotype",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "anatomical system",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "monoatomic entity",
+ "body proper",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "bodily fluid",
+ "phosphoric acid derivative",
+ "racemate",
+ "blood phosphate level phenotype",
+ "blood monoatomic ion level phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "haemolymphatic fluid",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
+ "biological_process phenotype",
+ "Elevated circulating alkaline phosphatase concentration",
+ "compound organ",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
+ "blood phenotype",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
+ "phenotype",
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity"
+ ],
+ "has_phenotype_count": 16,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0014985",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group V",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "xref": [
+ "DOID:0111080",
+ "GARD:16213",
+ "MEDGEN:934619",
+ "OMIM:617243",
+ "UMLS:C4310652"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCV",
+ "Fanconi Anemia, complementation Group 5",
+ "Fanconi Anemia, complementation group V",
+ "Fanconi Anemia, complementation group type V",
+ "Fanconi anaemia caused by mutation in MAD2L2",
+ "Fanconi anaemia complementation group type V",
+ "Fanconi anemia caused by mutation in MAD2L2",
+ "Fanconi anemia complementation group type V",
+ "Fanconi anemia, complementation GROUP V",
+ "MAD2L2 Fanconi anaemia",
+ "MAD2L2 Fanconi anemia"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0001875",
+ "HP:0001873",
+ "HP:0005528",
+ "HP:0006254",
+ "HP:0003221",
+ "HP:0001903",
+ "HP:0004322",
+ "HP:0000252"
+ ],
+ "has_phenotype_label": [
+ "Neutropenia",
+ "Thrombocytopenia",
+ "Bone marrow hypocellularity",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Anemia",
+ "Short stature",
+ "Microcephaly"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0004704",
"UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0069047",
- "BFO:0000040",
- "UPHENO:0086633",
- "UPHENO:0072355",
- "UPHENO:0011825",
- "UPHENO:0068838",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0002905",
- "UPHENO:0080325",
- "HP:0033127",
- "HP:0000924",
- "UPHENO:0069161",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "UPHENO:0087349",
- "UPHENO:0074227",
- "UPHENO:0001001",
- "UBERON:0002386",
- "UPHENO:0001584",
- "UPHENO:0003812",
- "UPHENO:0011817",
- "GO:0050794",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "HP:0009601",
- "UPHENO:3000004",
- "HP:0001671",
- "UPHENO:0086700",
- "HP:0000492",
- "HP:0002817",
- "UPHENO:0003799",
- "UBERON:0004121",
- "HP:0100006",
- "UPHENO:0087501",
- "UPHENO:0002945",
- "UPHENO:0046392",
- "UPHENO:0002861",
- "UBERON:0011584",
- "HP:0005561",
- "UBERON:0004120",
- "UBERON:0000026",
- "UPHENO:0076718",
+ "UPHENO:0004523",
+ "UPHENO:0076799",
"HP:0040195",
- "HP:0001881",
- "UBERON:0004710",
- "UPHENO:0002896",
- "HP:0012210",
- "UPHENO:0003095",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UBERON:0007272",
- "CL:0000151",
- "HP:0009778",
- "UBERON:0010712",
- "UBERON:0000061",
- "UPHENO:0069163",
- "UBERON:0002100",
- "UBERON:0002428",
- "UBERON:0000467",
- "UPHENO:0033559",
- "HP:0008678",
- "UBERON:0015021",
- "HP:0003026",
- "UBERON:0003466",
- "UPHENO:0069292",
- "CL:0000839",
- "UPHENO:0069064",
+ "UBERON:0011676",
+ "UPHENO:0081566",
+ "HP:0100547",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "UBERON:0011138",
+ "UBERON:0000475",
+ "NCBITaxon:2759",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "HP:0000924",
+ "UPHENO:0076805",
+ "UBERON:0010314",
+ "UPHENO:0004521",
+ "UPHENO:0002844",
+ "UPHENO:0002736",
+ "UBERON:0000153",
+ "UPHENO:0087907",
"UBERON:0010912",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UPHENO:0086854",
- "UPHENO:0054374",
- "UPHENO:0082794",
- "UPHENO:0002594",
- "HP:0009815",
- "HP:0007400",
- "UBERON:0003458",
- "UPHENO:0003084",
- "UPHENO:0046484",
- "UBERON:0011216",
- "UBERON:0035639",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:0001369",
- "HP:0009824",
- "HP:0000929",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0002371",
- "HP:0001627",
- "UPHENO:0003432",
- "UBERON:0012354",
- "HP:0040064",
- "UPHENO:0079872",
- "HP:0005922",
- "UBERON:0011249",
- "UBERON:0000014",
- "PATO:0000001",
- "UPHENO:0046403",
- "UPHENO:0079876",
- "UBERON:0012475",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "UPHENO:0002754",
+ "UBERON:0001015",
"UBERON:0000075",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0002413",
- "UPHENO:0001003",
- "UPHENO:0076723",
- "UPHENO:0072194",
- "UPHENO:0012274",
- "UPHENO:0026181",
- "UBERON:0000161",
- "UPHENO:0002531",
- "HP:0004375",
- "UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0046465",
- "UBERON:0003606",
- "HP:0001574",
- "UPHENO:0049587",
- "OBI:0100026",
- "UPHENO:0002963",
- "HP:0003006",
- "UPHENO:0046594",
- "UPHENO:0003050",
- "HP:0000464",
- "UPHENO:0069236",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UPHENO:0002934",
- "UPHENO:3000007",
- "UPHENO:0046460",
- "UPHENO:0069523",
- "HP:0002813",
- "BFO:0000002",
- "UPHENO:0077348",
+ "UPHENO:0002764",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "UPHENO:0086589",
+ "UBERON:0002090",
+ "UPHENO:0003025",
+ "UBERON:0001893",
+ "UBERON:0000073",
+ "UPHENO:0002902",
+ "UBERON:0034925",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UPHENO:0076703",
+ "NCBITaxon:33154",
+ "UPHENO:0069254",
"GO:0040007",
- "BFO:0000001",
- "HP:0009726",
+ "UPHENO:0080351",
+ "UBERON:0004288",
+ "UPHENO:0069266",
+ "UPHENO:0000541",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UBERON:0000383",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0003432",
+ "UPHENO:0088162",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
+ "UPHENO:0088170",
+ "UBERON:0000955",
+ "CL:0000764",
+ "UBERON:0011137",
+ "UPHENO:0049743",
+ "UBERON:0002616",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0075159",
+ "HP:0040012",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "GO:0009892",
+ "UBERON:0001890",
+ "GO:0065007",
+ "CHEBI:36963",
+ "UPHENO:0050025",
+ "HP:0001903",
+ "GO:0010605",
+ "HP:0000707",
+ "UPHENO:0049757",
+ "GO:0005623",
+ "UPHENO:0050065",
+ "CHEBI:36962",
+ "UPHENO:0050040",
+ "GO:0031326",
+ "UPHENO:0049775",
+ "UPHENO:0002526",
+ "GO:0031052",
+ "GO:0031049",
+ "GO:0010629",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:0002976",
+ "GO:0050794",
+ "HP:0001874",
+ "BFO:0000004",
+ "UPHENO:0078606",
+ "UPHENO:0049642",
"NCBITaxon:1",
- "HP:0004325",
- "UPHENO:0046472",
- "UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0053588",
- "UPHENO:0002785",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "GO:0031323",
+ "GO:0048519",
+ "HP:0000240",
+ "BFO:0000015",
+ "UPHENO:0048751",
+ "GO:0009890",
+ "NCBITaxon:33208",
+ "UPHENO:0089764",
+ "CHEBI:15841",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "HP:0002060",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UPHENO:0063794",
+ "CHEBI:33304",
+ "HP:0002011",
+ "HP:0011017",
+ "CHEBI:33302",
"HP:0000152",
- "UPHENO:0003514",
- "UBERON:0010708",
- "UPHENO:0081091",
- "UBERON:0015001",
- "UPHENO:0009209",
- "HP:0002885",
- "UPHENO:0004831",
- "UPHENO:0041629",
- "HP:0001631",
- "UPHENO:0050784",
- "UPHENO:0054315",
- "UPHENO:0015308",
- "UPHENO:0003088",
- "UPHENO:0046707",
- "UBERON:0010314",
- "UBERON:0015228",
- "UBERON:0005881",
- "HP:0001626",
- "UPHENO:0086855",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0002719",
- "UBERON:0003460",
- "HP:0030680",
- "UPHENO:0033607",
- "UPHENO:0003086",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0076739",
- "UPHENO:0010795",
- "HP:0005773",
- "UPHENO:0002733",
+ "HP:0000252",
+ "GO:0042592",
+ "CHEBI:24431",
+ "CHEBI:50860",
+ "CHEBI:25806",
+ "CHEBI:16541",
+ "UPHENO:0076702",
+ "HP:0011873",
+ "UPHENO:0002532",
+ "UPHENO:0077391",
+ "UPHENO:0046378",
+ "PR:000003809",
+ "HP:0012443",
+ "HP:0003221",
+ "UPHENO:0089759",
"UBERON:0013701",
- "UBERON:0009569",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "BFO:0000015",
- "UBERON:0002085",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0004827",
- "UBERON:0000064",
- "UPHENO:0033590",
- "UPHENO:0004507",
- "UPHENO:0076776",
- "UBERON:0001460",
- "UBERON:0019221",
- "UPHENO:0076810",
- "HP:0011927",
- "UPHENO:0072332",
- "UPHENO:0087427",
- "HP:0006265",
- "UBERON:0005178",
- "UBERON:0003037",
- "UBERON:0001463",
- "CL:0000835",
- "HP:0001872",
- "UBERON:0002099",
- "UBERON:0006048",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0069684",
- "HP:0030060",
- "UPHENO:0046740",
- "UPHENO:0046624",
- "UPHENO:0004476",
- "CL:0000458",
- "UPHENO:0084761",
- "UBERON:0004451",
- "UPHENO:3000000",
- "CL:0008001",
- "UBERON:5002389",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0046741",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "UPHENO:0069605",
- "UPHENO:0053561",
- "UPHENO:0003082",
- "UPHENO:0033572",
- "UPHENO:0087907",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "HP:0009381",
- "UPHENO:0088166",
- "UBERON:0012477",
- "UPHENO:0046531",
- "UBERON:5006048",
- "NCBITaxon:131567",
- "UPHENO:0053633",
- "UPHENO:0002635",
- "UBERON:0004375",
- "HP:0001167",
- "UPHENO:0046426",
- "GO:0048519",
- "UPHENO:0046411",
- "HP:0012733",
- "UBERON:0002544",
- "UPHENO:0010850",
- "UPHENO:0080114",
- "UBERON:0002389",
- "UPHENO:0009021",
- "HP:0011297",
- "UPHENO:0072293",
- "GO:0048523",
- "UPHENO:0053610",
- "UPHENO:0002909",
- "UPHENO:0087307",
- "UBERON:0001712",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069674",
- "UPHENO:0053619",
- "UBERON:0002417",
- "HP:0010935",
- "UPHENO:0053632",
- "HP:0000470",
- "CL:0000988",
- "UBERON:0001474",
- "UPHENO:0004386",
- "UPHENO:0002803",
- "UPHENO:0086635",
- "UPHENO:0075902",
- "UPHENO:0069328",
- "HP:0000125",
- "UPHENO:0046505",
- "UBERON:0002104",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0003093",
+ "UPHENO:0050435",
+ "HP:0045056",
+ "CHEBI:37622",
+ "UBERON:0000179",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "UPHENO:0086019",
+ "BFO:0000003",
+ "CL:0000232",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0086176",
+ "UPHENO:0048707",
+ "PR:000000001",
+ "UPHENO:0051612",
+ "CHEBI:33839",
+ "UBERON:0000062",
+ "HP:0032180",
+ "UBERON:0000178",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "UPHENO:0004505",
+ "UPHENO:0051804",
+ "CL:0001035",
+ "HP:0012145",
+ "CHEBI:32988",
+ "UPHENO:0085302",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "HP:0002977",
+ "GO:0009987",
+ "HP:0005561",
+ "UPHENO:0005092",
"HP:0000118",
- "UPHENO:0018390",
- "UPHENO:0025585",
- "UBERON:0002398",
- "UPHENO:0053601",
- "UPHENO:0002642",
- "UPHENO:0063565",
- "HP:0001507",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0007811",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0005181",
- "UPHENO:0076779",
- "UPHENO:0086589",
- "UBERON:0010538",
- "UPHENO:0053566",
- "UBERON:0011143",
- "UBERON:0002113",
- "UPHENO:0050065",
- "UPHENO:0075655",
- "HP:0011794",
- "HP:0011792",
- "HP:0010786",
- "HP:0007379",
- "UPHENO:0008668",
- "HP:0002898",
- "UPHENO:0011498",
- "UPHENO:0009382",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:3000003",
- "UBERON:0006058",
- "UPHENO:0011531",
- "UPHENO:0025507",
- "UPHENO:0025587",
- "HP:0000079",
- "UPHENO:0081451",
+ "UPHENO:0076286",
+ "UBERON:0001474",
+ "CL:0000225",
+ "HP:0010876",
+ "UPHENO:0003004",
+ "UBERON:0000479",
+ "CHEBI:33582",
+ "PR:000018263",
+ "HP:0032251",
+ "HP:0011875",
+ "PR:000064867",
+ "UBERON:0013702",
+ "HP:0001872",
+ "UPHENO:0002963",
+ "CL:0000766",
+ "UPHENO:0002536",
"UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0004595",
- "UPHENO:0026183",
- "UPHENO:0026146",
- "UPHENO:0009146",
- "UPHENO:0009129",
- "UPHENO:0003069",
- "CL:0000763",
- "UPHENO:0026640",
- "UPHENO:0041075",
- "UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UPHENO:0026643",
- "UPHENO:0004494",
- "HP:0000951",
- "HP:0000240",
- "UPHENO:0005058",
- "HP:0011994",
- "UBERON:0005177",
- "UBERON:0001444",
- "UBERON:0000970",
- "HP:0008056",
- "UBERON:0010230",
- "UPHENO:0005097",
- "HP:0000234",
- "UBERON:0000033",
- "UPHENO:0080209",
- "UPHENO:0087123",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0002693",
- "UPHENO:0004757",
- "UPHENO:0075219",
- "UBERON:0010363",
- "HP:0000568",
- "UPHENO:0002976",
- "UBERON:0004122",
- "CL:0002191",
- "UPHENO:0002586",
- "UPHENO:0011536",
- "UPHENO:0086863",
- "UPHENO:0002764",
- "HP:0000085",
- "UBERON:0004088",
- "UBERON:0001456",
- "HP:0012372",
- "HP:0000478",
- "UBERON:0000916",
- "UPHENO:0002844",
- "UPHENO:0001231",
- "UPHENO:0002928",
- "UBERON:0001555",
- "UBERON:0000020",
- "UBERON:0000047",
- "CL:0002092",
- "UBERON:0000019",
- "UPHENO:0087058",
"CL:0000000",
- "UBERON:0000948",
- "HP:0004377",
- "UPHENO:0082761",
- "HP:0009826",
- "HP:0002488",
- "HP:0004808",
+ "UPHENO:0001001",
+ "HP:0009121",
+ "UBERON:0002405",
+ "UPHENO:0085330",
+ "UBERON:0004120",
+ "UPHENO:0049904",
+ "HP:0001510",
+ "HP:0002715",
+ "UBERON:0000033",
+ "UPHENO:0002568",
+ "UPHENO:0011498",
+ "CHEBI:23367",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UPHENO:0004459",
+ "UPHENO:0063787",
+ "HP:0011991",
+ "UPHENO:0076675",
+ "HP:0005528",
+ "UPHENO:0002948",
+ "UBERON:0001016",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "CHEBI:16670",
+ "CL:0000738",
"CL:0000219",
- "HP:0100887",
- "CL:0002242",
- "UPHENO:0011572",
+ "UPHENO:0085344",
+ "UBERON:0007811",
+ "HP:0033127",
+ "BFO:0000040",
+ "CL:0000763",
+ "UPHENO:0046284",
+ "UPHENO:0077418",
+ "HP:0001877",
+ "CL:0000775",
+ "UPHENO:0069062",
+ "CL:0000081",
+ "CL:0000151",
+ "GO:0010556",
+ "HP:0000929",
+ "UPHENO:0077348",
+ "HP:0001875",
+ "UBERON:0006314",
+ "CL:0002092",
+ "UPHENO:0087123",
+ "UBERON:0002390",
+ "UPHENO:0088166",
+ "HP:0000234",
+ "UPHENO:0002530",
+ "UBERON:0001062",
+ "UPHENO:0077826",
+ "UPHENO:0002548",
+ "UBERON:0000468",
+ "UPHENO:0081547",
+ "UBERON:0002371",
+ "HP:0010974",
+ "UBERON:0000465",
+ "UPHENO:0000543",
"CL:0000255",
+ "UBERON:0005944",
+ "UPHENO:0077822",
+ "UPHENO:0001003",
+ "HP:0001871",
+ "HP:0032309",
+ "CL:0000458",
+ "UPHENO:0001002",
"UBERON:0002193",
- "UBERON:0002390",
- "UBERON:0011138",
- "CL:0000738",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0002948",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0077399",
+ "UPHENO:3000000",
+ "UBERON:0010000",
+ "CL:0000233",
+ "UPHENO:0086016",
+ "UPHENO:0063722",
+ "UBERON:0004121",
+ "UPHENO:0050784",
+ "UBERON:0015203",
+ "UPHENO:0080079",
+ "UPHENO:0088176",
+ "BFO:0000002",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "HP:0000001",
+ "UPHENO:0049868",
+ "UPHENO:0080200",
+ "GO:0019222",
+ "UPHENO:0085354",
+ "UPHENO:0004503",
+ "UBERON:0011216",
+ "CL:0002242",
+ "CL:0000988",
+ "PR:000050567",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0010987",
+ "HP:0006254",
+ "UPHENO:0002554",
+ "UPHENO:0011531",
+ "UPHENO:0085356",
+ "CHEBI:36357",
+ "NCBITaxon:131567",
"UBERON:0034923",
+ "UPHENO:0076692",
+ "CHEBI:35352",
+ "UBERON:0000467",
+ "CL:0000094",
"UPHENO:0086172",
- "HP:0001871",
- "HP:0011017",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0002969",
- "HP:0001172",
- "HP:0002715",
- "UPHENO:0010808",
- "HP:0011314",
- "HP:0032251",
- "HP:0004323",
- "HP:0001518",
- "UBERON:0002091",
- "UPHENO:0054304",
- "GO:0031326",
- "BFO:0000003"
+ "CL:0000457",
+ "UPHENO:0051763",
+ "HP:0001873",
+ "GO:0048523",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "CL:0000329",
+ "HP:0011893",
+ "UBERON:0010323",
+ "UPHENO:0080010",
+ "HP:0001881",
+ "CHEBI:33256",
+ "UPHENO:0077373",
+ "CHEBI:51143",
+ "UBERON:0004765",
+ "UPHENO:0011536"
],
"has_phenotype_closure_label": [
- "increased length of the skin of eyelid",
- "increased length of the ectoderm-derived structure",
- "skin of face morphology phenotype",
- "increased size of the zone of organ",
- "increased size of the multicellular anatomical structure",
- "increased length of the material anatomical entity",
- "increased size of the material anatomical entity",
- "increased length of the multicellular anatomical structure",
- "zone of organ",
- "ocular adnexa",
- "eyelid phenotype",
- "increased length of the zone of organ",
- "epicanthal fold",
- "zone of organ phenotype",
- "zone of skin morphology phenotype",
- "skin of eyelid",
- "eyelid",
- "skin of head",
- "tube",
- "closing of the multicellular anatomical structure",
- "Abnormality of the digestive system",
- "Abnormal digestive system morphology",
- "Anal atresia",
- "anus morphology phenotype",
- "ectoderm-derived structure atresia",
- "anatomical conduit phenotype",
- "closing of the material anatomical entity",
- "closing of the anatomical entity",
- "orifice phenotype",
- "anatomical conduit",
- "absent abdomen element",
- "increased size of the anatomical structure",
- "number of anatomical enitites of type compound organ phenotype",
- "absent multicellular anatomical structure in the renal system",
- "absent kidney in the renal system",
- "absent abdomen element in the renal system",
- "number of anatomical enitites of type abdomen element phenotype",
- "Unilateral renal agenesis",
- "absent material anatomical entity in the renal system",
- "absent cavitated compound organ",
- "absent lateral structure in the renal system",
- "absent compound organ in the renal system",
- "closing of the anatomical conduit",
- "number of anatomical enitites of type kidney phenotype",
- "number of anatomical enitites of type cavitated compound organ phenotype",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent lateral structure",
- "shape kidney",
- "concave 3-D shape anatomical entity",
- "Horseshoe kidney",
- "U-shaped kidney",
- "anus atresia",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "incomplete closing of the interventricular septum",
- "Abnormal ventricular septum morphology",
- "Abnormal cardiac ventricle morphology",
- "Localized skin lesion",
- "Hypermelanotic macule",
- "anatomical line",
- "increased size of the immaterial anatomical entity",
- "anatomical line phenotype",
- "Hypertelorism",
- "non-material anatomical boundary",
- "absent organ",
- "increased size of the non-material anatomical boundary",
- "location of eyeball of camera-type eye phenotype",
- "anatomical line between pupils",
- "increased size of the anatomical entity",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical entity",
- "increased length of the anatomical line",
- "multi organ part structure",
- "non-material anatomical boundary phenotype",
- "eyelid morphology phenotype",
- "integumental system",
- "increased biological_process in skin of body",
- "increased pigmentation",
- "increased biological_process",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "skin of body morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "absent abdominal segment element in the renal system",
- "pigmentation phenotype",
- "Abnormal skin morphology",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "delayed growth",
- "Postnatal growth retardation",
- "Growth delay",
- "Peripheral primitive neuroectodermal neoplasm",
- "Neuroepithelial neoplasm",
- "Neuroblastoma",
- "Neuroblastic tumor",
- "Primitive neuroectodermal tumor",
- "Abnormal forebrain morphology",
- "Abnormal brain morphology",
- "telencephalon phenotype",
- "Microcephaly",
- "cellular organisms",
- "brain morphology phenotype",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "brain phenotype",
+ "forebrain",
+ "regional part of nervous system",
+ "Morphological central nervous system abnormality",
"Aplasia/Hypoplasia involving the central nervous system",
+ "central nervous system morphology phenotype",
+ "head",
+ "axial skeleton plus cranial skeleton",
+ "postcranial axial skeleton",
+ "musculoskeletal system phenotype",
+ "Abnormal cerebral morphology",
+ "musculature",
+ "subdivision of skeletal system",
+ "multi-tissue structure",
"Metazoa",
- "Abnormal anus morphology",
- "regional part of nervous system",
- "organism",
- "increased size of the zone of skin",
- "telencephalon morphology phenotype",
- "forebrain",
- "telencephalon",
+ "structure with developmental contribution from neural crest",
+ "nervous system morphology phenotype",
+ "Abnormal skull morphology",
+ "size of skull phenotype",
+ "Opisthokonta",
"Abnormality of skull size",
- "Aplasia/Hypoplasia of the cerebrum",
- "multi-tissue structure",
- "forebrain morphology phenotype",
- "Abnormal cerebral morphology",
- "Abnormality of chromosome stability",
- "programmed DNA elimination by chromosome breakage phenotype",
- "brain",
- "negative regulation of biological process phenotype",
- "regulation of macromolecule metabolic process",
- "cardiac ventricle phenotype",
- "negative regulation of metabolic process",
- "negative regulation of cellular process",
- "Nervous tissue neoplasm",
- "Abnormal cellular physiology",
- "negative regulation of macromolecule metabolic process phenotype",
- "homeostatic process phenotype",
- "negative regulation of gene expression phenotype",
- "absent trunk region element in the renal system",
- "negative regulation of gene expression",
- "regional part of brain phenotype",
- "biological regulation",
- "homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "increased length of the skin of face",
- "regulation of metabolic process phenotype",
- "regulation of cellular biosynthetic process phenotype",
- "delayed biological_process",
- "regulation of gene expression phenotype",
- "regulation of biosynthetic process phenotype",
- "negative regulation of macromolecule metabolic process",
- "obsolete cell",
- "regulation of gene expression",
- "regulation of macromolecule biosynthetic process phenotype",
- "Abnormality of the vertebral column",
- "Abnormal axial skeleton morphology",
- "digestive system morphology phenotype",
- "postcranial axial skeleton phenotype",
- "dorsum",
- "irregular bone phenotype",
- "cervical vertebra endochondral element",
- "shape anatomical entity",
- "trunk or cervical vertebra",
- "neck morphology phenotype",
- "Abnormal neck morphology",
- "irregular bone",
- "regulation of macromolecule metabolic process phenotype",
- "dorsal part of neck",
- "dorsal region element",
- "axial skeleton plus cranial skeleton phenotype",
- "Abnormality of the neck",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "subdivision of vertebral column",
- "cervical region",
- "decreased length of neck",
- "vertebral element phenotype",
- "decreased number of myeloid cell",
- "ocular adnexa phenotype",
- "number of myeloid cell phenotype",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "skeletal system morphology phenotype",
+ "organ phenotype",
+ "telencephalon phenotype",
+ "anatomical collection",
+ "root",
+ "skull morphology phenotype",
+ "musculature of body phenotype",
+ "Abnormality of the head",
+ "Abnormal forebrain morphology",
+ "brain morphology phenotype",
+ "main body axis",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
"Eumetazoa",
- "Abnormality of thrombocytes",
- "skin of head morphology phenotype",
- "Abnormal myeloid cell morphology",
- "decreased number of cell",
- "Chromosome breakage",
- "Abnormal platelet count",
- "bone marrow",
- "bone cell",
- "Abnormality of the anus",
- "oxygen accumulating cell",
- "anucleate cell",
- "secretory cell",
- "decreased number of material anatomical entity",
- "orifice atresia",
- "platelet phenotype",
- "Pancytopenia",
- "Abnormal platelet morphology",
- "absent anatomical entity in the renal system",
- "decreased number of hematopoietic cell",
- "erythrocyte",
- "platelet",
- "blood cell",
- "decreased number of platelet",
- "Abnormality of multiple cell lineages in the bone marrow",
- "Thrombocytopenia",
- "erythroid lineage cell",
- "serotonin secreting cell",
- "tissue",
- "Abnormal cell morphology",
- "decreased number of anatomical entity",
- "Abnormal bone marrow cell morphology",
- "biological_process phenotype",
- "organ part",
- "endochondral bone phenotype",
- "Abnormal cardiac atrium morphology",
- "localised material anatomical entity",
- "abdomen element phenotype",
- "absent organ in the multicellular organism",
- "thoracic segment of trunk",
- "decreased length of bone element",
- "skeletal element phenotype",
- "forelimb zeugopod bone hypoplasia",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
+ "brain",
+ "ectoderm-derived structure phenotype",
+ "central nervous system",
+ "Abnormality of head or neck",
+ "cranial skeletal system",
"ectoderm-derived structure",
- "Short neck",
- "Neoplasm by anatomical site",
- "decreased size of the arm bone",
- "neoplasm phenotype",
- "cardiac septum morphology phenotype",
- "localised multicellular anatomical structure",
+ "musculature phenotype",
+ "telencephalon morphology phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "craniocervical region phenotype",
+ "body proper",
+ "craniocervical region",
+ "Eukaryota",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormality of the nervous system",
+ "head phenotype",
+ "Microcephaly",
+ "aplasia or hypoplasia of anatomical entity",
+ "organ system subdivision phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "decreased size of the multicellular anatomical structure",
+ "decreased height of the multicellular organism",
+ "forebrain phenotype",
+ "decreased size of the anatomical structure",
+ "delayed biological_process",
+ "organism subdivision",
+ "growth phenotype",
"Abnormal nervous system morphology",
- "Abnormality of the cervical spine",
- "renal system phenotype",
- "location of anatomical entity phenotype",
- "Abnormality of blood and blood-forming tissues",
- "Neoplasm",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "manus morphology phenotype",
- "arm phenotype",
- "subdivision of skeleton phenotype",
- "radius bone",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "lateral structure phenotype",
- "Abnormal heart morphology",
"decreased size of the material anatomical entity",
- "decreased length of bone of pectoral complex",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "anatomical entity morphology in the pectoral complex phenotype",
- "heart phenotype",
- "decreased length of bone of free limb or fin",
- "cervical region of vertebral column",
- "renal system",
- "absent organ in the renal system",
- "sense organ phenotype",
- "mesoderm-derived structure phenotype",
- "increased length of the anatomical structure",
- "absent material anatomical entity",
- "zeugopod",
- "arm bone phenotype",
- "regulation of cellular biosynthetic process",
- "Neoplasm by histology",
- "process",
- "aplasia or hypoplasia of anatomical entity",
- "skeleton",
- "organ phenotype",
- "trunk region element phenotype",
- "regulation of biosynthetic process",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "skeleton phenotype",
+ "Growth abnormality",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "musculature of body",
+ "negative regulation of cellular process phenotype",
+ "regional part of brain",
+ "negative regulation of biological process phenotype",
+ "head morphology phenotype",
+ "negative regulation of gene expression phenotype",
+ "negative regulation of biological process",
"Chromosomal breakage induced by crosslinking agents",
- "multicellular organism phenotype",
- "decreased size of the forelimb endochondral element",
- "mesoderm-derived structure morphology in the heart phenotype",
- "autopodial skeleton",
- "increased length of the organ part",
- "subdivision of vertebral column phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "decreased size of the bone of free limb or fin",
- "decreased length of anatomical structure",
- "cardiovascular system",
- "regulation of biological process phenotype",
- "digit 1 plus metapodial segment",
- "decreased length of skeletal element",
- "long bone phenotype",
- "Abnormal atrial septum morphology",
+ "negative regulation of gene expression",
+ "nervous system",
+ "biological regulation",
+ "process",
+ "regulation of cellular process phenotype",
+ "leukocyte morphology phenotype",
+ "regulation of biological process",
"subdivision of skeletal system phenotype",
- "long bone morphology phenotype",
- "paired limb/fin skeleton",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "Aplastic anemia",
- "face",
- "anatomical entity length phenotype",
- "appendage girdle complex",
- "zeugopod phenotype",
- "regulation of cellular process",
- "vertebral column",
- "Abnormal forearm morphology",
- "absent anatomical structure",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased size of the mesoderm-derived structure",
- "programmed DNA elimination",
- "system",
- "decreased length of endochondral element",
- "Short finger",
- "anatomical conduit atresia",
- "Abnormality of the genitourinary system",
- "Small for gestational age",
- "quality",
- "Upper limb undergrowth",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "trunk",
- "hematopoietic system phenotype",
- "size of anatomical entity phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "subdivision of head",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "Malignant neoplasm of the central nervous system",
- "incomplete closing of the cardiac septum",
- "Abnormality of globe location",
- "anatomical entity morphology in the heart phenotype",
- "digit 1 or 5",
- "forelimb",
- "forelimb zeugopod skeleton",
- "renal system morphology phenotype",
- "Limb undergrowth",
- "manual digit plus metapodial segment",
- "limb bone morphology phenotype",
- "pectoral appendage phenotype",
- "circulatory organ",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
- "increased length of the epicanthal fold",
- "decreased length of limb endochondral element",
- "increased pigmentation in skin of body",
- "decreased size of the organism subdivision",
- "Phenotypic abnormality",
- "forelimb long bone",
- "arm",
- "skeleton of limb phenotype",
- "cardiac ventricle",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "cell",
- "Abnormal leukocyte count",
- "appendage phenotype",
- "digit plus metapodial segment",
- "Neuroectodermal neoplasm",
- "decreased length of endochondral bone",
- "increased length of the skin of head",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "camera-type eye",
- "All",
- "increased length of the zone of skin",
- "anatomical structure atresia",
- "skeletal system",
- "Embryonal renal neoplasm",
- "cardiac ventricle morphology phenotype",
- "skeletal element",
- "multi organ part structure phenotype",
- "cardiac septum phenotype",
- "appendicular skeleton phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "anatomical system",
- "forelimb endochondral element",
- "endochondral element",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule metabolic process phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of gene expression",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "peptide",
+ "Abnormal cellular physiology",
+ "erythrocyte",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "organooxygen compound",
+ "organic molecular entity",
+ "negative regulation of metabolic process",
+ "role bodily fluid level phenotype",
+ "polypeptide",
+ "regulation of metabolic process",
+ "bodily fluid phenotype",
+ "role blood level phenotype",
+ "Growth delay",
+ "amino acid chain",
+ "skull",
+ "regulation of cellular biosynthetic process phenotype",
+ "anterior region of body",
+ "homeostatic process",
+ "erythroid lineage cell morphology phenotype",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "nervous system phenotype",
+ "brain phenotype",
+ "chemical entity",
+ "central nervous system phenotype",
+ "negative regulation of macromolecule biosynthetic process",
+ "bodily fluid",
+ "protein-containing molecular entity",
+ "polyatomic entity",
+ "granulocyte",
+ "negative regulation of metabolic process phenotype",
+ "increased level of chemical entity",
+ "carbon group molecular entity",
+ "bone cell",
"number of anatomical enitites of type anatomical entity phenotype",
- "zone of skin",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "decreased length of multicellular anatomical structure",
- "decreased size of the bone element",
- "absent abdominal segment element",
- "endochondral bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased size of the limb bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "metabolic process",
+ "material entity",
+ "Abnormal circulating protein concentration",
+ "organochalcogen compound",
+ "Abnormality of the musculoskeletal system",
+ "Abnormal cellular immune system morphology",
+ "carboxamide",
+ "multicellular organism",
+ "oxygen molecular entity",
+ "Abnormal skeletal morphology",
+ "Abnormal circulating metabolite concentration",
+ "organism substance phenotype",
+ "axial skeletal system",
+ "phenotypic effect",
+ "amide",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "nitrogen molecular entity level phenotype",
+ "skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "organism substance",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "pnictogen molecular entity",
+ "negative regulation of biosynthetic process",
+ "alpha-fetoprotein",
+ "Abnormality of metabolism/homeostasis",
+ "blood phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "blood organic amino compound level phenotype",
+ "organonitrogen compound",
+ "blood alpha-fetoprotein level phenotype",
"anatomical structure",
- "increased size of the anatomical line",
- "myeloid lineage restricted progenitor cell",
- "absent compound organ",
- "skull phenotype",
- "negative regulation of cellular metabolic process",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "orifice",
- "anterior region of body",
- "hematopoietic lineage restricted progenitor cell",
- "cranial skeletal system",
- "Microphthalmia",
- "central nervous system",
- "absent kidney",
- "forelimb morphology phenotype",
- "anatomical entity phenotype",
+ "blood oxygen molecular entity level phenotype",
+ "protein polypeptide chain",
+ "erythroid lineage cell",
+ "haemolymphatic fluid phenotype",
+ "decreased height of the anatomical entity",
+ "regulation of metabolic process phenotype",
+ "bone marrow cell",
+ "heteroorganic entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "alpha-fetoprotein level phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "homeostatic process phenotype",
+ "bone element",
"musculoskeletal system",
- "limb segment",
+ "bone marrow",
+ "organ system subdivision",
+ "Abnormal platelet morphology",
+ "immune system morphology phenotype",
"organ",
- "skeleton of pectoral complex",
- "musculature of body phenotype",
- "increased length of the anatomical line between pupils",
- "decreased anatomical structure mass",
- "Abnormality of the skeletal system",
- "closing of the ectoderm-derived structure",
- "Abnormal limb bone morphology",
- "forelimb long bone phenotype",
- "nervous system morphology phenotype",
- "Abnormal forearm bone morphology",
- "radius bone morphology phenotype",
- "digitopodium region",
- "decreased size of the forelimb zeugopod bone",
- "interatrial septum",
- "nervous system",
- "absent anatomical structure in the renal system",
- "regulation of cellular metabolic process phenotype",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "absent trunk region element",
- "decreased length of mesoderm-derived structure",
+ "tissue",
+ "Phenotypic abnormality",
+ "Abnormality of blood and blood-forming tissues",
+ "telencephalon",
+ "regulation of cellular process",
+ "platelet phenotype",
+ "Abnormal circulating alpha-fetoprotein concentration",
+ "immune system",
+ "anatomical entity morphology phenotype",
+ "blood nitrogen molecular entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "serotonin secreting cell",
+ "obsolete protein-containing material entity",
+ "cellular process",
+ "Abnormal immune system morphology",
+ "decreased number of leukocyte",
+ "multi-tissue structure phenotype",
+ "decreased number of neutrophil",
+ "Elevated circulating alpha-fetoprotein concentration",
+ "oxygen accumulating cell",
+ "Abnormality of the immune system",
+ "number of hematopoietic cell phenotype",
+ "anatomical entity phenotype",
"regulation of macromolecule biosynthetic process",
- "Abnormal renal morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "biological_process rate phenotype",
- "limb long bone morphology phenotype",
- "decreased size of the endochondral element",
- "Short long bone",
- "musculature phenotype",
- "camera-type eye morphology phenotype",
- "decreased length of material anatomical entity",
- "digestive system",
- "localised compound organ",
+ "decreased number of cell",
+ "biological_process phenotype",
+ "myeloid leukocyte",
+ "hemolymphoid system",
+ "regional part of brain phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "haemolymphatic fluid",
+ "cranial skeletal system phenotype",
+ "size of anatomical entity phenotype",
+ "blood",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "platelet",
+ "Neutropenia",
+ "cell phenotype",
+ "neutrophil",
+ "continuant",
+ "Abnormality of thrombocytes",
+ "organism subdivision phenotype",
+ "All",
+ "blood protein polypeptide chain level phenotype",
+ "secretory cell",
+ "macromolecule",
+ "biogenic amine secreting cell",
+ "multicellular anatomical structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "forebrain morphology phenotype",
+ "number of cell phenotype",
+ "anucleate cell",
+ "Abnormality of neutrophils",
+ "cellular organisms",
+ "molecular entity",
+ "multicellular organism height phenotype",
+ "Abnormal myeloid leukocyte morphology",
+ "Abnormal neutrophil count",
+ "main group molecular entity",
+ "postcranial axial skeletal system",
+ "nitrogen molecular entity",
+ "Abnormal axial skeleton morphology",
+ "anatomical system",
+ "Abnormal leukocyte count",
+ "anatomical entity height phenotype",
+ "decreased number of anatomical entity",
+ "aplasia or hypoplasia of telencephalon",
+ "material anatomical entity",
+ "regulation of gene expression phenotype",
+ "craniofacial/craniocervical phenotype",
+ "decreased number of anatomical structure",
+ "blood cell",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased number of platelet",
+ "anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "skeletal system",
+ "decreased number of hematopoietic cell",
+ "Abnormal platelet count",
+ "blood chemical entity level phenotype",
+ "hematopoietic system",
+ "skeletal system phenotype",
+ "regulation of biosynthetic process",
+ "Abnormal granulocyte morphology",
+ "hematopoietic cell",
+ "regional part of nervous system phenotype",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "programmed DNA elimination",
+ "entity",
+ "motile cell",
+ "granulocyte morphology phenotype",
+ "Chromosome breakage",
+ "disconnected anatomical group",
+ "regulation of biological process phenotype",
+ "number of myeloid cell phenotype",
+ "non-connected functional system",
+ "regulation of macromolecule metabolic process",
+ "number of platelet phenotype",
+ "negative regulation of cellular process",
+ "primary amide",
+ "Abnormal bone marrow cell morphology",
+ "subdivision of organism along main body axis phenotype",
+ "myeloid leukocyte phenotype",
+ "regulation of biosynthetic process phenotype",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "Abnormal leukocyte morphology",
+ "neutrophil phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "eukaryotic cell",
+ "Thrombocytopenia",
+ "immune system phenotype",
+ "nucleate cell",
+ "Abnormal granulocyte count",
+ "protein",
+ "decreased number of granulocyte",
+ "size of multicellular organism phenotype",
+ "erythrocyte morphology phenotype",
+ "obsolete cell",
+ "decreased number of material anatomical entity",
+ "multicellular organism chemical entity level phenotype",
+ "cell",
+ "phenotype",
+ "leukocyte",
+ "organic amino compound",
+ "taxon specific phenotype",
+ "Bone marrow hypocellularity",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "occurrent",
+ "increased level of alpha-fetoprotein",
+ "blood cell phenotype"
+ ],
+ "has_phenotype_count": 8,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0014987",
+ "category": "biolink:Disease",
+ "name": "Fanconi anemia complementation group U",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.",
+ "xref": [
+ "DOID:0111085",
+ "GARD:16215",
+ "MEDGEN:934618",
+ "OMIM:617247",
+ "UMLS:C4310651"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "FANCU",
+ "Fanconi Anemia, complementation group U",
+ "Fanconi Anemia, complementation group type U",
+ "Fanconi anaemia caused by mutation in XRCC2",
+ "Fanconi anaemia complementation group type U",
+ "Fanconi anemia caused by mutation in XRCC2",
+ "Fanconi anemia complementation group type U",
+ "Fanconi anemia, complementation GROUP U",
+ "XRCC2 Fanconi anaemia",
+ "XRCC2 Fanconi anemia"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": [
+ "HP:0003974",
+ "HP:0002984",
+ "HP:0001510",
+ "HP:0001643",
+ "HP:0009777",
+ "HP:0040012",
+ "HP:0012799",
+ "HP:0010035",
+ "HP:0011835",
+ "HP:0000086",
+ "HP:0000252"
+ ],
+ "has_phenotype_label": [
+ "Absent radius",
+ "Hypoplasia of the radius",
+ "Growth delay",
+ "Patent ductus arteriosus",
+ "Absent thumb",
+ "Chromosome breakage",
+ "Unilateral facial palsy",
+ "Aplasia of the 1st metacarpal",
+ "Absent scaphoid",
+ "Ectopic kidney",
+ "Microcephaly"
+ ],
+ "has_phenotype_closure": [
+ "UPHENO:0004704",
+ "HP:0002977",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "HP:0040195",
+ "UPHENO:0003001",
+ "UBERON:0000481",
+ "HP:0000929",
+ "HP:0000252",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0011137",
+ "NCBITaxon:33208",
+ "NCBITaxon:2759",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0002736",
+ "UPHENO:0075220",
+ "NCBITaxon:6072",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "UBERON:0000955",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0005944",
+ "UBERON:0002090",
+ "UBERON:0000073",
+ "UPHENO:0087518",
+ "UPHENO:0076791",
+ "UBERON:0004121",
+ "NCBITaxon:33154",
+ "UPHENO:0003004",
+ "UPHENO:0053643",
+ "UBERON:0001008",
+ "HP:0100542",
+ "UPHENO:0053601",
+ "UPHENO:0053580",
+ "UBERON:0000489",
+ "UBERON:0005173",
+ "HP:0000077",
+ "UPHENO:0002803",
+ "UPHENO:3000004",
+ "HP:0000079",
+ "UPHENO:0003093",
+ "UBERON:0005172",
+ "HP:0012443",
+ "UPHENO:0053619",
+ "UPHENO:0053612",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "HP:0010935",
+ "HP:0000086",
+ "UPHENO:0002642",
+ "HP:0004231",
+ "UPHENO:0026144",
+ "UPHENO:0087496",
+ "UPHENO:0053588",
+ "UPHENO:0002858",
+ "UPHENO:0002619",
+ "UPHENO:0079870",
+ "UBERON:0000982",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UPHENO:0008744",
+ "UPHENO:0025811",
+ "UPHENO:0003010",
+ "UPHENO:0000543",
+ "UPHENO:0002973",
+ "UPHENO:0009335",
+ "UPHENO:0002961",
+ "UPHENO:0002723",
+ "UPHENO:0002673",
+ "UPHENO:0009330",
+ "UBERON:0010959",
+ "HP:0003019",
+ "HP:0006502",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0009288",
+ "UBERON:0004461",
+ "UBERON:0003656",
+ "UPHENO:0003094",
+ "UBERON:0015078",
+ "UPHENO:0002733",
+ "UPHENO:0003015",
+ "UPHENO:0004909",
+ "UPHENO:0026045",
+ "UPHENO:0002835",
+ "HP:0001367",
+ "UPHENO:0002613",
+ "UPHENO:0004312",
+ "UBERON:0015023",
+ "UBERON:0010546",
+ "UPHENO:0084458",
+ "UPHENO:0081515",
+ "UPHENO:0050126",
+ "HP:0009823",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "UPHENO:0002638",
+ "HP:0003026",
+ "UPHENO:0002832",
+ "UBERON:0009880",
+ "HP:0009658",
+ "UPHENO:0033560",
+ "UPHENO:0002881",
+ "UPHENO:0002548",
+ "UPHENO:0026127",
+ "UPHENO:0075195",
+ "UPHENO:0026076",
+ "UPHENO:0025520",
+ "UPHENO:0009303",
+ "UBERON:0003645",
+ "UBERON:0004302",
+ "UBERON:0009877",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UPHENO:0046397",
+ "UBERON:0001480",
+ "UPHENO:0009363",
+ "UPHENO:0080160",
+ "GO:0050794",
+ "UPHENO:0009400",
+ "UPHENO:0027061",
+ "HP:0005914",
+ "UPHENO:0025230",
+ "UBERON:0014892",
+ "UPHENO:0080168",
+ "UPHENO:0026715",
+ "UBERON:0004249",
+ "UPHENO:0002845",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UPHENO:0026717",
+ "HP:0005918",
+ "UPHENO:0026330",
+ "UPHENO:0076702",
+ "HP:0009834",
+ "UBERON:0012151",
+ "UPHENO:0081455",
+ "HP:0009825",
+ "UPHENO:0025118",
+ "UBERON:0003821",
+ "UBERON:0015043",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0080164",
+ "UBERON:0013581",
+ "UPHENO:0002632",
+ "UPHENO:0081521",
+ "UPHENO:0003698",
+ "UPHENO:0009310",
+ "UPHENO:0084447",
+ "UPHENO:0002601",
+ "UBERON:0018254",
+ "UPHENO:0087369",
+ "UPHENO:0002759",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0005206",
+ "UPHENO:0081700",
+ "HP:0009767",
+ "UPHENO:0002910",
+ "HP:0000152",
+ "UPHENO:0003697",
+ "UBERON:0001577",
+ "UBERON:0003620",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0076710",
+ "UPHENO:0004492",
+ "UPHENO:0002905",
+ "UPHENO:0003081",
+ "HP:0000234",
+ "HP:0030680",
+ "UPHENO:0009338",
+ "UPHENO:0002928",
+ "HP:0010628",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0001191",
+ "GO:0065007",
+ "UPHENO:0025452",
+ "HP:0010827",
+ "UPHENO:0080173",
+ "HP:0011805",
+ "UPHENO:0002386",
+ "UBERON:0013700",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UBERON:0000010",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UPHENO:0078730",
+ "HP:0010242",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "UPHENO:0002612",
+ "HP:0030962",
+ "GO:0010468",
+ "HP:0006824",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "UPHENO:0002897",
+ "UPHENO:0003047",
+ "UPHENO:0002764",
+ "UBERON:0004473",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "UPHENO:0068838",
+ "UBERON:0001456",
+ "UPHENO:0008668",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UPHENO:0002385",
+ "UPHENO:0002562",
+ "UBERON:0000033",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "UBERON:0015025",
+ "HP:0030319",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UPHENO:0002643",
+ "UPHENO:0025342",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UPHENO:0008743",
+ "UPHENO:0025456",
+ "UPHENO:0086172",
+ "UPHENO:0033602",
+ "GO:0060255",
+ "UPHENO:0003066",
+ "GO:0009892",
+ "UBERON:0002234",
+ "HP:0011017",
+ "UPHENO:0026756",
+ "UPHENO:0080083",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0002570",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0049775",
+ "UPHENO:0009383",
+ "UPHENO:0049757",
+ "UBERON:0000465",
+ "HP:0000271",
+ "GO:0010629",
+ "UPHENO:0025103",
+ "UPHENO:0049904",
+ "UPHENO:0027058",
+ "GO:0019222",
+ "UPHENO:0026181",
+ "UPHENO:0026314",
+ "HP:0009659",
+ "GO:0048519",
+ "UPHENO:0050778",
+ "HP:0007364",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "HP:0009601",
+ "UBERON:0001890",
+ "UPHENO:0046403",
+ "UBERON:0012141",
+ "UBERON:0001647",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "UPHENO:0002782",
+ "UPHENO:0069030",
+ "UPHENO:0002708",
+ "UBERON:0019221",
+ "HP:0010048",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UPHENO:0012274",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UPHENO:0087006",
+ "UBERON:0019231",
+ "UBERON:5102389",
+ "UBERON:5002544",
+ "UPHENO:0009382",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0005985",
+ "UBERON:0002398",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "HP:0009121",
+ "UPHENO:0046540",
+ "UPHENO:0025556",
+ "UPHENO:0076805",
+ "UPHENO:0009326",
+ "UBERON:0002513",
+ "UPHENO:0002908",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0011695",
+ "UBERON:5006048",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0000467",
+ "UPHENO:0026650",
+ "UPHENO:0009430",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001172",
+ "HP:0009777",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UBERON:0000055",
+ "UBERON:0003103",
+ "HP:0025015",
+ "UPHENO:0002704",
+ "UPHENO:0087309",
+ "GO:0009889",
+ "UPHENO:0084761",
+ "UPHENO:0002869",
+ "HP:0011603",
+ "UBERON:0018674",
+ "UPHENO:0005116",
+ "UBERON:0001637",
+ "UBERON:0005440",
+ "UBERON:0034923",
+ "UPHENO:0076810",
+ "UPHENO:0001002",
+ "UPHENO:0002898",
+ "HP:0002597",
+ "UPHENO:0003031",
+ "UBERON:0003607",
+ "UBERON:0012357",
+ "UPHENO:0002954",
+ "UPHENO:0004469",
+ "UPHENO:0004831",
+ "UPHENO:0018390",
+ "UPHENO:0033603",
+ "UPHENO:0002640",
+ "UPHENO:0002576",
+ "UPHENO:0002754",
+ "UPHENO:0033593",
+ "UPHENO:0026806",
+ "UPHENO:0026073",
+ "UPHENO:0068921",
+ "UPHENO:0015277",
+ "UBERON:0010740",
+ "UPHENO:0033573",
+ "UPHENO:0080126",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UBERON:0014395",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "UBERON:0013702",
+ "UPHENO:0011533",
+ "UPHENO:0002950",
+ "UBERON:0017750",
+ "UPHENO:0025587",
+ "UBERON:0012150",
+ "UPHENO:0033590",
+ "UBERON:0010314",
+ "HP:0040070",
+ "UBERON:0002376",
+ "UPHENO:0003025",
+ "UPHENO:0002634",
+ "HP:0002818",
+ "UPHENO:0033580",
+ "UPHENO:0002696",
+ "UPHENO:0075655",
+ "UPHENO:0033568",
+ "UPHENO:0087186",
+ "UPHENO:0025651",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "UPHENO:0003084",
+ "UBERON:0004537",
+ "UPHENO:0002963",
+ "UBERON:0011779",
+ "UBERON:0003509",
+ "UPHENO:0002917",
+ "UPHENO:0002320",
+ "UBERON:0000075",
+ "UBERON:0013768",
+ "UPHENO:0025782",
+ "UBERON:0004535",
+ "UPHENO:0025547",
+ "UBERON:0003498",
+ "UPHENO:0046531",
+ "UPHENO:0003086",
+ "UPHENO:0026163",
+ "UBERON:0006048",
+ "UBERON:0007798",
+ "UPHENO:9002003",
+ "UPHENO:0086633",
+ "UPHENO:0033598",
+ "UPHENO:0033579",
+ "HP:0012210",
+ "HP:0011804",
+ "UBERON:0004573",
+ "UPHENO:0025593",
+ "UBERON:0004453",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0003019",
+ "UBERON:0009569",
+ "UBERON:0004288",
+ "UPHENO:0004507",
+ "UPHENO:0025166",
+ "UPHENO:0002738",
+ "UBERON:0015001",
+ "UPHENO:0003050",
+ "UBERON:0004111",
+ "UPHENO:0049587",
+ "UPHENO:0002938",
+ "UBERON:0000948",
+ "UPHENO:0002844",
+ "UPHENO:0087334",
+ "UPHENO:0000541",
+ "UPHENO:0004345",
+ "UPHENO:0049874",
+ "UBERON:0015024",
+ "UPHENO:0068932",
+ "UPHENO:0069328",
+ "UPHENO:0009291",
+ "HP:0009810",
+ "UPHENO:0046552",
+ "UPHENO:0009302",
+ "UPHENO:0009304",
+ "UPHENO:0026312",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0001507",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0002804",
+ "UPHENO:0069194",
+ "HP:0009824",
+ "NCBITaxon:131567",
+ "UPHENO:0002637",
+ "UPHENO:0026970",
+ "UBERON:0015061",
+ "UPHENO:0033584",
+ "HP:0003011",
+ "UPHENO:0025135",
+ "UPHENO:0068971",
+ "UPHENO:0026095",
+ "UPHENO:0003415",
+ "UPHENO:0004405",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "UPHENO:0002554",
+ "HP:0010035",
+ "UBERON:0000153",
+ "UPHENO:0069163",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0004710",
+ "HP:0002984",
+ "UPHENO:0003022",
+ "UPHENO:0086635",
+ "UPHENO:0069292",
+ "GO:0008150",
+ "UBERON:0004716",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005178",
+ "UPHENO:0003088",
+ "UBERON:0001981",
+ "UPHENO:0046405",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0046396",
+ "GO:0031052",
+ "HP:0001324",
+ "UPHENO:0069327",
+ "UPHENO:0025546",
+ "UPHENO:0002964",
+ "UPHENO:0069047",
+ "UBERON:0003606",
+ "UPHENO:0046505",
+ "UPHENO:0003065",
+ "UBERON:0001427",
+ "UBERON:0013630",
+ "UPHENO:0009399",
+ "UPHENO:0049868",
+ "UPHENO:0002719",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0026813",
+ "UPHENO:0015331",
+ "UPHENO:0025647",
+ "UPHENO:0026146",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "UPHENO:0004827",
+ "UPHENO:0069064",
+ "UPHENO:0076767",
+ "UPHENO:0081511",
+ "UBERON:0015410",
+ "UBERON:0004765",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0025441",
+ "UBERON:0002049",
+ "HP:0003220",
+ "UBERON:0007100",
+ "UBERON:0006716",
+ "UPHENO:0025585",
+ "UPHENO:0009386",
+ "UPHENO:0046483",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0081524",
+ "UPHENO:0005134",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UPHENO:0015308",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "UPHENO:0087018",
+ "HP:0002817",
+ "UPHENO:0009010",
+ "UPHENO:0008475",
+ "UPHENO:0075944",
+ "UPHENO:0009337",
+ "HP:0000001",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UBERON:0002374",
+ "UBERON:0015228",
+ "UPHENO:0015324",
+ "UPHENO:0026317",
+ "UPHENO:0002593",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0026098",
+ "UPHENO:0002916",
+ "UBERON:0001423",
+ "UPHENO:0026273",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0002902",
+ "UBERON:0011584",
+ "UPHENO:0001001",
+ "UPHENO:0046472",
+ "UBERON:0011582",
+ "UBERON:0006876",
+ "UPHENO:0002976",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0025883",
+ "UPHENO:0002648",
+ "BFO:0000001",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "HP:0005916",
+ "UPHENO:0002945",
+ "UPHENO:0025176",
+ "HP:0001939",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UPHENO:0008709",
+ "UBERON:0001009",
+ "UPHENO:0080555",
+ "UBERON:0000915",
+ "UPHENO:0012312",
+ "UPHENO:0026640",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UBERON:0015049",
+ "UBERON:0001033",
+ "HP:0002973",
+ "UBERON:0010543",
+ "UPHENO:0004142",
+ "UPHENO:0081451",
+ "UPHENO:0025961",
+ "UPHENO:0046554",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "HP:0009115",
+ "UPHENO:0002590",
+ "UPHENO:0002526",
+ "HP:0001643",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0080187",
+ "UPHENO:0011573",
+ "UBERON:0000026",
+ "UPHENO:0027014",
+ "UPHENO:0025845",
+ "UPHENO:0009391",
+ "UBERON:0012140",
+ "UBERON:0011249",
+ "UBERON:0001785",
+ "UPHENO:0076754",
+ "UPHENO:0086589",
+ "UPHENO:0046460",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0002781",
+ "UPHENO:0009367",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0053566",
+ "HP:0000301",
+ "UPHENO:0002751",
+ "HP:0006501",
+ "UPHENO:0003227",
+ "UBERON:0010708",
+ "UPHENO:0015281",
+ "UPHENO:0025508",
+ "UPHENO:0046455",
+ "UPHENO:0002659",
+ "UPHENO:0002752",
+ "UBERON:0010323",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0009295",
+ "UPHENO:0079876",
+ "UBERON:0002075",
+ "HP:0011314",
+ "UBERON:0010741",
+ "UPHENO:0076729",
+ "UBERON:0010363",
+ "UPHENO:0003012",
+ "UPHENO:0002969",
+ "UPHENO:0002530",
+ "UPHENO:0025652",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0076755",
+ "UPHENO:0011498",
+ "UPHENO:0002568",
+ "UPHENO:0002433",
+ "HP:0006496",
+ "UPHENO:0002750",
+ "UPHENO:0087510",
+ "UPHENO:0026097",
+ "UBERON:0003834",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0026808",
+ "HP:0009822",
+ "UPHENO:0025607",
+ "UPHENO:0033599",
+ "UBERON:0003221",
+ "UBERON:0001474",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "HP:0000924",
+ "UBERON:0009878",
+ "HP:0009851",
+ "UBERON:0002495",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "UPHENO:0026972",
+ "HP:0010009",
+ "UPHENO:0025788",
+ "UPHENO:0008865",
+ "UPHENO:0080325",
+ "HP:0009802",
+ "UPHENO:0002652",
+ "RO:0002577",
+ "UPHENO:0026183",
+ "UPHENO:0011492",
+ "UBERON:0013701",
+ "UPHENO:0080200",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0003799",
+ "HP:0033127",
+ "UPHENO:0046484",
+ "UPHENO:0027017",
+ "HP:0009815",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026329",
+ "UPHENO:0009115",
+ "HP:0011297",
+ "UPHENO:0033609",
+ "UPHENO:0087501",
+ "UPHENO:0026811",
+ "UPHENO:0009163",
+ "BFO:0000002",
+ "UPHENO:0002896",
+ "UPHENO:0025852",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0002899",
+ "UPHENO:0025882",
+ "UBERON:0006058",
+ "HP:0005922",
+ "UPHENO:0011563",
+ "UPHENO:0025527",
+ "UBERON:0003129",
+ "UPHENO:0003095",
+ "BFO:0000003",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0046445",
+ "UPHENO:0050063",
+ "UBERON:0001434",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0053561",
+ "UBERON:0001015",
+ "GO:0042592",
+ "UBERON:0004381",
+ "HP:0033353",
+ "UPHENO:0003005",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0025645",
+ "UPHENO:0003082",
+ "UPHENO:0003413",
+ "HP:0003953",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UPHENO:0086797",
+ "UPHENO:0008703",
+ "UPHENO:0076718",
+ "UPHENO:0012308",
+ "HP:0009821",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "HP:0002011",
+ "HP:0000119",
+ "UPHENO:0004173",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0009366",
+ "UPHENO:0046392",
+ "UBERON:0000477",
+ "UPHENO:0076703",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0004145",
+ "UBERON:0004708",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UBERON:0004572",
+ "UBERON:0010000",
+ "UPHENO:0011531",
+ "UPHENO:0025544",
+ "UPHENO:0050007",
+ "UBERON:0008785",
+ "HP:0003974",
+ "UPHENO:0004457",
+ "UBERON:0002428",
+ "UBERON:0007272",
+ "UPHENO:0005092",
+ "UBERON:0010538",
+ "UBERON:0002386",
+ "UPHENO:0003069",
+ "UPHENO:0002641",
+ "UPHENO:0002586",
+ "UBERON:0004571",
+ "UBERON:0003466",
+ "UPHENO:0025553",
+ "HP:0011835",
+ "UBERON:0001062",
+ "UPHENO:0088186",
+ "UBERON:0010703",
+ "UPHENO:0079872",
+ "GO:0031049",
+ "UPHENO:0026010",
+ "UBERON:0008229",
+ "UBERON:0012475",
+ "UBERON:0001436",
+ "UPHENO:0002926",
+ "UPHENO:0080191",
+ "UPHENO:0002731",
+ "HP:0006265",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0002559",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0033581",
+ "UPHENO:0011568",
+ "UPHENO:0025509",
+ "UBERON:0000475",
+ "UPHENO:0002668",
+ "HP:0012799",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UPHENO:0069125",
+ "UBERON:0011216",
+ "UPHENO:0011572",
+ "UBERON:0034713",
+ "UBERON:0010758",
+ "UPHENO:0009209",
+ "UPHENO:0005214",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0002983",
+ "UBERON:0010688",
+ "UPHENO:0002604",
+ "UPHENO:0068839",
+ "UPHENO:0002536",
+ "UPHENO:0076692",
+ "UPHENO:0002880",
+ "UBERON:0004452",
+ "UPHENO:0046465",
+ "UBERON:0003513",
+ "UPHENO:0003432",
+ "UPHENO:0025808",
+ "UBERON:0010544",
+ "UPHENO:0004595",
+ "UBERON:0001435",
+ "UPHENO:0002717",
+ "UPHENO:0002949",
+ "UPHENO:0002967",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002756",
+ "HP:0010026",
+ "UPHENO:0076776",
+ "UPHENO:0009356",
+ "UPHENO:0081204",
+ "UPHENO:0025497",
+ "UPHENO:0076765",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0046479",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "GO:0040007",
+ "UPHENO:0025855",
+ "HP:0001510",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0002816",
+ "UBERON:0015042"
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "regional part of nervous system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "axial skeleton plus cranial skeleton",
"postcranial axial skeleton",
- "organ system subdivision",
- "bone of dorsum phenotype",
- "viscus",
- "aplasia or hypoplasia of manual digit",
- "decreased size of the bone of pectoral complex",
- "blood cell phenotype",
- "simple eye phenotype",
- "anatomical entity hypoplasia",
- "decreased size of the limb endochondral element",
+ "aplasia or hypoplasia of telencephalon",
"multi-tissue structure phenotype",
- "limb morphology phenotype",
+ "Abnormal cerebral morphology",
+ "multi-tissue structure",
+ "cellular organisms",
+ "nervous system morphology phenotype",
+ "size of skull phenotype",
+ "Opisthokonta",
+ "Abnormality of skull size",
+ "skull phenotype",
+ "Abnormal brain morphology",
+ "root",
+ "skull morphology phenotype",
+ "regional part of brain phenotype",
+ "brain morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Eumetazoa",
+ "head morphology phenotype",
+ "cranial skeletal system",
+ "axial skeletal system",
+ "ectoderm-derived structure",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
"forebrain phenotype",
- "Abnormality of the upper limb",
- "multicellular organism morphology phenotype",
- "decreased length of long bone",
- "bone element phenotype",
+ "localised trunk region element",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
+ "Abnormality of the upper urinary tract",
+ "abdominal segment of trunk",
+ "localised lateral structure",
+ "Abnormal localization of kidney",
+ "upper urinary tract",
+ "kidney morphology phenotype",
+ "Abnormal skull morphology",
+ "Abnormality of the urinary system",
+ "Abnormality of the genitourinary system",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "Ectopic kidney",
+ "renal system phenotype",
+ "renal system",
+ "excretory system",
+ "Abnormal 1st metacarpal morphology",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "localised kidney",
+ "Aplasia involving bones of the upper limbs",
+ "abdominal segment element",
+ "localised abdomen element",
+ "abdomen element phenotype",
+ "carpal bone phenotype",
+ "absent forelimb endochondral element in the forelimb",
+ "absent carpus endochondral element",
+ "absent carpus endochondral element in the limb",
+ "absent manus bone in the metacarpus region",
+ "limb",
+ "proximal carpal bone",
"decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "number of anatomical enitites of type organ phenotype",
- "cervical vertebra endochondral element phenotype",
- "trunk region element",
- "Abnormality of the integument",
- "incomplete closing of the material anatomical entity",
- "phenotype",
- "pectoral complex",
- "septum phenotype",
- "radius endochondral element",
- "Atrial septal defect",
- "decreased size of the multicellular anatomical structure",
- "Decreased head circumference",
- "material anatomical entity",
- "appendicular skeletal system",
- "long bone",
- "lateral structure",
- "closing of the anatomical structure",
- "phenotypic effect",
- "decreased length of bone of appendage girdle complex",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "digestive system phenotype",
- "vertebra",
- "decreased length of forelimb bone",
+ "forelimb",
+ "circulatory organ phenotype",
+ "articulation phenotype",
+ "absent mesopodium bone in the limb",
+ "proximal carpal endochondral element phenotype",
+ "Aplasia/Hypoplasia involving the carpal bones",
+ "articulation",
+ "carpal region phenotype",
+ "mesopodial skeleton",
+ "localised cavitated compound organ",
+ "radiale phenotype",
+ "carpal region",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "Abnormality of the musculoskeletal system",
+ "skeletal joint phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "carpal bone morphology phenotype",
+ "Abnormality of the cardiovascular system",
+ "carpal skeleton",
+ "proximal carpal bone phenotype",
+ "manus bone",
+ "absent proximal carpal endochondral element",
+ "skeletal joint",
+ "proximal mesopodial bone",
+ "mesopodium bone",
+ "paired limb/fin phenotype",
"decreased length of organ",
- "myeloblast",
- "aplasia or hypoplasia of telencephalon",
+ "renal/urinary system phenotype",
+ "Abnormal muscle physiology",
+ "proximal carpal endochondral element",
+ "proximal mesopodial endochondral element phenotype",
+ "Abnormal joint morphology",
+ "Absent scaphoid",
+ "skeletal muscle organ, vertebrate",
"aplasia or hypoplasia of radius bone",
- "decreased length of forelimb zeugopod bone",
- "Macule",
- "programmed DNA elimination by chromosome breakage",
- "heart morphology phenotype",
- "thoracic cavity element phenotype",
- "number of hematopoietic cell phenotype",
- "agenesis of anatomical entity",
- "forelimb zeugopod bone morphology phenotype",
- "integument phenotype",
- "musculature",
- "absent manual digit",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
+ "vasculature phenotype",
+ "Aplasia of the 1st metacarpal",
+ "metacarpal bone phenotype",
+ "cavitated compound organ",
+ "mesopodium region phenotype",
+ "absent forelimb long bone in the metacarpus region",
+ "aplasia or hypoplasia of manual digit 1 phalanx",
+ "proximal phalanx",
+ "proximal phalanx of manus",
+ "absent anatomical structure in the metacarpus region",
+ "absent forelimb endochondral element in the metacarpus region",
+ "Abnormality of the wrist",
+ "metacarpal bone morphology phenotype",
+ "phalanx",
+ "manual digitopodium bone",
+ "metapodium region",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "absent autopod bone in the limb",
+ "anatomical entity morphology in the skeleton of manus phenotype",
+ "manual digit 1 metacarpus endochondral element phenotype",
+ "carpal bone",
+ "absent bone of free limb or fin in the metacarpus region",
+ "brain",
+ "absent manus bone",
+ "phalanx phenotype",
+ "absent autopod endochondral element in the limb",
+ "Partial absence of thumb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "Aplasia of metacarpal bones",
+ "phalanx endochondral element",
+ "ectoderm-derived structure phenotype",
+ "metapodial skeleton",
+ "acropodial skeleton",
"limb segment phenotype",
- "upper limb segment",
- "nervous system phenotype",
- "limb phenotype",
- "negative regulation of metabolic process phenotype",
- "abdomen element",
- "Abnormal appendicular skeleton morphology",
- "taxon specific phenotype",
- "forelimb phenotype",
- "multicellular organism",
- "decreased size of the skeletal element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "Medulloblastoma",
- "hematopoietic system",
- "Abnormality of head or neck",
- "forelimb skeleton",
- "anatomical entity morphology phenotype",
- "bone of pectoral complex phenotype",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
+ "absent limb bone in the metacarpus region",
+ "absent limb endochondral element in the metacarpus region",
+ "manual digit bone",
+ "metacarpus region",
+ "autopod endochondral element",
"forelimb bone",
- "shape of continuant phenotype",
- "subdivision of skeleton",
- "independent continuant",
- "Abnormal upper limb bone morphology",
- "increased size of the organ part",
- "anatomical collection",
- "septum",
- "Abnormal cardiac septum morphology",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "Eukaryota",
- "anatomical system phenotype",
- "cardiac atrium",
- "absent material anatomical entity in the limb",
- "digestive tract",
- "skeleton of limb",
- "radius bone hypoplasia",
- "multicellular anatomical structure",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "segment of manus",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "upper limb segment phenotype",
- "negative regulation of biosynthetic process",
- "vertebral element",
- "absent autopodial extension",
- "upper eyelid",
- "specifically dependent continuant",
- "Epicanthus",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "incomplete closing of the anatomical structure",
- "Abnormality of the head",
- "aplasia or hypoplasia of skeleton",
- "arm bone",
- "occurrent",
- "multi-limb segment region",
- "musculature of body",
- "pectoral appendage",
- "bone element",
- "skin of face",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
+ "metacarpus skeleton",
+ "metacarpus skeleton phenotype",
+ "mesopodial skeleton phenotype",
+ "manual digit metacarpus endochondral element phenotype",
+ "nerve",
+ "aplastic manual digit 1 phalanx",
+ "absent bone of appendage girdle complex in the metacarpus region",
+ "multi organ part structure phenotype",
+ "aplastic phalanx of manus",
+ "absent autopod bone",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "absent metapodium bone",
+ "artery morphology phenotype",
+ "Aplasia/Hypoplasia involving the metacarpal bones",
+ "manual digit 1 phalanx phenotype",
+ "aplastic carpal bone",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "absent manual digit metacarpus endochondral element in the metacarpus region",
+ "absent manual digit metacarpus endochondral element",
+ "aplasia or hypoplasia of metacarpal bone of digit 1",
+ "digitopodium bone",
+ "autopodial extension",
+ "radiale",
+ "manual digit 1 phalanx endochondral element",
+ "digit 1 or 5 phenotype",
+ "metacarpal bone",
+ "phalanx of manus phenotype",
+ "forebrain",
+ "absent mesoderm-derived structure in the metacarpus region",
+ "subdivision of head",
+ "cell phenotype",
+ "metapodial skeleton phenotype",
+ "Abnormality of facial musculature",
+ "Abnormality of the nervous system",
+ "decreased size of the bone of pectoral complex",
+ "absent endochondral bone in the metacarpus region",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "cranial muscle phenotype",
+ "aplasia or hypoplasia of proximal phalanx of manus",
+ "craniocervical muscle",
+ "absent forelimb bone in the metacarpus region",
+ "phalanx of manus",
+ "nerve of head region",
+ "anatomical structure physiology phenotype",
+ "Weakness of facial musculature",
+ "Muscle weakness",
+ "anatomical system",
+ "head",
+ "nervous system",
+ "metacarpal bone of digit 1 morphology phenotype",
"organism subdivision phenotype",
+ "skeletal musculature phenotype",
+ "nervous system physiology phenotype",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "absent forelimb bone",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
"anatomical entity morphology in the appendage girdle complex phenotype",
- "mesoderm-derived structure",
- "upper urinary tract phenotype",
- "excretory system",
- "paired limb/fin segment",
- "cardiac chamber",
- "Growth abnormality",
- "skeletal system phenotype",
- "limb",
- "Abnormal eyelid morphology",
+ "carpal skeleton phenotype",
+ "facial nerve",
+ "axial musculature",
+ "manus bone phenotype",
+ "localised anatomical entity",
+ "craniocervical muscle phenotype",
+ "Abnormality of limb bone",
+ "muscle organ physiology phenotype",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "cranial or facial muscle",
"manual digit phenotype",
- "decreased length of anatomical entity",
- "Abnormal skeletal morphology",
- "decreased number of anatomical structure",
- "paired limb/fin phenotype",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "Abnormal digit morphology",
- "thoracic segment organ",
- "Renal agenesis",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "nucleate cell",
- "zeugopodial skeleton",
- "limb bone phenotype",
- "heart",
+ "skeletal musculature",
+ "muscle organ morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "absent carpal bone in the limb",
+ "cranial or facial muscle phenotype",
"pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "cardiac septum",
- "heart plus pericardium",
- "non-connected functional system",
- "viscus phenotype",
- "segment of autopod",
- "primary circulatory organ phenotype",
+ "skeletal musculature of head",
+ "phalanx morphology phenotype",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "decreased muscle organ strength",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "genitourinary system",
+ "Abnormality of facial soft tissue",
+ "incomplete closing of the anatomical structure",
+ "delayed growth",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "upper limb segment",
+ "nerve phenotype",
+ "forelimb morphology phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "absent multicellular anatomical structure in the metacarpus region",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "multi organ part structure",
+ "metabolic process",
+ "absent radiale",
+ "Aplasia/Hypoplasia of the 1st metacarpal",
+ "absent manual digitopodium bone",
+ "regulation of metabolic process phenotype",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Unilateral facial palsy",
+ "Abnormality of thumb phalanx",
"negative regulation of macromolecule biosynthetic process",
- "dorsal region element phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "absent trunk region element in the multicellular organism",
- "regulation of cellular metabolic process",
- "Abnormal cardiovascular system morphology",
- "cardiac atrium phenotype",
- "Absent thumb",
- "cardiovascular system morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "anatomical structure morphology in the heart phenotype",
- "cardiovascular system phenotype",
- "granulocytopoietic cell",
- "structure with developmental contribution from neural crest phenotype",
- "decreased size of the endochondral bone",
- "circulatory organ phenotype",
- "cervical vertebra",
- "paired limb/fin segment phenotype",
- "compound organ",
- "subdivision of organism along main body axis",
- "decreased size of the forelimb bone",
- "main body axis",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "absent multicellular anatomical structure in the forelimb",
- "bone of appendage girdle complex phenotype",
- "material anatomical entity morphology in the heart phenotype",
- "neck phenotype",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "structure with developmental contribution from neural crest",
- "absent anatomical structure in the limb",
- "Abnormality of the ocular adnexa",
- "orbital region phenotype",
- "Neoplasm of the central nervous system",
- "organ part phenotype",
- "subdivision of organism along main body axis phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
"subdivision of trunk phenotype",
- "Irregular hyperpigmentation",
- "circulatory system",
- "opening of the anatomical entity",
- "cardiac atrium morphology phenotype",
- "Decreased body weight",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormal cellular physiology",
+ "regulation of cellular metabolic process phenotype",
+ "skeletal system phenotype",
+ "absent metacarpal bone",
"thoracic segment organ phenotype",
- "biological_process",
- "cardiac chamber phenotype",
- "trunk phenotype",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "regional part of brain",
- "digit phenotype",
- "anus phenotype",
- "autopodial extension phenotype",
- "decreased size of the ectoderm-derived structure",
- "Abnormal thumb morphology",
- "Aplasia/Hypoplasia of fingers",
- "localised lateral structure",
- "decreased length of manual digit 1 or 5",
- "Abnormal leukocyte morphology",
- "absent anatomical structure in the multicellular organism",
- "head or neck skin",
- "digit 1 phenotype",
- "number of cell phenotype",
- "limb bone",
- "camera-type eye phenotype",
- "negative regulation of cellular process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "decreased length of digit 1",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Abnormal morphology of the radius",
+ "vessel",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "absent proximal carpal bone",
+ "regulation of gene expression phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "Abnormality of metabolism/homeostasis",
+ "absent bone of pectoral complex",
+ "cranial muscle",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "absent carpal bone",
+ "paralysed anatomical entity",
"manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
+ "manual digit 1 morphology phenotype",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "Finger aplasia",
+ "peripheral nervous system phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
"manus",
- "Abnormality of metabolism/homeostasis",
- "Abnormal hand morphology",
- "eukaryotic cell",
- "integument",
+ "autopod bone phenotype",
+ "manual digit 1",
+ "All",
"skeleton of manus",
- "limb endochondral element phenotype",
+ "Abnormality of head or neck",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "Aplasia/Hypoplasia of the proximal phalanges of the hand",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Facial palsy",
+ "manual digitopodium region",
+ "decreased size of the bone element",
+ "Absent thumb",
+ "absent organism subdivision",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "metacarpal bone of digit 1",
+ "individual digit of digitopodial skeleton",
+ "skeleton of manual digitopodium",
+ "short bone phenotype",
+ "autopod region phenotype",
+ "manus phenotype",
+ "manual digit bone phenotype",
+ "incomplete closing of the vessel",
+ "incomplete closing of the ductus arteriosus",
+ "digit phenotype",
+ "metacarpal bone of digit 1 phenotype",
+ "Abnormal hand morphology",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "digit plus metapodial segment",
+ "autopod region",
+ "aplastic manual digit 1",
+ "absent manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "systemic arterial system",
+ "telencephalon morphology phenotype",
+ "incomplete closing of the arterial blood vessel",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "negative regulation of metabolic process",
+ "arm bone",
+ "Congenital malformation of the great arteries",
+ "incomplete closing of the thoracic segment blood vessel",
+ "absent metapodium bone in the metacarpus region",
+ "localised organ",
+ "structure with developmental contribution from neural crest phenotype",
+ "manus morphology phenotype",
+ "opening of the anatomical entity",
+ "arterial blood vessel phenotype",
+ "primary circulatory organ phenotype",
+ "trunk",
+ "craniocervical region phenotype",
+ "absent bone element in the metacarpus region",
+ "blood vessel morphology phenotype",
+ "manual digitopodium bone phenotype",
+ "thoracic segment of trunk",
+ "vascular system morphology phenotype",
+ "mesopodium region",
+ "absent radius endochondral element in the forelimb",
+ "incomplete closing of the coronary vessel",
+ "manual digit 1 or 5",
+ "organ physiology phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "metapodium bone phenotype",
+ "manual digit plus metapodial segment",
+ "conceptus",
+ "incomplete closing of the multicellular anatomical structure",
+ "absent material anatomical entity in the metacarpus region",
+ "forelimb zeugopod phenotype",
+ "trunk blood vessel phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "autopodial extension phenotype",
+ "Abnormal cardiovascular system morphology",
+ "thoracic segment blood vessel",
+ "ductus arteriosus",
+ "decreased length of anatomical structure",
+ "material anatomical entity",
+ "blood vessel",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "musculature phenotype",
+ "coronary vessel",
+ "outflow tract",
+ "decreased length of forelimb zeugopod bone",
+ "heart",
+ "decreased length of forelimb endochondral element",
+ "incomplete closing of the artery",
+ "Abnormal vascular morphology",
+ "manual digit",
+ "viscus phenotype",
+ "anatomical entity length phenotype",
+ "incomplete closing of the anatomical conduit",
+ "regulation of macromolecule metabolic process phenotype",
+ "trunk phenotype",
+ "vasculature of trunk",
+ "radius bone morphology phenotype",
+ "absent proximal mesopodial endochondral element",
+ "absent anatomical structure in the forelimb",
+ "trunk blood vessel",
+ "skeletal element",
+ "arterial blood vessel",
+ "Abnormality of the upper limb",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "heart phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "anatomical structure morphology in the heart phenotype",
+ "anatomical cluster phenotype",
+ "Abnormal seventh cranial physiology",
+ "systemic artery phenotype",
+ "vascular system",
+ "paired limb/fin skeleton",
+ "viscus",
+ "absent long bone in the metacarpus region",
+ "compound organ phenotype",
+ "great vessel of heart morphology phenotype",
+ "circulatory system",
+ "skeletal muscle organ, vertebrate phenotype",
+ "Abnormal forebrain morphology",
+ "body proper",
+ "musculature of body phenotype",
+ "limb skeleton subdivision phenotype",
+ "bone of free limb or fin phenotype",
+ "musculature of body",
+ "vessel phenotype",
+ "decreased length of limb endochondral element",
+ "vasculature of organ",
+ "biological_process phenotype",
+ "autopod bone",
+ "Abnormal forearm bone morphology",
+ "anatomical conduit",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "circulatory system phenotype",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "musculature",
+ "incomplete closing of the systemic artery",
+ "negative regulation of gene expression",
+ "absent skeletal element",
+ "incomplete closing of the material anatomical entity",
+ "central nervous system",
"digit morphology phenotype",
- "anatomical entity atresia",
- "autopod region",
- "myeloid cell",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "Short digit",
+ "Eukaryota",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "absent skeletal element in the forelimb",
"autopod region morphology phenotype",
- "interventricular septum",
- "skull",
- "Neoplasm of the nervous system",
- "Short thumb",
- "Abnormality of the hand",
- "Abnormality of limbs",
- "incomplete closing of the interatrial septum",
- "aplasia or hypoplasia of manual digit 1",
- "size of eyeball of camera-type eye phenotype",
- "sensory system phenotype",
- "manus phenotype",
- "decreased length of digit",
- "decreased length of manual digit",
- "Acute myeloid leukemia",
- "anus",
- "Ventricular septal defect",
- "decreased length of autopodial extension",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "upper urinary tract",
- "decreased length of digit 1 or 5",
- "absent multicellular anatomical structure",
- "immaterial anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "absent organism subdivision",
- "Ectopic kidney",
- "abdominal segment of trunk",
- "cervical vertebra phenotype",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "number of anatomical enitites of type lateral structure phenotype",
- "cavitated compound organ",
- "immaterial anatomical entity phenotype",
- "Abnormality of the upper urinary tract",
- "eyeball of camera-type eye",
- "genitourinary system phenotype",
- "decreased size of the sense organ",
- "biogenic amine secreting cell",
- "interatrial septum morphology phenotype",
- "cavitated compound organ phenotype",
- "neck bone",
- "localised cavitated compound organ",
- "forelimb zeugopod bone",
- "localised kidney",
+ "trunk region element",
+ "anatomical cluster",
+ "Abnormal finger phalanx morphology",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "carpus endochondral element",
+ "absent digitopodium bone",
"regulation of cellular process phenotype",
- "Pelvic kidney",
- "localised abdominal segment element",
- "autopod region phenotype",
- "renal/urinary system phenotype",
- "appendicular skeleton",
- "Abnormal eye morphology",
- "localised anatomical structure",
- "number of anatomical enitites of type organism subdivision phenotype",
- "tube phenotype",
- "Leukemia",
- "localised abdomen element",
- "head phenotype",
- "anatomical entity",
- "primary circulatory organ",
- "localised organ",
- "incomplete closing of the anatomical entity",
- "kidney phenotype",
- "kidney",
- "abdominal segment element phenotype",
- "localised anatomical entity",
- "Abnormal localization of kidney",
- "genitourinary system",
- "simple eye",
- "bone marrow cell",
- "vision/eye phenotype",
+ "systemic artery",
"Abnormality of the kidney",
- "Urinary tract neoplasm",
- "decreased length of forelimb endochondral element",
- "Renal neoplasm",
- "vertebral column phenotype",
- "Embryonal neoplasm",
- "pectoral appendage skeleton",
- "Nephroblastoma",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "aplastic manual digit 1",
- "absent material anatomical entity in the multicellular organism",
- "absent material anatomical entity in the forelimb",
- "increased length of the head or neck skin",
- "metabolic process",
- "absent anatomical entity in the multicellular organism",
- "absent digit",
- "bone of dorsum",
- "aplastic anatomical entity",
- "neck",
- "Abnormality of the orbital region",
- "Abnormal ocular adnexa morphology",
- "localised trunk region element",
- "digit",
- "head",
- "visual system phenotype",
- "immune system phenotype",
- "head morphology phenotype",
- "eye",
- "face phenotype",
- "number of anatomical enitites of type trunk region element phenotype",
- "decreased length of organism subdivision",
- "craniocervical region",
- "disconnected anatomical group",
- "decreased size of the bone of appendage girdle complex",
+ "biological_process",
+ "growth",
+ "aplastic metacarpal bone of digit 1",
+ "segment of manus",
+ "Growth delay",
+ "decreased size of the limb endochondral element",
+ "Growth abnormality",
+ "limb endochondral element",
+ "Abnormal blood vessel morphology",
+ "limb bone phenotype",
+ "decreased size of the limb bone",
+ "Aplasia involving bones of the extremities",
"subdivision of trunk",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "eye phenotype",
- "increased length of the non-material anatomical boundary",
- "sensory system",
- "Aplasia/Hypoplasia affecting the eye",
- "orbital region",
- "skin of body",
- "number of platelet phenotype",
- "Abnormality of globe size",
- "material anatomical entity atresia",
- "trunk or cervical vertebra phenotype",
- "Abnormality of the eye",
- "vertebra phenotype",
- "absent anatomical structure in the forelimb",
- "craniocervical region morphology phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "visual system",
- "decreased size of the manual digit",
- "continuant",
- "Abnormality of the face",
- "decreased size of the eyeball of camera-type eye",
- "immaterial entity",
- "entire sense organ system",
- "sense organ",
- "Acute leukemia",
- "Abnormal cellular immune system morphology",
- "Hematological neoplasm",
- "interventricular septum morphology phenotype",
- "immune system",
- "Cafe-au-lait spot",
- "neck bone phenotype",
- "hematopoietic precursor cell",
+ "cardiovascular system phenotype",
+ "proximal mesopodial endochondral element",
+ "short bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "aplasia or hypoplasia of carpal bone",
+ "absent limb endochondral element in the forelimb",
+ "multi cell part structure phenotype",
+ "decreased size of the arm bone",
+ "incomplete closing of the trunk blood vessel",
+ "decreased size of the bone of free limb or fin",
+ "vasculature of organ phenotype",
+ "anterior region of body",
+ "decreased size of the bone of appendage girdle complex",
+ "Abnormality of the vasculature",
+ "abdominal segment element phenotype",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "decreased length of endochondral bone",
+ "upper urinary tract phenotype",
+ "ductus arteriosus morphology phenotype",
+ "decreased size of the forelimb endochondral element",
+ "Limb undergrowth",
+ "decreased length of skeletal element",
+ "Aplasia/Hypoplasia of the phalanges of the hand",
+ "skeleton of digitopodium",
+ "anatomical system physiology phenotype",
+ "decreased length of mesoderm-derived structure",
+ "decreased length of multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "heart vasculature",
+ "decreased size of the multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "size of anatomical entity phenotype",
+ "Short long bone",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "Decreased head circumference",
+ "decreased size of the organ",
+ "regulation of biological process",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "absent autopod endochondral element",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "decreased length of endochondral element",
+ "neuron projection bundle phenotype",
+ "anatomical conduit phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "radius bone phenotype",
+ "decreased length of bone of appendage girdle complex",
+ "limb segment",
+ "biological regulation",
+ "manual digit 1 plus metapodial segment",
+ "process",
+ "decreased size of the forelimb bone",
+ "organism subdivision",
+ "pectoral appendage",
+ "absent endochondral element in the metacarpus region",
+ "Abnormal limb bone morphology",
+ "arm",
+ "cranial nerve phenotype",
+ "central nervous system morphology phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "blood vasculature",
+ "incomplete closing of the heart blood vessel",
+ "face phenotype",
+ "Hypoplasia of the radius",
+ "absent multicellular anatomical structure in the limb",
+ "anatomical structure",
+ "coronary vessel morphology phenotype",
+ "circulatory organ",
+ "heart blood vessel",
+ "delayed biological_process",
+ "absent endochondral bone in the limb",
+ "aplastic anatomical entity",
+ "cavitated compound organ phenotype",
+ "articular system",
+ "absent short bone in the limb",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Aplasia/hypoplasia of the extremities",
+ "skeleton of manual acropodium",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "decreased size of the long bone",
+ "Absent forearm bone",
+ "artery phenotype",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "Abnormal carpal morphology",
+ "appendicular skeleton phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "manual digit phalanx endochondral element phenotype",
+ "Phenotypic abnormality",
+ "absent anatomical entity in the metacarpus region",
+ "bone of pectoral complex morphology phenotype",
+ "proximal mesopodial bone phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "bone of pectoral complex phenotype",
+ "absent anatomical structure",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "Patent ductus arteriosus",
+ "heart morphology phenotype",
+ "metapodium bone",
+ "decreased length of arm bone",
+ "zeugopod",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "cranial nerve",
+ "bone element",
+ "forelimb zeugopod morphology phenotype",
"material entity",
- "leukocyte",
- "digit 1",
- "progenitor cell",
- "anatomical collection phenotype",
- "Abnormal immune system morphology",
- "leukocyte morphology phenotype",
- "craniofacial/craniocervical phenotype",
- "Decreased anatomical entity mass",
+ "regulation of macromolecule biosynthetic process",
+ "great vessel of heart",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "phalanx endochondral element phenotype",
+ "skeletal system",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "primary circulatory organ",
+ "absent anatomical entity in the limb",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent material anatomical entity in the multicellular organism",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "manual digit digitopodial skeleton",
+ "thoracic cavity element",
+ "blood vessel phenotype",
+ "absent organ",
+ "absent limb endochondral element in the limb",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "digitopodium bone phenotype",
+ "absent forelimb long bone",
+ "decreased length of forelimb bone",
+ "absent short bone",
+ "Abnormal proximal phalanx morphology of the hand",
+ "Aplasia of the proximal phalanges of the hand",
+ "forelimb phenotype",
+ "absent bone element in the forelimb",
+ "absent long bone in the forelimb",
+ "trunk region element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "kidney phenotype",
+ "localised abdominal segment element",
+ "skeletal element phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "absent mesopodium bone",
+ "multicellular organism phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "absent autopodial extension",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "arm bone phenotype",
+ "cardiovascular system morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "thoracic cavity element phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "absent material anatomical entity",
+ "absent skeletal element in the limb",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "mesoderm-derived structure phenotype",
+ "absent anatomical entity",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "central nervous system phenotype",
+ "mesopodium bone phenotype",
+ "limb long bone",
+ "anatomical entity morphology phenotype",
+ "absent organ in the metacarpus region",
+ "craniocervical region musculature",
+ "manual digit metacarpus endochondral element",
"decreased size of the material anatomical entity in the pectoral complex",
- "kidney morphology phenotype",
- "immune system morphology phenotype",
- "cell phenotype",
- "hematopoietic cell",
- "decreased size of the digit",
- "motile cell",
- "precursor cell",
- "absent cavitated compound organ in the renal system",
- "hemolymphoid system",
- "Abnormal cellular phenotype",
- "multicellular organism mass phenotype",
- "absent anatomical entity in the forelimb",
- "Abnormality of body weight",
+ "system",
+ "absent bone of free limb or fin in the limb",
+ "outflow tract phenotype",
+ "limb phenotype",
+ "aplasia or hypoplasia of metacarpal bone",
+ "number of anatomical enitites of type bone element phenotype",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
+ "Aplasia/Hypoplasia of the phalanges of the thumb",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormal long bone morphology",
+ "Abnormal metacarpal morphology",
+ "absent autopod endochondral element in the metacarpus region",
+ "absent bone of appendage girdle complex in the limb",
+ "Aplasia/hypoplasia involving the skeleton",
+ "nervous system phenotype",
+ "forelimb endochondral element",
+ "absent manual digitopodium bone in the metacarpus region",
+ "homeostatic process phenotype",
+ "absent material anatomical entity in the limb",
+ "thoracic segment organ",
+ "continuant",
+ "agenesis of anatomical entity",
+ "absent bone element",
+ "vasculature",
+ "limb morphology phenotype",
+ "phenotypic effect",
+ "embryonic cardiovascular system",
+ "absent organ in the forelimb",
+ "limb bone",
+ "anatomical entity morphology in the pectoral complex phenotype",
"number of anatomical enitites of type multicellular anatomical structure phenotype",
- "multicellular anatomical structure mass phenotype",
- "anatomical entity mass phenotype",
- "decreased material anatomical entity mass",
- "subdivision of organism along appendicular axis phenotype",
+ "growth phenotype",
+ "forelimb zeugopod bone phenotype",
+ "manual digit 1 metacarpus endochondral element",
+ "absent radius endochondral element",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "arm phenotype",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "absent forelimb bone in the limb",
+ "occurrent",
+ "absent digitopodium bone in the metacarpus region",
+ "absent anatomical entity in the skeletal system",
+ "metapodium bone 1",
+ "absent autopod bone in the metacarpus region",
+ "artery",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "absent bone of free limb or fin",
+ "absent endochondral bone",
+ "gustatory system",
+ "Abnormal skeletal muscle morphology",
+ "radius bone hypoplasia",
+ "decreased length of anatomical entity",
+ "absent bone of pectoral complex in the metacarpus region",
+ "paired limb/fin skeleton phenotype",
+ "forelimb zeugopod",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent bone of pectoral complex in the limb",
+ "craniofacial/craniocervical phenotype",
+ "Abnormality of upper limb joint",
+ "absent limb bone",
+ "absent bone of pectoral complex in the forelimb",
+ "absent manus bone in the limb",
+ "long bone",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "absent endochondral element in the forelimb",
+ "anatomical entity",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "arterial system",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "Carpal bone aplasia",
+ "upper limb segment phenotype",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "forelimb bone phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
"entity",
- "growth",
- "Neoplasm of the genitourinary tract",
- "decreased multicellular anatomical structure mass",
- "anatomical structure mass phenotype",
- "pigmentation",
- "Decreased multicellular organism mass",
- "body proper",
- "material anatomical entity mass phenotype",
- "Short forearm",
- "growth phenotype"
+ "radius endochondral element",
+ "paired limb/fin segment phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "incomplete closing of the anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "anatomical structure phenotype",
+ "endochondral element",
+ "appendage phenotype",
+ "manual digit 1 phalanx endochondral element phenotype",
+ "skeleton phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "skeletal joint morphology in the pectoral complex phenotype",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "absent forelimb endochondral element in the limb",
+ "absent multicellular anatomical structure in the forelimb",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "Abnormal skeletal morphology",
+ "absent limb long bone in the metacarpus region",
+ "Absent radius",
+ "anatomical entity phenotype",
+ "appendicular skeletal system",
+ "carpus endochondral element phenotype",
+ "radius bone",
+ "localised compound organ",
+ "absent arm bone in the forelimb",
+ "organ",
+ "pectoral appendage phenotype",
+ "Abnormal nervous system morphology",
+ "incomplete closing of the mesoderm-derived structure",
+ "skull",
+ "taxon specific phenotype",
+ "aplasia or hypoplasia of phalanx of manus",
+ "absent forelimb zeugopod bone",
+ "musculature of face",
+ "facial nerve phenotype",
+ "decreased size of the endochondral element",
+ "Abnormality of the musculature",
+ "anatomical entity hypoplasia",
+ "absent radius bone",
+ "musculoskeletal system",
+ "forelimb long bone",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "musculoskeletal system phenotype",
+ "muscle structure",
+ "anatomical entity morphology in the heart phenotype",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "Abnormal forearm morphology",
+ "decreased size of the skeletal element",
+ "forelimb skeleton phenotype",
+ "skeleton of limb phenotype",
+ "Metazoa",
+ "absent proximal mesopodial bone",
+ "anatomical collection",
+ "absent skeletal element in the metacarpus region",
+ "systemic artery morphology phenotype",
+ "absent endochondral element in the limb",
+ "Aplasia involving forearm bones",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent forelimb bone in the forelimb",
+ "main body axis",
+ "peripheral nervous system",
+ "absent anatomical structure in the multicellular organism",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "mesoderm-derived structure",
+ "bone of appendage girdle complex phenotype",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "multicellular anatomical structure",
+ "segment of autopod",
+ "forelimb skeleton",
+ "limb long bone phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "decreased anatomical entity strength",
+ "vasculature of trunk phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "Abnormal cellular phenotype",
+ "decreased length of bone of free limb or fin",
+ "decreased length of long bone",
+ "endochondral element phenotype",
+ "subdivision of skeletal system phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "gustatory system phenotype",
+ "absent limb long bone in the forelimb",
+ "metapodium bone 1 phenotype",
+ "anatomical system phenotype",
+ "absent forelimb endochondral element",
+ "Aplasia of the phalanges of the hand",
+ "absent multicellular anatomical structure"
],
- "has_phenotype_count": 25,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
}
diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json
index e0860a339..b779b2642 100644
--- a/frontend/fixtures/histopheno.json
+++ b/frontend/fixtures/histopheno.json
@@ -3,22 +3,22 @@
"items": [
{
"label": "musculature",
- "count": 2057,
+ "count": 2035,
"id": "UPHENO:0002816"
},
{
"label": "nervous_system",
- "count": 1113,
+ "count": 1042,
"id": "UPHENO:0004523"
},
{
"label": "head_neck",
- "count": 595,
+ "count": 594,
"id": "UPHENO:0002764"
},
{
"label": "skeletal_system",
- "count": 508,
+ "count": 500,
"id": "UPHENO:0002964"
},
{
@@ -28,12 +28,12 @@
},
{
"label": "metabolism_homeostasis",
- "count": 225,
+ "count": 222,
"id": "HP:0001939"
},
{
"label": "blood",
- "count": 183,
+ "count": 180,
"id": "UPHENO:0004459"
},
{
@@ -48,7 +48,7 @@
},
{
"label": "digestive_system",
- "count": 153,
+ "count": 147,
"id": "UPHENO:0002833"
},
{
@@ -58,7 +58,7 @@
},
{
"label": "genitourinary_system",
- "count": 49,
+ "count": 47,
"id": "UPHENO:0002642"
},
{
@@ -68,22 +68,22 @@
},
{
"label": "immune_system",
- "count": 28,
+ "count": 27,
"id": "UPHENO:0002948"
},
- {
- "label": "ear",
- "count": 26,
- "id": "HP:0000598"
- },
{
"label": "endocrine",
"count": 25,
"id": "UPHENO:0003116"
},
+ {
+ "label": "ear",
+ "count": 21,
+ "id": "HP:0000598"
+ },
{
"label": "prenatal_or_birth",
- "count": 22,
+ "count": 21,
"id": "UPHENO:0075949"
},
{
diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json
index 4d01200d3..5eb77cbd5 100644
--- a/frontend/fixtures/mappings.json
+++ b/frontend/fixtures/mappings.json
@@ -10,7 +10,7 @@
"object_id": "DOID:9884",
"object_label": "muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "ce156a1f-3e0f-4ffa-939f-14f63a0c16fb"
+ "id": "8455f67d-5d08-4a66-8e5f-c427b2d7938c"
},
{
"subject_id": "MONDO:0020121",
@@ -19,7 +19,7 @@
"object_id": "ICD10CM:G71.0",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "6cc20a75-671a-4495-9c2f-10278696cf96"
+ "id": "9e54ec61-241e-40ae-a0c2-8fa2b8d6064d"
},
{
"subject_id": "MONDO:0020121",
@@ -28,7 +28,7 @@
"object_id": "MEDGEN:44527",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "dbccfe32-a6aa-44a1-8b01-122c4415b2d1"
+ "id": "f5197cb5-7664-4237-bb93-2dc62b9202dd"
},
{
"subject_id": "MONDO:0020121",
@@ -37,7 +37,7 @@
"object_id": "NCIT:C84910",
"object_label": "Muscular Dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "044c7473-5200-46b0-9882-ab151ddb7375"
+ "id": "269439d9-e4ad-4a20-9700-79b0e335332a"
},
{
"subject_id": "MONDO:0020121",
@@ -46,7 +46,7 @@
"object_id": "Orphanet:98473",
"object_label": "Muscular dystrophy",
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "898cbadf-be13-40db-8691-25d61ee4c1da"
+ "id": "f05769c9-054b-46bd-8c86-c48a909dfd20"
},
{
"subject_id": "MONDO:0020121",
@@ -55,7 +55,7 @@
"object_id": "SCTID:73297009",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "da0a14f4-8938-43f2-85b8-c2c4f3c34d25"
+ "id": "522fe0bd-7b20-4e6c-85e1-9e0ff0a1f841"
},
{
"subject_id": "MONDO:0020121",
@@ -64,7 +64,7 @@
"object_id": "UMLS:C0026850",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "2fd2bfe8-92de-442c-90d1-ea1b6bad89c4"
+ "id": "419450c7-7cec-412d-a438-00cbdc979ab1"
},
{
"subject_id": "MONDO:0020121",
@@ -73,7 +73,7 @@
"object_id": "icd11.foundation:1464662404",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "528e3222-47ef-4753-8322-e7c7534ee984"
+ "id": "0c5a4465-68aa-4287-8df6-af0407bf201c"
},
{
"subject_id": "MONDO:0020121",
@@ -82,7 +82,7 @@
"object_id": "MESH:D009136",
"object_label": null,
"mapping_justification": "semapv:UnspecifiedMatching",
- "id": "b202ada7-9025-4f54-af8a-e99c008e51cf"
+ "id": "91fac932-a84a-4a63-8b95-8555d2b7993a"
}
]
}
diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json
index 771879754..119a071e1 100644
--- a/frontend/fixtures/node.json
+++ b/frontend/fixtures/node.json
@@ -140,9 +140,14 @@
"association_counts": [
{
"label": "Disease to Phenotype",
- "count": 4082,
+ "count": 4077,
"category": "biolink:DiseaseToPhenotypicFeatureAssociation"
},
+ {
+ "label": "Gene to Phenotype",
+ "count": 6350,
+ "category": "biolink:GeneToPhenotypicFeatureAssociation"
+ },
{
"label": "Causal Gene",
"count": 125,
@@ -160,8 +165,13 @@
},
{
"label": "Disease Model",
- "count": 238,
+ "count": 239,
"category": "biolink:GenotypeToDiseaseAssociation"
+ },
+ {
+ "label": "Medical Action",
+ "count": 4,
+ "category": "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation"
}
],
"node_hierarchy": {
@@ -234,6 +244,28 @@
}
],
"sub_classes": [
+ {
+ "id": "MONDO:0100228",
+ "category": "biolink:Disease",
+ "name": "LAMA2-related muscular dystrophy",
+ "full_name": null,
+ "deprecated": null,
+ "description": null,
+ "xref": null,
+ "provided_by": null,
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": null,
+ "uri": null,
+ "iri": null,
+ "namespace": null,
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": null
+ },
{
"id": "MONDO:0008028",
"category": "biolink:Disease",
@@ -475,28 +507,6 @@
"has_phenotype_closure": null,
"has_phenotype_closure_label": null,
"has_phenotype_count": null
- },
- {
- "id": "MONDO:0100228",
- "category": "biolink:Disease",
- "name": "LAMA2-related muscular dystrophy",
- "full_name": null,
- "deprecated": null,
- "description": null,
- "xref": null,
- "provided_by": null,
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": null,
- "uri": null,
- "iri": null,
- "namespace": null,
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": null
}
]
}
diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json
index d03eecc00..a000d4738 100644
--- a/frontend/fixtures/phenotype-explorer-compare.json
+++ b/frontend/fixtures/phenotype-explorer-compare.json
@@ -1,12 +1,12 @@
{
"subject_termset": {
- "MP:0002169": {
- "id": "MP:0002169",
- "label": "no abnormal phenotype detected"
- },
"MP:0010771": {
"id": "MP:0010771",
"label": "integument phenotype"
+ },
+ "MP:0002169": {
+ "id": "MP:0002169",
+ "label": "no abnormal phenotype detected"
}
},
"object_termset": {
diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json
index 4d5f63e28..99b25b230 100644
--- a/frontend/fixtures/phenotype-explorer-multi-compare.json
+++ b/frontend/fixtures/phenotype-explorer-multi-compare.json
@@ -22,7 +22,7 @@
"has_phenotype_closure_label": null,
"has_phenotype_count": null
},
- "score": 8.608834726850041,
+ "score": 8.60883472685004,
"similarity": {
"subject_termset": {
"HP:0002020": {
@@ -30,42 +30,42 @@
"label": "Gastroesophageal reflux"
},
"HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
- "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
"HP:0001533": { "id": "HP:0001533", "label": "Slender build" },
+ "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" },
"HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" },
+ "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
"HP:0004944": {
"id": "HP:0004944",
"label": "Dilatation of the cerebral artery"
- },
- "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }
+ }
},
"object_termset": {
- "MP:0011965": {
- "id": "MP:0011965",
- "label": "decreased total retina thickness"
- },
"MP:0008489": {
"id": "MP:0008489",
"label": "slow postnatal weight gain"
},
- "MP:0011962": {
- "id": "MP:0011962",
- "label": "increased cornea thickness"
- },
"MP:0003731": {
"id": "MP:0003731",
"label": "abnormal retina outer nuclear layer morphology"
},
+ "MP:0011960": {
+ "id": "MP:0011960",
+ "label": "abnormal eye anterior chamber depth"
+ },
"MP:0003291": {
"id": "MP:0003291",
"label": "interstinal hyperperistalsis"
},
+ "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" },
"MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
- "MP:0011960": {
- "id": "MP:0011960",
- "label": "abnormal eye anterior chamber depth"
+ "MP:0011962": {
+ "id": "MP:0011962",
+ "label": "increased cornea thickness"
},
- "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }
+ "MP:0011965": {
+ "id": "MP:0011965",
+ "label": "decreased total retina thickness"
+ }
},
"subject_best_matches": {
"HP:0001533": {
@@ -99,8 +99,8 @@
"HP:0001763": {
"match_source": "HP:0001763",
"match_source_label": "Pes planus",
- "match_target": "MP:0011962",
- "match_target_label": "increased cornea thickness",
+ "match_target": "MP:0002834",
+ "match_target_label": "decreased heart weight",
"score": 3.066606173373863,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -108,7 +108,7 @@
"subject_id": "HP:0001763",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0011962",
+ "object_id": "MP:0002834",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0015280",
@@ -117,10 +117,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 3.066606173373863,
- "jaccard_similarity": 0.16049382716049382,
+ "jaccard_similarity": 0.203125,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 0.7015492578278222
+ "phenodigm_score": 0.7892429150563
},
"score_metric": "ancestor_information_content"
},
@@ -211,8 +211,8 @@
"HP:0010749": {
"match_source": "HP:0010749",
"match_source_label": "Blepharochalasis",
- "match_target": "MP:0011960",
- "match_target_label": "abnormal eye anterior chamber depth",
+ "match_target": "MP:0003731",
+ "match_target_label": "abnormal retina outer nuclear layer morphology",
"score": 6.6792078240173165,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -220,7 +220,7 @@
"subject_id": "HP:0010749",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0011960",
+ "object_id": "MP:0003731",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0087924",
@@ -229,10 +229,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 6.6792078240173165,
- "jaccard_similarity": 0.26865671641791045,
+ "jaccard_similarity": 0.23076923076923078,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.3395574053669028
+ "phenodigm_score": 1.2415134520802842
},
"score_metric": "ancestor_information_content"
},
@@ -309,8 +309,8 @@
"object_id": "HP:0001533",
"object_label": null,
"object_source": null,
- "ancestor_id": "UPHENO:0054261",
- "ancestor_label": "decreased anatomical entity mass",
+ "ancestor_id": "UPHENO:0082761",
+ "ancestor_label": "Decreased anatomical entity mass",
"ancestor_source": null,
"object_information_content": null,
"subject_information_content": null,
@@ -491,7 +491,7 @@
"score_metric": "ancestor_information_content"
}
},
- "average_score": 8.608834726850041,
+ "average_score": 8.60883472685004,
"best_score": 13.667892510789482,
"metric": "AncestorInformationContent"
}
@@ -522,50 +522,46 @@
"score": 7.343905449061465,
"similarity": {
"subject_termset": {
+ "HP:0004944": {
+ "id": "HP:0004944",
+ "label": "Dilatation of the cerebral artery"
+ },
"HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" },
+ "HP:0001533": { "id": "HP:0001533", "label": "Slender build" },
+ "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" },
"HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" },
- "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" },
"HP:0002020": {
"id": "HP:0002020",
"label": "Gastroesophageal reflux"
},
- "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" },
- "HP:0001533": { "id": "HP:0001533", "label": "Slender build" },
- "HP:0004944": {
- "id": "HP:0004944",
- "label": "Dilatation of the cerebral artery"
- }
+ "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }
},
"object_termset": {
+ "MP:0009862": {
+ "id": "MP:0009862",
+ "label": "abnormal aorta elastic tissue morphology"
+ },
"MP:0003026": {
"id": "MP:0003026",
"label": "decreased vasoconstriction"
},
- "MP:0004022": {
- "id": "MP:0004022",
- "label": "abnormal cone electrophysiology"
- },
"MP:0006264": {
"id": "MP:0006264",
"label": "decreased systemic arterial systolic blood pressure"
},
+ "MP:0000272": {
+ "id": "MP:0000272",
+ "label": "abnormal aorta morphology"
+ },
"MP:0004021": {
"id": "MP:0004021",
"label": "abnormal rod electrophysiology"
},
- "MP:0009862": {
- "id": "MP:0009862",
- "label": "abnormal aorta elastic tissue morphology"
+ "MP:0004022": {
+ "id": "MP:0004022",
+ "label": "abnormal cone electrophysiology"
},
"MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" },
- "MP:0003070": {
- "id": "MP:0003070",
- "label": "increased vascular permeability"
- },
- "MP:0000272": {
- "id": "MP:0000272",
- "label": "abnormal aorta morphology"
- },
"MP:0000230": {
"id": "MP:0000230",
"label": "abnormal systemic arterial blood pressure"
@@ -573,6 +569,10 @@
"MP:0000233": {
"id": "MP:0000233",
"label": "abnormal blood flow velocity"
+ },
+ "MP:0003070": {
+ "id": "MP:0003070",
+ "label": "increased vascular permeability"
}
},
"subject_best_matches": {
@@ -635,8 +635,8 @@
"HP:0002020": {
"match_source": "HP:0002020",
"match_source_label": "Gastroesophageal reflux",
- "match_target": "MP:0004021",
- "match_target_label": "abnormal rod electrophysiology",
+ "match_target": "MP:0000230",
+ "match_target_label": "abnormal systemic arterial blood pressure",
"score": 5.132448071645384,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -644,7 +644,7 @@
"subject_id": "HP:0002020",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0004021",
+ "object_id": "MP:0000230",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0002332",
@@ -653,18 +653,18 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 5.132448071645384,
- "jaccard_similarity": 0.32432432432432434,
+ "jaccard_similarity": 0.35294117647058826,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.2901851622794578
+ "phenodigm_score": 1.3459020248817237
},
"score_metric": "ancestor_information_content"
},
"HP:0002616": {
"match_source": "HP:0002616",
"match_source_label": "Aortic root aneurysm",
- "match_target": "MP:0009862",
- "match_target_label": "abnormal aorta elastic tissue morphology",
+ "match_target": "MP:0000272",
+ "match_target_label": "abnormal aorta morphology",
"score": 9.580429669539143,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -672,7 +672,7 @@
"subject_id": "HP:0002616",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0009862",
+ "object_id": "MP:0000272",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0076809",
@@ -681,10 +681,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 9.580429669539143,
- "jaccard_similarity": 0.32075471698113206,
+ "jaccard_similarity": 0.36363636363636365,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.7529883077792243
+ "phenodigm_score": 1.8664920592129888
},
"score_metric": "ancestor_information_content"
},
@@ -747,8 +747,8 @@
"HP:0012450": {
"match_source": "HP:0012450",
"match_source_label": "Chronic constipation",
- "match_target": "MP:0003070",
- "match_target_label": "increased vascular permeability",
+ "match_target": "MP:0000230",
+ "match_target_label": "abnormal systemic arterial blood pressure",
"score": 5.132448071645384,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -756,7 +756,7 @@
"subject_id": "HP:0012450",
"subject_label": null,
"subject_source": null,
- "object_id": "MP:0003070",
+ "object_id": "MP:0000230",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0002332",
@@ -765,10 +765,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 5.132448071645384,
- "jaccard_similarity": 0.2926829268292683,
+ "jaccard_similarity": 0.4,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.2256344982940082
+ "phenodigm_score": 1.4328221203827618
},
"score_metric": "ancestor_information_content"
}
@@ -777,8 +777,8 @@
"MP:0000230": {
"match_source": "MP:0000230",
"match_source_label": "abnormal systemic arterial blood pressure",
- "match_target": "HP:0002616",
- "match_target_label": "Aortic root aneurysm",
+ "match_target": "HP:0004944",
+ "match_target_label": "Dilatation of the cerebral artery",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -786,7 +786,7 @@
"subject_id": "MP:0000230",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0002616",
+ "object_id": "HP:0004944",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -795,18 +795,18 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.2558139534883721,
+ "jaccard_similarity": 0.19642857142857142,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.3709124081630277
+ "phenodigm_score": 1.2012956972635551
},
"score_metric": "ancestor_information_content"
},
"MP:0000233": {
"match_source": "MP:0000233",
"match_source_label": "abnormal blood flow velocity",
- "match_target": "HP:0004944",
- "match_target_label": "Dilatation of the cerebral artery",
+ "match_target": "HP:0002616",
+ "match_target_label": "Aortic root aneurysm",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -814,7 +814,7 @@
"subject_id": "MP:0000233",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0004944",
+ "object_id": "HP:0002616",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -823,10 +823,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.18333333333333332,
+ "jaccard_similarity": 0.23404255319148937,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.160561902174834
+ "phenodigm_score": 1.311278698055469
},
"score_metric": "ancestor_information_content"
},
@@ -889,8 +889,8 @@
"MP:0003026": {
"match_source": "MP:0003026",
"match_source_label": "decreased vasoconstriction",
- "match_target": "HP:0004944",
- "match_target_label": "Dilatation of the cerebral artery",
+ "match_target": "HP:0002616",
+ "match_target_label": "Aortic root aneurysm",
"score": 7.3467487024345575,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -898,7 +898,7 @@
"subject_id": "MP:0003026",
"subject_label": null,
"subject_source": null,
- "object_id": "HP:0004944",
+ "object_id": "HP:0002616",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0080362",
@@ -907,10 +907,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 7.3467487024345575,
- "jaccard_similarity": 0.17391304347826086,
+ "jaccard_similarity": 0.21428571428571427,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 1.1303519038380736
+ "phenodigm_score": 1.2547124345358316
},
"score_metric": "ancestor_information_content"
},
diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json
index b6735348f..0372ed449 100644
--- a/frontend/fixtures/phenotype-explorer-search.json
+++ b/frontend/fixtures/phenotype-explorer-search.json
@@ -31,62 +31,56 @@
"has_phenotype": ["ZP:0018569"],
"has_phenotype_label": ["myeloid cell development absent, abnormal"],
"has_phenotype_closure": [
- "GO:0030097",
- "GO:0030154",
- "GO:0048468",
- "UPHENO:0034081",
- "GO:0030099",
- "BFO:0000003",
- "PATO:0000001",
- "BFO:0000002",
+ "ZP:0131284",
+ "UPHENO:0034024",
"BFO:0000015",
- "UPHENO:0001003",
+ "GO:0048468",
+ "GO:0048856",
+ "GO:0008150",
"GO:0032502",
- "BFO:0000020",
- "GO:0061515",
- "BFO:0000001",
- "ZP:0000000",
- "UPHENO:0034073",
- "UPHENO:0034024",
+ "BFO:0000003",
"ZP:0018569",
- "GO:0048869",
- "ZP:0014956",
"UPHENO:0001002",
- "GO:0009987",
+ "ZP:0000000",
"UPHENO:0001001",
- "GO:0008150",
"UPHENO:0078513",
- "ZP:0131284",
- "GO:0048856"
+ "BFO:0000001",
+ "ZP:0014956",
+ "UPHENO:0001003",
+ "UPHENO:0034073",
+ "GO:0030099",
+ "UPHENO:0034081",
+ "GO:0009987",
+ "GO:0030097",
+ "GO:0048869",
+ "GO:0061515",
+ "GO:0030154"
],
"has_phenotype_closure_label": [
- "absent myeloid cell development",
+ "absent biological_process",
+ "cell development",
+ "biological_process",
+ "process",
+ "occurrent",
+ "taxon specific phenotype",
"cellular developmental process",
- "specifically dependent continuant",
- "myeloid cell development absent, abnormal",
"absent developmental process",
- "developmental process",
- "quality",
- "Zebrafish Phenotype",
+ "cellular process",
+ "entity",
+ "myeloid cell differentiation",
+ "hemopoiesis quality, abnormal",
+ "hemopoiesis",
+ "myeloid cell development",
+ "absent myeloid cell development",
+ "myeloid cell development absent, abnormal",
"anatomical structure development",
- "occurrent",
+ "developmental process",
"biological_process quality, abnormal",
"phenotype",
- "phenotypic effect",
- "process",
- "absent biological_process",
- "hemopoiesis",
- "cellular process",
- "cell development",
- "continuant",
- "cell differentiation",
- "myeloid cell development",
- "myeloid cell differentiation",
"absent cellular process",
- "hemopoiesis quality, abnormal",
- "entity",
- "biological_process",
- "taxon specific phenotype"
+ "Zebrafish Phenotype",
+ "cell differentiation",
+ "phenotypic effect"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -100,8 +94,8 @@
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0018569": {
@@ -227,80 +221,74 @@
"myeloid cell development absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0030099",
- "GO:0061515",
- "UPHENO:0078513",
"ZP:0018569",
- "GO:0030097",
- "GO:0048568",
+ "UPHENO:0078513",
+ "GO:0030154",
"ZP:0000000",
+ "ZP:0131284",
+ "BFO:0000003",
"UPHENO:0078511",
- "BFO:0000001",
- "BFO:0000020",
- "GO:0009790",
- "UPHENO:0001001",
- "GO:0032501",
- "UPHENO:0034073",
- "ZP:0018568",
- "GO:0008150",
- "GO:0060215",
"UPHENO:0034024",
+ "BFO:0000015",
+ "GO:0030097",
+ "GO:0048468",
+ "GO:0048856",
+ "GO:0008150",
+ "GO:0032502",
"UPHENO:0001002",
+ "GO:0032501",
"GO:0007275",
- "ZP:0014956",
"GO:0009987",
"GO:0048869",
- "GO:0032502",
+ "GO:0061515",
+ "GO:0009790",
+ "GO:0060215",
+ "UPHENO:0001001",
+ "ZP:0018568",
+ "BFO:0000001",
+ "ZP:0014956",
"UPHENO:0001003",
- "GO:0048513",
- "PATO:0000001",
- "GO:0048856",
- "ZP:0131284",
- "BFO:0000015",
- "BFO:0000003",
+ "GO:0030099",
+ "UPHENO:0034073",
"UPHENO:0034081",
"GO:0035162",
- "BFO:0000002",
- "GO:0048468",
- "GO:0030154"
+ "GO:0048568",
+ "GO:0048513"
],
"has_phenotype_closure_label": [
"absent myeloid cell development",
+ "cellular developmental process",
+ "myeloid cell development absent, abnormal",
"myeloid cell development",
- "continuant",
+ "absent biological_process",
+ "embryonic hemopoiesis",
"cell differentiation",
- "hemopoiesis quality, abnormal",
- "absent primitive hemopoiesis",
+ "animal organ development",
+ "phenotype",
+ "embryo development",
+ "cell development",
+ "multicellular organism development",
+ "biological_process",
+ "process",
+ "primitive hemopoiesis absent, abnormal",
"multicellular organismal process",
+ "cellular process",
+ "taxon specific phenotype",
+ "occurrent",
"myeloid cell differentiation",
- "embryonic hemopoiesis",
- "absent developmental process",
+ "entity",
"primitive hemopoiesis",
- "cell development",
- "animal organ development",
+ "absent developmental process",
+ "phenotypic effect",
+ "Zebrafish Phenotype",
+ "absent primitive hemopoiesis",
"absent cellular process",
- "cellular process",
+ "hemopoiesis quality, abnormal",
"hemopoiesis",
- "entity",
- "process",
- "embryo development",
- "phenotypic effect",
- "phenotype",
- "biological_process quality, abnormal",
- "occurrent",
+ "embryonic organ development",
"anatomical structure development",
- "specifically dependent continuant",
- "taxon specific phenotype",
- "myeloid cell development absent, abnormal",
- "Zebrafish Phenotype",
- "quality",
"developmental process",
- "absent biological_process",
- "primitive hemopoiesis absent, abnormal",
- "biological_process",
- "cellular developmental process",
- "embryonic organ development",
- "multicellular organism development"
+ "biological_process quality, abnormal"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -308,13 +296,13 @@
"score": 7.011754466426716,
"similarity": {
"subject_termset": {
- "ZP:0018569": {
- "id": "ZP:0018569",
- "label": "myeloid cell development absent, abnormal"
- },
"ZP:0018568": {
"id": "ZP:0018568",
"label": "primitive hemopoiesis absent, abnormal"
+ },
+ "ZP:0018569": {
+ "id": "ZP:0018569",
+ "label": "myeloid cell development absent, abnormal"
}
},
"object_termset": {
@@ -383,8 +371,8 @@
"HP:0002104": {
"match_source": "HP:0002104",
"match_source_label": "Apnea",
- "match_target": "ZP:0018569",
- "match_target_label": "myeloid cell development absent, abnormal",
+ "match_target": "ZP:0018568",
+ "match_target_label": "primitive hemopoiesis absent, abnormal",
"score": 8.79057503056431,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -392,7 +380,7 @@
"subject_id": "HP:0002104",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018569",
+ "object_id": "ZP:0018568",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0034024",
@@ -411,8 +399,8 @@
"HP:0012378": {
"match_source": "HP:0012378",
"match_source_label": "Fatigue",
- "match_target": "ZP:0018569",
- "match_target_label": "myeloid cell development absent, abnormal",
+ "match_target": "ZP:0018568",
+ "match_target_label": "primitive hemopoiesis absent, abnormal",
"score": 1.6752927740139332,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -420,7 +408,7 @@
"subject_id": "HP:0012378",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018569",
+ "object_id": "ZP:0018568",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0001005",
@@ -465,86 +453,80 @@
"uri": "https://identifiers.org/zfin/ZDB-GENE-030131-5264",
"iri": null,
"namespace": "ZFIN",
- "has_phenotype": ["ZP:0018569", "ZP:0018568"],
+ "has_phenotype": ["ZP:0018568", "ZP:0018569"],
"has_phenotype_label": [
- "myeloid cell development absent, abnormal",
- "primitive hemopoiesis absent, abnormal"
+ "primitive hemopoiesis absent, abnormal",
+ "myeloid cell development absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0009790",
- "ZP:0018568",
- "GO:0048513",
+ "ZP:0018569",
+ "UPHENO:0078513",
+ "GO:0030154",
+ "ZP:0000000",
+ "ZP:0131284",
+ "BFO:0000003",
"UPHENO:0078511",
- "GO:0032501",
+ "UPHENO:0034024",
+ "BFO:0000015",
+ "GO:0030097",
+ "GO:0048468",
"GO:0048856",
- "ZP:0131284",
- "UPHENO:0078513",
"GO:0008150",
- "UPHENO:0001001",
+ "GO:0032502",
"UPHENO:0001002",
+ "GO:0032501",
"GO:0007275",
- "ZP:0014956",
"GO:0009987",
"GO:0048869",
- "ZP:0018569",
- "UPHENO:0034024",
+ "GO:0061515",
+ "GO:0009790",
"GO:0060215",
- "UPHENO:0034073",
- "GO:0048568",
- "ZP:0000000",
+ "UPHENO:0001001",
+ "ZP:0018568",
"BFO:0000001",
- "GO:0061515",
- "BFO:0000020",
- "GO:0032502",
+ "ZP:0014956",
"UPHENO:0001003",
- "BFO:0000015",
- "PATO:0000001",
- "BFO:0000003",
"GO:0030099",
+ "UPHENO:0034073",
"UPHENO:0034081",
"GO:0035162",
- "BFO:0000002",
- "GO:0048468",
- "GO:0030154",
- "GO:0030097"
+ "GO:0048568",
+ "GO:0048513"
],
"has_phenotype_closure_label": [
+ "absent myeloid cell development",
+ "cellular developmental process",
+ "myeloid cell development absent, abnormal",
+ "myeloid cell development",
+ "absent biological_process",
+ "embryonic hemopoiesis",
+ "cell differentiation",
+ "animal organ development",
+ "phenotype",
+ "embryo development",
+ "cell development",
"multicellular organism development",
- "absent primitive hemopoiesis",
+ "biological_process",
+ "process",
+ "primitive hemopoiesis absent, abnormal",
"multicellular organismal process",
- "animal organ development",
+ "cellular process",
"taxon specific phenotype",
- "biological_process",
+ "occurrent",
+ "myeloid cell differentiation",
"entity",
- "hemopoiesis quality, abnormal",
- "myeloid cell development",
- "cell differentiation",
- "continuant",
"primitive hemopoiesis",
- "cell development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
- "primitive hemopoiesis absent, abnormal",
- "absent biological_process",
- "process",
- "phenotype",
- "biological_process quality, abnormal",
- "occurrent",
- "anatomical structure development",
- "developmental process",
"absent developmental process",
- "myeloid cell differentiation",
- "embryonic hemopoiesis",
+ "phenotypic effect",
"Zebrafish Phenotype",
- "quality",
- "myeloid cell development absent, abnormal",
- "specifically dependent continuant",
+ "absent primitive hemopoiesis",
+ "absent cellular process",
+ "hemopoiesis quality, abnormal",
+ "hemopoiesis",
"embryonic organ development",
- "cellular developmental process",
- "absent myeloid cell development",
- "phenotypic effect",
- "embryo development"
+ "anatomical structure development",
+ "developmental process",
+ "biological_process quality, abnormal"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -627,8 +609,8 @@
"HP:0002104": {
"match_source": "HP:0002104",
"match_source_label": "Apnea",
- "match_target": "ZP:0018569",
- "match_target_label": "myeloid cell development absent, abnormal",
+ "match_target": "ZP:0018568",
+ "match_target_label": "primitive hemopoiesis absent, abnormal",
"score": 8.79057503056431,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -636,7 +618,7 @@
"subject_id": "HP:0002104",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018569",
+ "object_id": "ZP:0018568",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0034024",
@@ -716,86 +698,80 @@
"uri": "https://identifiers.org/zfin/ZDB-GENE-121214-344",
"iri": null,
"namespace": "ZFIN",
- "has_phenotype": ["ZP:0018568", "ZP:0018569"],
+ "has_phenotype": ["ZP:0018569", "ZP:0018568"],
"has_phenotype_label": [
- "primitive hemopoiesis absent, abnormal",
- "myeloid cell development absent, abnormal"
+ "myeloid cell development absent, abnormal",
+ "primitive hemopoiesis absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0030099",
- "GO:0061515",
- "UPHENO:0078513",
- "ZP:0018569",
- "GO:0030097",
+ "ZP:0018568",
"GO:0048568",
- "ZP:0000000",
+ "GO:0035162",
+ "GO:0048513",
+ "ZP:0131284",
+ "UPHENO:0034024",
+ "BFO:0000015",
+ "GO:0048468",
+ "GO:0048856",
+ "GO:0008150",
+ "GO:0032502",
"UPHENO:0078511",
- "BFO:0000001",
- "BFO:0000020",
- "GO:0009790",
- "UPHENO:0001001",
+ "BFO:0000003",
+ "ZP:0018569",
"GO:0032501",
- "UPHENO:0034073",
- "ZP:0018568",
- "GO:0008150",
- "GO:0060215",
- "UPHENO:0034024",
"UPHENO:0001002",
- "GO:0007275",
+ "ZP:0000000",
+ "GO:0060215",
+ "UPHENO:0001001",
+ "UPHENO:0078513",
+ "BFO:0000001",
"ZP:0014956",
- "GO:0009987",
- "GO:0048869",
- "GO:0032502",
"UPHENO:0001003",
- "GO:0048513",
- "PATO:0000001",
- "GO:0048856",
- "ZP:0131284",
- "BFO:0000015",
- "BFO:0000003",
+ "UPHENO:0034073",
+ "GO:0030099",
"UPHENO:0034081",
- "GO:0035162",
- "BFO:0000002",
- "GO:0048468",
+ "GO:0007275",
+ "GO:0009987",
+ "GO:0030097",
+ "GO:0009790",
+ "GO:0048869",
+ "GO:0061515",
"GO:0030154"
],
"has_phenotype_closure_label": [
- "absent myeloid cell development",
- "myeloid cell development",
- "continuant",
- "cell differentiation",
- "hemopoiesis quality, abnormal",
- "absent primitive hemopoiesis",
- "multicellular organismal process",
- "myeloid cell differentiation",
"embryonic hemopoiesis",
- "absent developmental process",
- "primitive hemopoiesis",
+ "primitive hemopoiesis absent, abnormal",
+ "multicellular organismal process",
+ "absent primitive hemopoiesis",
+ "embryonic organ development",
+ "absent biological_process",
+ "multicellular organism development",
"cell development",
- "animal organ development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
- "entity",
+ "biological_process",
"process",
- "embryo development",
- "phenotypic effect",
- "phenotype",
- "biological_process quality, abnormal",
"occurrent",
- "anatomical structure development",
- "specifically dependent continuant",
"taxon specific phenotype",
+ "cellular developmental process",
+ "primitive hemopoiesis",
+ "absent developmental process",
+ "cellular process",
+ "entity",
+ "myeloid cell differentiation",
+ "hemopoiesis quality, abnormal",
+ "hemopoiesis",
+ "myeloid cell development",
+ "absent myeloid cell development",
"myeloid cell development absent, abnormal",
- "Zebrafish Phenotype",
- "quality",
+ "anatomical structure development",
"developmental process",
- "absent biological_process",
- "primitive hemopoiesis absent, abnormal",
- "biological_process",
- "cellular developmental process",
- "embryonic organ development",
- "multicellular organism development"
+ "biological_process quality, abnormal",
+ "embryo development",
+ "phenotype",
+ "absent cellular process",
+ "Zebrafish Phenotype",
+ "animal organ development",
+ "cell differentiation",
+ "phenotypic effect"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -813,8 +789,8 @@
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0018568": {
@@ -906,8 +882,8 @@
"HP:0012378": {
"match_source": "HP:0012378",
"match_source_label": "Fatigue",
- "match_target": "ZP:0018568",
- "match_target_label": "primitive hemopoiesis absent, abnormal",
+ "match_target": "ZP:0018569",
+ "match_target_label": "myeloid cell development absent, abnormal",
"score": 1.6752927740139332,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -915,7 +891,7 @@
"subject_id": "HP:0012378",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018568",
+ "object_id": "ZP:0018569",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0001005",
@@ -967,86 +943,80 @@
"uri": "https://identifiers.org/zfin/ZDB-GENE-040426-2142",
"iri": null,
"namespace": "ZFIN",
- "has_phenotype": ["ZP:0018568", "ZP:0018569"],
+ "has_phenotype": ["ZP:0018569", "ZP:0018568"],
"has_phenotype_label": [
- "primitive hemopoiesis absent, abnormal",
- "myeloid cell development absent, abnormal"
+ "myeloid cell development absent, abnormal",
+ "primitive hemopoiesis absent, abnormal"
],
"has_phenotype_closure": [
- "GO:0030099",
- "GO:0061515",
- "UPHENO:0078513",
- "ZP:0018569",
- "GO:0030097",
+ "ZP:0018568",
"GO:0048568",
- "ZP:0000000",
+ "GO:0035162",
+ "GO:0048513",
+ "ZP:0131284",
+ "UPHENO:0034024",
+ "BFO:0000015",
+ "GO:0048468",
+ "GO:0048856",
+ "GO:0008150",
+ "GO:0032502",
"UPHENO:0078511",
- "BFO:0000001",
- "BFO:0000020",
- "GO:0009790",
- "UPHENO:0001001",
+ "BFO:0000003",
+ "ZP:0018569",
"GO:0032501",
- "UPHENO:0034073",
- "ZP:0018568",
- "GO:0008150",
- "GO:0060215",
- "UPHENO:0034024",
"UPHENO:0001002",
- "GO:0007275",
+ "ZP:0000000",
+ "GO:0060215",
+ "UPHENO:0001001",
+ "UPHENO:0078513",
+ "BFO:0000001",
"ZP:0014956",
- "GO:0009987",
- "GO:0048869",
- "GO:0032502",
"UPHENO:0001003",
- "GO:0048513",
- "PATO:0000001",
- "GO:0048856",
- "ZP:0131284",
- "BFO:0000015",
- "BFO:0000003",
+ "UPHENO:0034073",
+ "GO:0030099",
"UPHENO:0034081",
- "GO:0035162",
- "BFO:0000002",
- "GO:0048468",
+ "GO:0007275",
+ "GO:0009987",
+ "GO:0030097",
+ "GO:0009790",
+ "GO:0048869",
+ "GO:0061515",
"GO:0030154"
],
"has_phenotype_closure_label": [
- "absent myeloid cell development",
- "myeloid cell development",
- "continuant",
- "cell differentiation",
- "hemopoiesis quality, abnormal",
- "absent primitive hemopoiesis",
- "multicellular organismal process",
- "myeloid cell differentiation",
"embryonic hemopoiesis",
- "absent developmental process",
- "primitive hemopoiesis",
+ "primitive hemopoiesis absent, abnormal",
+ "multicellular organismal process",
+ "absent primitive hemopoiesis",
+ "embryonic organ development",
+ "absent biological_process",
+ "multicellular organism development",
"cell development",
- "animal organ development",
- "absent cellular process",
- "cellular process",
- "hemopoiesis",
- "entity",
+ "biological_process",
"process",
- "embryo development",
- "phenotypic effect",
- "phenotype",
- "biological_process quality, abnormal",
"occurrent",
- "anatomical structure development",
- "specifically dependent continuant",
"taxon specific phenotype",
+ "cellular developmental process",
+ "primitive hemopoiesis",
+ "absent developmental process",
+ "cellular process",
+ "entity",
+ "myeloid cell differentiation",
+ "hemopoiesis quality, abnormal",
+ "hemopoiesis",
+ "myeloid cell development",
+ "absent myeloid cell development",
"myeloid cell development absent, abnormal",
- "Zebrafish Phenotype",
- "quality",
+ "anatomical structure development",
"developmental process",
- "absent biological_process",
- "primitive hemopoiesis absent, abnormal",
- "biological_process",
- "cellular developmental process",
- "embryonic organ development",
- "multicellular organism development"
+ "biological_process quality, abnormal",
+ "embryo development",
+ "phenotype",
+ "absent cellular process",
+ "Zebrafish Phenotype",
+ "animal organ development",
+ "cell differentiation",
+ "phenotypic effect"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -1064,8 +1034,8 @@
}
},
"object_termset": {
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
},
"subject_best_matches": {
"ZP:0018568": {
@@ -1129,8 +1099,8 @@
"HP:0002104": {
"match_source": "HP:0002104",
"match_source_label": "Apnea",
- "match_target": "ZP:0018569",
- "match_target_label": "myeloid cell development absent, abnormal",
+ "match_target": "ZP:0018568",
+ "match_target_label": "primitive hemopoiesis absent, abnormal",
"score": 8.79057503056431,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -1138,7 +1108,7 @@
"subject_id": "HP:0002104",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0018569",
+ "object_id": "ZP:0018568",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0034024",
@@ -1205,90 +1175,103 @@
"uri": "https://identifiers.org/zfin/ZDB-GENE-070117-2249",
"iri": null,
"namespace": "ZFIN",
- "has_phenotype": ["ZP:0100294", "ZP:0000945"],
+ "has_phenotype": ["ZP:0000945", "ZP:0100294"],
"has_phenotype_label": [
- "visual perception absent, abnormal",
- "pigment cell quality, abnormal"
+ "pigment cell quality, abnormal",
+ "visual perception absent, abnormal"
],
"has_phenotype_closure": [
- "UPHENO:0002530",
- "UBERON:0001062",
- "BFO:0000040",
- "ZP:0107311",
- "ZP:0000945",
- "UPHENO:0002525",
- "UPHENO:0034024",
- "GO:0008150",
- "BFO:0000004",
- "UPHENO:0001002",
- "UPHENO:0001001",
- "UPHENO:0034009",
- "GO:0032501",
- "ZP:0000000",
- "BFO:0000015",
- "GO:0007601",
- "UBERON:0000465",
"UPHENO:0034008",
- "UPHENO:0034014",
- "UPHENO:0001003",
- "GO:0050953",
"ZP:0131284",
- "BFO:0000001",
- "UPHENO:0002536",
- "GO:0003008",
- "BFO:0000020",
- "ZP:0107301",
- "UPHENO:0078456",
+ "UPHENO:0034009",
"ZP:0100294",
- "ZP:0001840",
- "GO:0007600",
+ "GO:0008150",
"UPHENO:0034007",
+ "GO:0050953",
"BFO:0000003",
- "BFO:0000002",
- "PATO:0000001",
+ "GO:0007601",
+ "BFO:0000015",
+ "UPHENO:0034024",
+ "UPHENO:0002525",
+ "UPHENO:0002530",
+ "ZP:0000000",
+ "ZP:0000945",
"ZP:0107296",
+ "ZP:0001840",
+ "UBERON:0000468",
+ "UPHENO:0078456",
+ "ZP:0107301",
+ "BFO:0000002",
+ "UPHENO:0002536",
+ "CL:0000000",
+ "CL:0000325",
+ "ZFA:0009090",
+ "GO:0007600",
+ "BFO:0000004",
+ "UPHENO:0001003",
+ "BFO:0000001",
+ "ZFA:0000037",
+ "ZP:0107311",
+ "UBERON:0001062",
+ "CL:0000147",
+ "ZFA:0001094",
+ "UBERON:0000061",
+ "GO:0003008",
+ "UBERON:0010000",
+ "UBERON:0000465",
"GO:0050877",
- "UBERON:0000061"
+ "UPHENO:0001001",
+ "GO:0032501",
+ "UPHENO:0001002",
+ "ZFA:0100000",
+ "BFO:0000040",
+ "UPHENO:0034014",
+ "ZFA:0009000"
],
"has_phenotype_closure_label": [
- "independent continuant",
+ "absent nervous system process",
+ "visual perception quality, abnormal",
+ "biological_process",
+ "absent sensory perception",
+ "nervous system process",
+ "multicellular organismal process",
+ "system process",
+ "biological_process quality, abnormal",
+ "sensory perception of light stimulus",
+ "multicellular organism",
+ "occurrent",
+ "cell quality, abnormal",
+ "material entity",
+ "process",
"anatomical structure quality, abnormal",
+ "phenotypic effect",
+ "zebrafish anatomical entity",
+ "Zebrafish Phenotype",
+ "whole organism",
"pigment cell quality, abnormal",
- "material anatomical entity phenotype",
"material anatomical entity",
- "anatomical entity",
- "occurrent",
- "nervous system process",
+ "cell",
+ "anatomical entity phenotype",
+ "pigment cell",
"entity",
- "sensory perception",
- "process",
- "specifically dependent continuant",
- "phenotype",
- "biological_process quality, abnormal",
- "phenotypic effect",
- "system process",
+ "anatomical entity",
"absent system process",
- "cell quality, abnormal",
- "absent multicellular organismal process",
- "biological_process",
"visual perception",
- "visual perception quality, abnormal",
- "absent nervous system process",
- "taxon specific phenotype",
+ "material anatomical entity phenotype",
+ "anatomical structure",
+ "stuff accumulating cell",
+ "absent multicellular organismal process",
+ "multicellular anatomical structure",
+ "independent continuant",
+ "phenotype",
+ "absent biological_process",
"zebrafish anatomical entity quality, abnormal",
- "anatomical entity phenotype",
- "Zebrafish Phenotype",
- "quality",
- "anatomical structure phenotype",
- "multicellular organismal process",
+ "continuant",
+ "taxon specific phenotype",
+ "sensory perception",
"absent visual perception",
"visual perception absent, abnormal",
- "absent sensory perception",
- "absent biological_process",
- "continuant",
- "sensory perception of light stimulus",
- "material entity",
- "anatomical structure"
+ "anatomical structure phenotype"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -1296,18 +1279,18 @@
"score": 5.262083911717577,
"similarity": {
"subject_termset": {
- "ZP:0000945": {
- "id": "ZP:0000945",
- "label": "pigment cell quality, abnormal"
- },
"ZP:0100294": {
"id": "ZP:0100294",
"label": "visual perception absent, abnormal"
+ },
+ "ZP:0000945": {
+ "id": "ZP:0000945",
+ "label": "pigment cell quality, abnormal"
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0000945": {
@@ -1399,8 +1382,8 @@
"HP:0012378": {
"match_source": "HP:0012378",
"match_source_label": "Fatigue",
- "match_target": "ZP:0100294",
- "match_target_label": "visual perception absent, abnormal",
+ "match_target": "ZP:0000945",
+ "match_target_label": "pigment cell quality, abnormal",
"score": 1.6752927740139332,
"match_subsumer": null,
"match_subsumer_label": null,
@@ -1408,7 +1391,7 @@
"subject_id": "HP:0012378",
"subject_label": null,
"subject_source": null,
- "object_id": "ZP:0100294",
+ "object_id": "ZP:0000945",
"object_label": null,
"object_source": null,
"ancestor_id": "UPHENO:0001005",
@@ -1417,10 +1400,10 @@
"object_information_content": null,
"subject_information_content": null,
"ancestor_information_content": 1.6752927740139332,
- "jaccard_similarity": 0.4444444444444444,
+ "jaccard_similarity": 0.42105263157894735,
"cosine_similarity": null,
"dice_similarity": null,
- "phenodigm_score": 0.8628873427211774
+ "phenodigm_score": 0.8398728660718605
},
"score_metric": "ancestor_information_content"
}
@@ -1447,70 +1430,64 @@
"uri": "https://identifiers.org/zfin/ZDB-GENE-070117-1530",
"iri": null,
"namespace": "ZFIN",
- "has_phenotype": ["ZP:0001841", "ZP:0015039"],
+ "has_phenotype": ["ZP:0015039", "ZP:0001841"],
"has_phenotype_label": [
- "visual behavior quality, abnormal",
- "visual behavior absent, abnormal"
+ "visual behavior absent, abnormal",
+ "visual behavior quality, abnormal"
],
"has_phenotype_closure": [
- "UPHENO:0001002",
- "UPHENO:0078496",
+ "ZP:0001669",
+ "ZP:0005465",
+ "GO:0008150",
+ "GO:0009628",
+ "UPHENO:0034024",
"UPHENO:0034012",
- "GO:0007632",
- "GO:0009314",
- "ZP:0015039",
- "ZP:0131284",
- "ZP:0001841",
- "UPHENO:0001001",
+ "BFO:0000015",
"UPHENO:0034009",
- "UPHENO:0001003",
- "UPHENO:0034024",
- "GO:0007610",
- "UPHENO:0034056",
- "GO:0050896",
- "GO:0009628",
- "GO:0008150",
+ "UPHENO:0001002",
+ "GO:0032501",
"BFO:0000003",
- "BFO:0000015",
- "PATO:0000001",
- "BFO:0000002",
+ "ZP:0015039",
+ "UPHENO:0078496",
+ "ZP:0000000",
+ "UPHENO:0001001",
"GO:0009416",
+ "ZP:0001841",
+ "UPHENO:0034056",
+ "GO:0007610",
"BFO:0000001",
- "BFO:0000020",
- "ZP:0005465",
- "ZP:0000000",
- "GO:0032501",
- "ZP:0001669"
+ "UPHENO:0001003",
+ "GO:0007632",
+ "ZP:0131284",
+ "GO:0050896",
+ "GO:0009314"
],
"has_phenotype_closure_label": [
"absent biological_process",
"phenotypic effect",
- "visual behavior absent, abnormal",
- "absent response to stimulus",
- "absent visual behavior",
- "behavior",
- "absent behavior",
- "specifically dependent continuant",
- "biological_process quality, abnormal",
- "phenotype",
- "quality",
"Zebrafish Phenotype",
- "visual behavior quality, abnormal",
- "response to light stimulus quality, abnormal",
+ "absent visual behavior",
"process",
- "absent multicellular organismal process",
+ "visual behavior absent, abnormal",
+ "absent response to stimulus",
+ "occurrent",
+ "biological_process",
+ "multicellular organismal process",
+ "response to stimulus",
"taxon specific phenotype",
"response to radiation",
+ "visual behavior quality, abnormal",
"response to abiotic stimulus",
+ "behavior quality, abnormal",
+ "behavior",
+ "response to light stimulus",
"entity",
- "biological_process",
- "continuant",
+ "response to light stimulus quality, abnormal",
+ "phenotype",
"visual behavior",
- "occurrent",
- "multicellular organismal process",
- "behavior quality, abnormal",
- "response to stimulus",
- "response to light stimulus"
+ "absent multicellular organismal process",
+ "biological_process quality, abnormal",
+ "absent behavior"
],
"has_phenotype_count": 2,
"type": ["SO:0001217"]
@@ -1528,8 +1505,8 @@
}
},
"object_termset": {
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
},
"subject_best_matches": {
"ZP:0001841": {
@@ -1678,172 +1655,175 @@
"has_phenotype": ["ZP:0005756"],
"has_phenotype_label": ["pharyngeal arch non-functional, abnormal"],
"has_phenotype_closure": [
- "UBERON:0034944",
- "UPHENO:0002530",
- "ZP:0000395",
- "NCBITaxon:2759",
- "UBERON:0001041",
- "UBERON:0013522",
- "UBERON:0008816",
- "UBERON:0000062",
- "UBERON:0000475",
- "UBERON:0000467",
+ "UBERON:0000922",
+ "UBERON:0000025",
+ "UBERON:0000061",
+ "UPHENO:0002525",
+ "UPHENO:0002988",
+ "UBERON:0000468",
"BFO:0000040",
- "UPHENO:0002541",
- "UPHENO:0002963",
- "BFO:0000020",
- "ZP:0000000",
+ "UPHENO:0002926",
+ "UBERON:0001041",
+ "UBERON:0013701",
+ "UBERON:0011676",
+ "UBERON:0000153",
+ "UBERON:0000481",
+ "UBERON:0000465",
"ZP:0107569",
- "ZP:0107301",
- "UBERON:0000468",
- "BFO:0000001",
- "UPHENO:0002525",
- "UBERON:0010188",
- "NCBITaxon:33154",
- "UBERON:0001062",
- "UBERON:0010314",
- "UPHENO:0003488",
- "ZP:0107307",
"UBERON:0001555",
- "UPHENO:0001002",
- "BFO:0000004",
- "ZP:0107311",
- "UPHENO:0001001",
- "UBERON:0011676",
- "NCBITaxon:1",
- "UPHENO:0002833",
- "UBERON:0000033",
- "UBERON:0000025",
- "OBI:0100026",
- "UPHENO:0001003",
- "UBERON:0000922",
- "UPHENO:0004900",
- "UPHENO:0002926",
- "NCBITaxon:131567",
- "UBERON:0008814",
- "UPHENO:0002668",
"UBERON:0013702",
- "UPHENO:0003446",
- "UBERON:0001007",
- "UPHENO:0002643",
- "ZP:0005756",
- "BFO:0000002",
- "UPHENO:0004481",
- "UPHENO:0002553",
- "UPHENO:0002526",
- "UBERON:0010000",
- "UBERON:0000465",
- "UPHENO:0003021",
- "UPHENO:0002902",
- "PATO:0000001",
- "UBERON:0000061",
"UBERON:0007811",
- "UBERON:0002539",
- "UPHENO:0002859",
- "UPHENO:0002536",
"UBERON:0034921",
- "UPHENO:0002994",
+ "UPHENO:0004900",
"UBERON:0000064",
- "UBERON:0004921",
- "UPHENO:0003025",
+ "NCBITaxon:33208",
+ "ZFA:0000037",
+ "NCBITaxon:2759",
+ "NCBITaxon:1",
"UPHENO:0002568",
+ "UPHENO:0002553",
+ "UPHENO:0002531",
+ "BFO:0000004",
+ "ZP:0107311",
+ "ZFA:0001306",
+ "UPHENO:0002668",
+ "ZFA:0001114",
+ "UPHENO:0002530",
+ "ZP:0107301",
+ "UBERON:0001062",
+ "UPHENO:0002541",
+ "UPHENO:0002764",
"UPHENO:0002949",
- "UBERON:0000481",
- "NCBITaxon:33208",
- "UPHENO:0002988",
- "UBERON:0009145",
+ "UPHENO:0001003",
+ "ZP:0000395",
+ "UBERON:0005423",
+ "BFO:0000001",
+ "UPHENO:0003021",
+ "ZP:0005756",
+ "NCBITaxon:6072",
+ "UBERON:0004921",
+ "ZP:0107307",
+ "UBERON:0010188",
+ "UBERON:8450003",
+ "UPHENO:0001002",
+ "ZFA:0100000",
+ "UPHENO:0003025",
+ "UBERON:0002539",
+ "UPHENO:0002902",
+ "UPHENO:0003488",
+ "UBERON:0008814",
+ "UPHENO:0003446",
+ "NCBITaxon:131567",
+ "ZP:0000000",
+ "UPHENO:0002526",
+ "UBERON:0010314",
+ "ZFA:0001094",
+ "UBERON:0000467",
+ "UBERON:0000033",
+ "BFO:0000002",
+ "UBERON:0001007",
+ "UBERON:0034944",
+ "ZFA:0001488",
+ "NCBITaxon:33154",
+ "UBERON:0000062",
+ "UPHENO:0002963",
+ "UPHENO:0004481",
+ "UPHENO:0002833",
"UPHENO:0002844",
+ "UBERON:0009145",
+ "UBERON:0000475",
+ "ZFA:0001308",
"UBERON:0004111",
- "UBERON:0000153",
- "UBERON:0013701",
- "NCBITaxon:6072",
- "UPHENO:0002764",
- "UPHENO:0002531",
- "UBERON:0005423"
+ "UBERON:0013522",
+ "UPHENO:0002859",
+ "UBERON:0010000",
+ "UPHENO:0001001",
+ "UPHENO:0002536",
+ "UPHENO:0002643",
+ "UPHENO:0002994"
],
"has_phenotype_closure_label": [
- "pharyngeal arch non-functional, abnormal",
- "digestive system",
- "cellular organisms",
+ "subdivision of tube",
+ "zone of organ",
+ "multicellular organism",
+ "foregut phenotype",
"organ phenotype",
- "Opisthokonta",
- "pharyngeal arch",
- "pharyngeal arch phenotype",
+ "embryo phenotype",
+ "protuberance",
+ "material entity",
+ "pharyngeal region of foregut",
+ "whole organism",
+ "independent continuant",
+ "Zebrafish Phenotype",
+ "zone of organ phenotype",
+ "head",
+ "continuant",
+ "pharyngeal arch non-functional, abnormal",
+ "multi-tissue structure phenotype",
+ "entity",
+ "anatomical structure quality, abnormal",
+ "subdivision of digestive tract phenotype",
+ "zebrafish anatomical entity",
+ "multicellular anatomical structure",
+ "protuberance phenotype",
+ "digestive system phenotype",
"multi-tissue structure quality, abnormal",
- "organ part phenotype",
- "specifically dependent continuant",
- "structure with developmental contribution from neural crest",
- "multi organ part structure phenotype",
- "main body axis",
"subdivision of organism along main body axis",
"anterior region of body",
+ "organism subdivision",
+ "embryonic craniocervical region",
+ "Opisthokonta",
+ "multi organ part structure",
"taxon specific phenotype",
- "digestive tract",
- "embryonic head",
- "craniocervical region",
- "multicellular anatomical structure phenotype",
- "anatomical system",
+ "anatomical system phenotype",
+ "organism subdivision phenotype",
+ "multi organ part structure phenotype",
+ "subdivision of organism along main body axis phenotype",
"phenotype",
- "developing anatomical structure",
"Eumetazoa",
- "phenotypic effect",
- "multicellular organism",
- "pharyngeal arch physical object quality, abnormal",
"subdivision of digestive tract",
- "protuberance",
- "organism subdivision",
- "subdivision of tube",
- "material entity",
- "continuant",
- "anatomical conduit",
- "organ",
- "head",
- "structure with developmental contribution from neural crest phenotype",
- "tube",
- "subdivision of digestive tract phenotype",
- "developing anatomical structure phenotype",
+ "digestive system",
"anatomical entity",
- "multi-tissue structure phenotype",
- "zebrafish anatomical entity quality, abnormal",
- "anatomical system phenotype",
- "subdivision of organism along main body axis phenotype",
- "tube phenotype",
- "entity",
+ "pharyngeal arch quality, abnormal",
+ "organ part phenotype",
"foregut",
- "digestive system phenotype",
- "pharyngeal region of foregut",
- "anatomical structure quality, abnormal",
- "multi organ part structure",
+ "anatomical structure phenotype",
+ "root",
+ "tube phenotype",
+ "main body axis",
+ "anatomical structure",
+ "subdivision of tube phenotype",
"multi-tissue structure",
- "organism subdivision phenotype",
- "body proper",
+ "anatomical system",
+ "developing anatomical structure phenotype",
+ "digestive tract",
"anatomical entity phenotype",
+ "pharyngeal arch physical object quality, abnormal",
+ "Metazoa",
+ "pharyngeal arch phenotype",
+ "organ part",
+ "pharyngeal arch system",
+ "craniocervical region phenotype",
+ "body proper",
+ "craniocervical region",
+ "organ",
"Eukaryota",
- "protuberance phenotype",
- "Zebrafish Phenotype",
- "zone of organ",
- "anatomical structure",
+ "anatomical conduit",
+ "material anatomical entity phenotype",
+ "structure with developmental contribution from neural crest",
"head phenotype",
- "quality",
"multicellular organism phenotype",
- "multicellular anatomical structure",
- "zone of organ phenotype",
+ "developing anatomical structure",
+ "multicellular anatomical structure phenotype",
"material anatomical entity",
- "anatomical conduit phenotype",
- "material anatomical entity phenotype",
- "craniocervical region phenotype",
- "subdivision of tube phenotype",
- "Metazoa",
+ "cellular organisms",
"embryo",
- "foregut phenotype",
- "organism",
- "pharyngeal arch quality, abnormal",
- "organ part",
- "anatomical structure phenotype",
- "pharyngeal arch system",
- "embryo phenotype",
- "root",
- "independent continuant"
+ "anatomical conduit phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "tube",
+ "phenotypic effect",
+ "pharyngeal arch",
+ "zebrafish anatomical entity quality, abnormal"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -1980,58 +1960,59 @@
"has_phenotype": ["ZP:0001432"],
"has_phenotype_label": ["whole organism morphology, abnormal"],
"has_phenotype_closure": [
+ "UPHENO:0002525",
"UPHENO:0002530",
- "UBERON:0001062",
- "BFO:0000040",
- "ZP:0013613",
- "ZP:0000000",
- "ZP:0107311",
- "UPHENO:0001002",
- "ZP:0001432",
+ "ZFA:0100000",
"ZP:0100009",
- "PATO:0000001",
+ "UPHENO:0001002",
"BFO:0000002",
- "UPHENO:0002949",
- "UPHENO:0001003",
- "BFO:0000004",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UBERON:0010000",
+ "BFO:0000040",
+ "ZP:0107311",
+ "ZFA:0000037",
+ "UBERON:0001062",
"UBERON:0000061",
- "BFO:0000020",
+ "UPHENO:0002949",
"BFO:0000001",
- "UPHENO:0002536",
+ "UPHENO:0001003",
"ZP:0107301",
- "UPHENO:0002525",
"UBERON:0000468",
- "UPHENO:0002568"
+ "UPHENO:0001001",
+ "UPHENO:0002568",
+ "ZP:0013613",
+ "UPHENO:0002536",
+ "ZP:0001432",
+ "ZFA:0001094",
+ "BFO:0000004",
+ "ZP:0000000",
+ "UBERON:0010000",
+ "UBERON:0000465"
],
"has_phenotype_closure_label": [
- "phenotypic effect",
- "multicellular anatomical structure",
+ "entity",
+ "material entity",
"anatomical structure quality, abnormal",
+ "phenotypic effect",
+ "zebrafish anatomical entity",
+ "anatomical entity",
+ "taxon specific phenotype",
+ "whole organism quality, abnormal",
"anatomical structure phenotype",
- "quality",
+ "multicellular anatomical structure phenotype",
+ "multicellular organism phenotype",
+ "anatomical structure",
"Zebrafish Phenotype",
+ "whole organism",
"anatomical entity phenotype",
- "taxon specific phenotype",
- "anatomical structure",
"whole organism physical object quality, abnormal",
- "multicellular anatomical structure phenotype",
+ "material anatomical entity",
"multicellular organism",
- "independent continuant",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure",
"continuant",
- "phenotype",
- "multicellular organism phenotype",
- "whole organism morphology, abnormal",
"zebrafish anatomical entity quality, abnormal",
- "specifically dependent continuant",
- "anatomical entity",
- "whole organism quality, abnormal",
- "material entity",
- "material anatomical entity",
- "material anatomical entity phenotype",
- "entity"
+ "independent continuant",
+ "phenotype",
+ "whole organism morphology, abnormal"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -2045,8 +2026,8 @@
}
},
"object_termset": {
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
},
"subject_best_matches": {
"ZP:0001432": {
@@ -2168,58 +2149,59 @@
"has_phenotype": ["ZP:0001432"],
"has_phenotype_label": ["whole organism morphology, abnormal"],
"has_phenotype_closure": [
+ "UPHENO:0002525",
"UPHENO:0002530",
- "UBERON:0001062",
- "BFO:0000040",
- "ZP:0013613",
- "ZP:0000000",
- "ZP:0107311",
- "UPHENO:0001002",
- "ZP:0001432",
+ "ZFA:0100000",
"ZP:0100009",
- "PATO:0000001",
+ "UPHENO:0001002",
"BFO:0000002",
- "UPHENO:0002949",
- "UPHENO:0001003",
- "BFO:0000004",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UBERON:0010000",
+ "BFO:0000040",
+ "ZP:0107311",
+ "ZFA:0000037",
+ "UBERON:0001062",
"UBERON:0000061",
- "BFO:0000020",
+ "UPHENO:0002949",
"BFO:0000001",
- "UPHENO:0002536",
+ "UPHENO:0001003",
"ZP:0107301",
- "UPHENO:0002525",
"UBERON:0000468",
- "UPHENO:0002568"
+ "UPHENO:0001001",
+ "UPHENO:0002568",
+ "ZP:0013613",
+ "UPHENO:0002536",
+ "ZP:0001432",
+ "ZFA:0001094",
+ "BFO:0000004",
+ "ZP:0000000",
+ "UBERON:0010000",
+ "UBERON:0000465"
],
"has_phenotype_closure_label": [
- "phenotypic effect",
- "multicellular anatomical structure",
+ "entity",
+ "material entity",
"anatomical structure quality, abnormal",
+ "phenotypic effect",
+ "zebrafish anatomical entity",
+ "anatomical entity",
+ "taxon specific phenotype",
+ "whole organism quality, abnormal",
"anatomical structure phenotype",
- "quality",
+ "multicellular anatomical structure phenotype",
+ "multicellular organism phenotype",
+ "anatomical structure",
"Zebrafish Phenotype",
+ "whole organism",
"anatomical entity phenotype",
- "taxon specific phenotype",
- "anatomical structure",
"whole organism physical object quality, abnormal",
- "multicellular anatomical structure phenotype",
+ "material anatomical entity",
"multicellular organism",
- "independent continuant",
+ "material anatomical entity phenotype",
+ "multicellular anatomical structure",
"continuant",
- "phenotype",
- "multicellular organism phenotype",
- "whole organism morphology, abnormal",
"zebrafish anatomical entity quality, abnormal",
- "specifically dependent continuant",
- "anatomical entity",
- "whole organism quality, abnormal",
- "material entity",
- "material anatomical entity",
- "material anatomical entity phenotype",
- "entity"
+ "independent continuant",
+ "phenotype",
+ "whole organism morphology, abnormal"
],
"has_phenotype_count": 1,
"type": ["SO:0001217"]
@@ -2233,8 +2215,8 @@
}
},
"object_termset": {
- "HP:0002104": { "id": "HP:0002104", "label": "Apnea" },
- "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }
+ "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" },
+ "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }
},
"subject_best_matches": {
"ZP:0001432": {
diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json
index b326eb99c..9c02e16d0 100644
--- a/frontend/fixtures/search.json
+++ b/frontend/fixtures/search.json
@@ -1,7 +1,7 @@
{
"limit": 20,
"offset": 0,
- "total": 122,
+ "total": 128,
"items": [
{
"id": "MONDO:0019391",
@@ -100,7 +100,6 @@
"HP:0000568",
"HP:0000520",
"HP:0000518",
- "HP:0000508",
"HP:0000505",
"HP:0000504",
"HP:0000492",
@@ -150,7 +149,8 @@
"HP:0001871",
"HP:0001172",
"HP:0001053",
- "HP:0001000"
+ "HP:0001000",
+ "HP:0000508"
],
"has_phenotype_label": [
"Duodenal stenosis",
@@ -208,7 +208,6 @@
"Microphthalmia",
"Proptosis",
"Cataract",
- "Ptosis",
"Visual impairment",
"Abnormality of vision",
"Abnormal eyelid morphology",
@@ -258,4022 +257,3863 @@
"Abnormality of blood and blood-forming tissues",
"Abnormal thumb morphology",
"Hypopigmented skin patches",
- "Abnormality of skin pigmentation"
+ "Abnormality of skin pigmentation",
+ "Ptosis"
],
"has_phenotype_closure": [
- "UPHENO:0077885",
- "UPHENO:0077874",
- "UPHENO:0077877",
+ "UPHENO:0041667",
+ "UPHENO:0041644",
+ "HP:0000508",
+ "UPHENO:0041410",
"UPHENO:0077889",
- "UPHENO:0077373",
- "UPHENO:0077391",
+ "CL:0000233",
+ "CL:0000225",
"HP:0001872",
- "HP:0011873",
- "UPHENO:0035147",
- "UBERON:0000178",
- "HP:0032251",
- "UPHENO:0063794",
- "UPHENO:0076675",
- "UPHENO:0077348",
- "CL:0000738",
- "CL:0000255",
+ "CL:0000151",
+ "UPHENO:0077373",
+ "UPHENO:0063787",
+ "CL:0000219",
+ "UPHENO:0087123",
"HP:0001881",
"UPHENO:0063722",
- "UPHENO:0085410",
+ "UPHENO:0063794",
+ "UPHENO:0077348",
+ "UPHENO:0035151",
+ "UPHENO:0085371",
+ "CL:0002242",
+ "UBERON:0000179",
"UPHENO:0088337",
- "UPHENO:0077399",
- "GO:0005623",
- "HP:0003220",
+ "HP:0010987",
+ "UPHENO:0035147",
+ "UPHENO:0004505",
+ "UPHENO:0085410",
+ "HP:0025354",
"HP:0011017",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "HP:0000002",
+ "HP:0001939",
"UPHENO:0075159",
+ "UPHENO:0080351",
"HP:0004322",
- "GO:0034101",
+ "HP:0000002",
+ "GO:0048869",
+ "CL:0000763",
+ "CL:0000232",
+ "CL:0000988",
"HP:0001877",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001924",
"HP:0001903",
"GO:0030218",
+ "GO:0030097",
"CL:0000764",
- "CL:0000219",
- "UBERON:0002371",
- "CL:0001035",
- "GO:0042592",
- "HP:0025461",
- "GO:0048869",
- "UPHENO:0080010",
+ "HP:0005522",
+ "GO:0030099",
+ "UBERON:0015001",
"UPHENO:0080187",
"HP:0002818",
- "UBERON:0015001",
- "UPHENO:0087510",
+ "HP:0006501",
+ "HP:0007364",
+ "HP:0000252",
"UPHENO:0075220",
- "HP:0040195",
- "HP:0002977",
+ "HP:0000240",
+ "GO:0050890",
"HP:0001249",
+ "HP:0001263",
+ "HP:0012758",
+ "HP:0000925",
+ "HP:0010674",
"HP:0200005",
- "UPHENO:0075944",
- "UPHENO:0041462",
- "HP:0007874",
- "UPHENO:0046471",
+ "UPHENO:0046487",
"UPHENO:0046755",
- "UPHENO:0069562",
- "UBERON:0002405",
- "UPHENO:0002948",
+ "HP:0200007",
+ "UPHENO:0046471",
+ "UPHENO:0075198",
+ "UPHENO:0069119",
+ "HP:0012745",
+ "UPHENO:0046753",
+ "UPHENO:0068941",
+ "HP:0032101",
+ "UPHENO:0002263",
+ "HP:0002719",
+ "HP:0010978",
+ "HP:0000010",
+ "CL:0000000",
"UPHENO:0085874",
- "UPHENO:0005636",
- "CL:0000019",
- "UPHENO:0002321",
- "UPHENO:0050101",
- "UPHENO:0008523",
+ "GO:0003006",
+ "CL:0000300",
+ "CL:0000039",
+ "CL:0000413",
+ "CL:0000255",
+ "UPHENO:0005515",
+ "UPHENO:0077418",
"UPHENO:0052965",
+ "UPHENO:0002599",
"UPHENO:0086172",
+ "UPHENO:0005636",
+ "HP:0000027",
+ "UPHENO:0026146",
+ "UPHENO:0086201",
+ "UPHENO:0027017",
+ "UPHENO:0005508",
+ "UPHENO:0080011",
+ "UPHENO:0002321",
+ "HP:0002977",
+ "UPHENO:0005592",
+ "UPHENO:0049701",
+ "UPHENO:0002371",
+ "HP:0012874",
"UBERON:0004054",
- "HP:0008669",
- "GO:0007276",
+ "CL:0000015",
+ "CL:0000408",
"UPHENO:0049940",
- "UPHENO:0049985",
- "UPHENO:0077404",
- "UPHENO:0009020",
- "UPHENO:0049701",
- "UPHENO:0049756",
- "UPHENO:0005508",
- "CL:0000586",
- "GO:0019953",
- "GO:0003006",
- "GO:0048609",
- "UPHENO:0086201",
- "UPHENO:0009163",
- "UPHENO:0077418",
- "HP:0000025",
- "UPHENO:0005651",
- "UPHENO:0085875",
+ "UPHENO:0086198",
+ "UPHENO:0008523",
+ "UPHENO:0005648",
"UPHENO:0078452",
- "UPHENO:0053563",
- "UPHENO:0053561",
+ "GO:0007276",
+ "GO:0007283",
+ "UPHENO:0085875",
+ "UPHENO:0053644",
+ "UPHENO:0053580",
+ "UPHENO:0053647",
"UPHENO:0053571",
+ "UPHENO:0053561",
+ "UPHENO:0002940",
+ "UPHENO:0053563",
"UPHENO:0053572",
+ "HP:0000028",
+ "UBERON:0001556",
+ "HP:0010936",
"UPHENO:0075933",
+ "UBERON:0035651",
+ "UBERON:0000057",
"UBERON:0010418",
+ "HP:0032076",
+ "HP:0000795",
+ "UBERON:0001299",
+ "HP:0011893",
"UBERON:0001333",
- "UBERON:0000056",
"UBERON:0036295",
- "UPHENO:0002806",
"UBERON:0006555",
- "UPHENO:0002636",
- "UPHENO:0076780",
"HP:0000072",
+ "UBERON:0000056",
+ "UPHENO:0002422",
"UPHENO:0002426",
- "HP:0011277",
- "UPHENO:0002377",
"HP:0012211",
- "UPHENO:0003056",
- "HP:0002719",
+ "GO:0005623",
+ "UPHENO:0077404",
+ "UPHENO:0002246",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
"UPHENO:0066972",
- "HP:0000135",
- "HP:0000175",
+ "UPHENO:0066905",
+ "UPHENO:0002206",
+ "UPHENO:0003056",
+ "UPHENO:0033635",
+ "UPHENO:0033589",
"HP:5201015",
- "HP:0000202",
- "UPHENO:0033587",
- "UPHENO:0033612",
- "UPHENO:0049904",
- "UPHENO:0033591",
- "UBERON:0000179",
"UPHENO:0033592",
- "UPHENO:0086173",
- "UPHENO:0063520",
- "HP:0000218",
- "GO:0008152",
+ "UPHENO:0033587",
"UPHENO:0063527",
- "UPHENO:0063524",
- "UPHENO:0001391",
- "UPHENO:0063516",
- "CL:0000329",
- "UPHENO:0063518",
+ "UPHENO:0063515",
"UPHENO:0001392",
- "UPHENO:0056226",
- "UPHENO:0056251",
- "UPHENO:0011845",
- "UPHENO:0088185",
- "HP:0002921",
- "UPHENO:0014865",
- "UPHENO:0014320",
- "UPHENO:0063787",
+ "UPHENO:0063514",
+ "UPHENO:0063518",
+ "UPHENO:0063519",
+ "UPHENO:0063513",
+ "UPHENO:0001252",
+ "UPHENO:0063524",
+ "UPHENO:0011572",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "UPHENO:0056250",
+ "UPHENO:0014291",
"UPHENO:0014761",
+ "UPHENO:0066945",
+ "UPHENO:0014320",
+ "UPHENO:0014351",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0015184",
"UPHENO:0014240",
- "HP:0010987",
"UPHENO:0011531",
- "UPHENO:0056149",
- "UPHENO:0056237",
"HP:0000238",
- "UPHENO:0011536",
- "UBERON:0006314",
- "UPHENO:0011498",
- "UPHENO:0087928",
- "UPHENO:0072266",
- "UPHENO:0072315",
- "UPHENO:0087307",
- "UBERON:1000021",
+ "UPHENO:0011845",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0011557",
"UPHENO:0001231",
- "UPHENO:0072293",
- "UPHENO:0001369",
- "HP:0000286",
- "UBERON:0013766",
- "UBERON:0001084",
- "UBERON:0001712",
- "UPHENO:0072402",
+ "UPHENO:0072255",
+ "CL:0000458",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0002323",
+ "UPHENO:0072345",
+ "UPHENO:0001369",
+ "HP:0000286",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
"UPHENO:0072332",
"UPHENO:0087058",
- "HP:0000316",
- "UPHENO:0002887",
- "UPHENO:0072200",
- "UPHENO:0001584",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0053559",
+ "UPHENO:0087307",
+ "UBERON:0001084",
+ "UBERON:0012180",
+ "UPHENO:0003088",
+ "UPHENO:0076728",
+ "UPHENO:0072293",
+ "UPHENO:0001304",
+ "UBERON:0002470",
"UPHENO:0072195",
- "CL:0002092",
- "UPHENO:0084734",
- "HP:0001999",
+ "UPHENO:0002887",
+ "UPHENO:3000001",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
"UPHENO:0084729",
- "HP:0000324",
- "HP:0000340",
- "UPHENO:0005982",
- "UPHENO:0041083",
- "UPHENO:0002942",
- "HP:0000347",
- "UPHENO:0081786",
- "UPHENO:0002868",
- "UBERON:0012360",
- "HP:0009122",
- "UPHENO:0081141",
- "HP:0009116",
- "UPHENO:0075890",
+ "UPHENO:0041151",
+ "HP:0030791",
+ "UPHENO:0081788",
+ "UPHENO:0002838",
"HP:0011821",
- "UPHENO:0080165",
- "UBERON:0001684",
"UPHENO:0080087",
- "UPHENO:0005437",
+ "UBERON:0001708",
+ "UBERON:0011156",
+ "HP:0008669",
+ "UPHENO:0083646",
+ "UPHENO:0076727",
+ "UBERON:0012476",
+ "HP:0009116",
+ "UBERON:0012360",
+ "UPHENO:0002240",
+ "UPHENO:0052970",
+ "UBERON:0000063",
+ "UPHENO:0005512",
+ "UPHENO:0076675",
+ "HP:0031704",
"UPHENO:0050234",
- "UPHENO:0005517",
- "GO:0007605",
- "UPHENO:0052231",
- "HP:0000415",
- "HP:0000366",
+ "UPHENO:0005513",
+ "UBERON:0002387",
+ "UPHENO:0005069",
+ "HP:0000453",
+ "UBERON:0000981",
"UBERON:0010425",
- "UPHENO:0002906",
- "UPHENO:0087894",
- "UBERON:0002268",
- "UPHENO:0072414",
- "UPHENO:0063588",
- "UBERON:0005725",
- "UBERON:0000003",
"UBERON:0005726",
- "UPHENO:0005071",
+ "UPHENO:0005230",
+ "UBERON:0000004",
"HP:0005105",
"UPHENO:0003048",
- "UBERON:0012430",
- "UPHENO:0031123",
- "UPHENO:0086198",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0031142",
- "UPHENO:0004764",
- "UPHENO:0076704",
- "HP:0002692",
- "UPHENO:0041591",
- "UPHENO:0041079",
+ "UPHENO:0063595",
+ "UPHENO:0031129",
+ "UPHENO:0076765",
+ "UBERON:0000964",
+ "HP:0100691",
+ "HP:0010469",
+ "UPHENO:0041083",
+ "UPHENO:0081700",
"UPHENO:0031226",
+ "UPHENO:0031125",
+ "UBERON:0005173",
+ "UPHENO:0031144",
"UBERON:0010409",
- "UPHENO:0075877",
- "UBERON:0000964",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0041053",
- "UPHENO:0003395",
+ "UBERON:0004086",
+ "UBERON:0012430",
+ "UPHENO:0031142",
+ "UBERON:0006800",
+ "UPHENO:0052161",
+ "UBERON:0004716",
+ "HP:0000504",
"UBERON:0000015",
- "HP:0000549",
- "HP:0000486",
- "CL:0000151",
+ "UPHENO:0052162",
+ "UPHENO:0002377",
+ "UPHENO:0086824",
+ "UPHENO:0005071",
"UPHENO:0050620",
- "UPHENO:0052159",
- "UPHENO:0052164",
+ "UPHENO:0004621",
"UPHENO:0052165",
- "UPHENO:0052162",
- "HP:0000505",
- "HP:0000504",
- "UPHENO:0041410",
- "HP:0000517",
- "UPHENO:0084816",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "HP:0000025",
+ "UBERON:0005389",
"HP:0000518",
- "HP:0100886",
- "UPHENO:0069523",
- "HP:0100887",
- "HP:0000568",
- "UPHENO:0068914",
- "HP:0000582",
- "HP:0012758",
- "HP:0200006",
- "UBERON:0001711",
- "HP:0008050",
+ "UPHENO:0004765",
+ "UPHENO:0004881",
+ "HP:0030084",
+ "UPHENO:0084815",
+ "UPHENO:0087578",
+ "UPHENO:0005116",
"UPHENO:0076761",
- "UPHENO:0003085",
- "UPHENO:0002301",
- "UPHENO:0002403",
- "HP:0007670",
- "UPHENO:0015184",
- "UPHENO:0002386",
- "HP:0001751",
+ "HP:0000520",
+ "UBERON:0003840",
"UBERON:0035639",
- "HP:0012373",
- "UPHENO:0081424",
- "UPHENO:0078736",
- "UPHENO:0002240",
- "HP:0012547",
- "HP:0031704",
- "NBO:0000416",
- "UPHENO:0002211",
+ "UPHENO:0087894",
+ "UPHENO:0046484",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0088319",
+ "UPHENO:0075878",
+ "UPHENO:0003116",
+ "HP:0000315",
+ "UPHENO:0002386",
+ "UPHENO:0014285",
+ "UPHENO:0004173",
+ "NBO:0000417",
+ "NBO:0000411",
+ "UBERON:0002495",
+ "UBERON:0000965",
+ "UPHENO:0001003",
+ "UBERON:0005623",
+ "UPHENO:0079837",
+ "UPHENO:0004486",
+ "UPHENO:0002430",
"UPHENO:0079828",
- "GO:0048872",
- "UPHENO:0002467",
- "NBO:0000444",
- "HP:0011389",
- "UPHENO:0002955",
- "UPHENO:0002687",
- "HP:0000130",
- "UBERON:0003100",
- "UPHENO:0005170",
- "UPHENO:0002598",
- "UPHENO:0072255",
- "HP:0000813",
+ "HP:0008678",
+ "UPHENO:0012440",
+ "UPHENO:0002301",
+ "UBERON:0000993",
+ "UPHENO:0005022",
+ "UPHENO:0050625",
+ "UPHENO:0002906",
+ "HP:0010460",
"UPHENO:0002977",
+ "UPHENO:0033596",
+ "UBERON:0004768",
+ "HP:0011849",
+ "UPHENO:0002955",
+ "BFO:0000003",
+ "HP:0000008",
"UPHENO:0076766",
- "HP:0000812",
- "UBERON:0004175",
- "UBERON:0003134",
- "UBERON:0000993",
- "UPHENO:0072264",
+ "UPHENO:0086635",
+ "UPHENO:0004172",
+ "UPHENO:0004709",
+ "UPHENO:0087806",
+ "HP:0002245",
+ "UPHENO:0005170",
+ "UBERON:0003975",
+ "UBERON:0004053",
"UBERON:0013515",
- "UPHENO:0035151",
- "UPHENO:0087974",
- "HP:0000008",
- "UPHENO:0088319",
- "UBERON:0004092",
+ "HP:0031105",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UPHENO:0077877",
+ "UPHENO:0002687",
+ "UPHENO:0002883",
+ "UPHENO:0076748",
+ "UPHENO:0041664",
+ "UPHENO:0004434",
+ "UPHENO:0002985",
"UPHENO:0075995",
- "UBERON:0005897",
"UPHENO:0003069",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:5106048",
- "HP:0011893",
+ "GO:0007399",
+ "UBERON:0010688",
+ "HP:0000316",
"UBERON:0012151",
- "UBERON:0004249",
- "UPHENO:0011572",
"HP:0001172",
- "UBERON:0003620",
- "UBERON:0012358",
- "UPHENO:0063514",
- "NBO:0000313",
- "UPHENO:0084457",
- "UPHENO:0049708",
- "HP:0100022",
- "UPHENO:0002263",
- "NBO:0000389",
- "GO:0050905",
- "NBO:0000338",
- "GO:0050882",
- "UPHENO:0053500",
- "UPHENO:0079826",
"UPHENO:0051276",
- "UPHENO:0055024",
- "GO:0048871",
+ "NBO:0000389",
+ "UPHENO:0002875",
+ "UBERON:0001558",
+ "GO:0050879",
+ "UPHENO:0003085",
"UPHENO:0049622",
"NBO:0000001",
- "UPHENO:0066945",
- "UPHENO:0011557",
+ "UPHENO:0002941",
"NBO:0000403",
- "UPHENO:0049699",
+ "UPHENO:0087232",
+ "UBERON:0000474",
+ "UPHENO:0050875",
+ "UBERON:0001801",
+ "UPHENO:0050613",
+ "HP:0040195",
"UPHENO:0050079",
- "GO:0003008",
- "GO:0007610",
- "UBERON:0002107",
- "HP:0002012",
- "UPHENO:0002529",
- "UBERON:0002530",
- "UPHENO:0004061",
- "UBERON:0002368",
- "UBERON:0002365",
- "HP:0009118",
- "UPHENO:0005512",
- "UBERON:0006925",
- "UBERON:0001846",
- "UBERON:0000949",
- "UBERON:0002423",
- "UPHENO:0003405",
+ "GO:0050882",
+ "UPHENO:0049708",
+ "UPHENO:0083263",
+ "UBERON:0005725",
+ "UBERON:0015003",
+ "GO:0050877",
+ "UBERON:0000916",
+ "GO:0050881",
+ "UPHENO:0076780",
+ "UBERON:0003657",
+ "UPHENO:0049586",
+ "UBERON:0002330",
"UPHENO:0002780",
- "UPHENO:0053566",
- "UPHENO:0050106",
+ "UPHENO:0003405",
+ "UPHENO:0002715",
+ "UPHENO:0003423",
+ "UPHENO:0050068",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0076740",
+ "UPHENO:0005982",
+ "UBERON:0001445",
+ "UPHENO:0080393",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UBERON:0012359",
+ "HP:0000813",
+ "HP:0000415",
+ "UBERON:0002082",
+ "UPHENO:0000543",
+ "UPHENO:0002954",
+ "HP:0004209",
+ "UBERON:0001463",
+ "UPHENO:0085302",
"UPHENO:0052178",
+ "UPHENO:0000541",
+ "GO:0060429",
+ "UPHENO:0005517",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
"UPHENO:0052160",
- "HP:0008373",
- "UPHENO:0050034",
- "GO:0009605",
+ "HP:0100887",
+ "UBERON:0004249",
+ "UPHENO:0085881",
+ "UPHENO:0081314",
"UPHENO:0005642",
- "UPHENO:0052778",
- "UPHENO:0005433",
- "UPHENO:0005319",
- "UPHENO:0053330",
- "UPHENO:0005647",
- "HP:0020047",
- "HP:0001510",
"HP:0001511",
- "UPHENO:0005597",
- "UPHENO:0052694",
- "UPHENO:0053456",
- "UPHENO:0087806",
- "UPHENO:0002712",
- "UPHENO:0076794",
- "HP:0010866",
- "UPHENO:0088162",
- "UPHENO:0053559",
+ "UPHENO:0086122",
+ "UPHENO:0087858",
+ "UBERON:5006052",
+ "HP:0000812",
"UPHENO:0033610",
- "UBERON:0003697",
- "HP:0001551",
- "HP:0003549",
- "UPHENO:0075843",
- "HP:0000277",
- "HP:0000481",
- "UPHENO:0041395",
"UPHENO:0033615",
- "UPHENO:0086610",
- "UPHENO:0033616",
- "UPHENO:0075852",
- "UBERON:0000463",
- "UBERON:0000173",
- "UBERON:0000323",
- "CL:0000457",
- "UPHENO:0075949",
+ "UPHENO:0075843",
+ "UPHENO:0088116",
+ "HP:0001551",
+ "UBERON:0003697",
+ "UPHENO:0002725",
+ "UPHENO:0075804",
+ "UPHENO:0002564",
+ "UPHENO:0002682",
+ "UBERON:0002355",
+ "HP:0001537",
+ "HP:0012848",
+ "UBERON:0008114",
+ "HP:0004298",
+ "UPHENO:0004900",
"UPHENO:0002532",
- "UPHENO:0033559",
- "HP:0005120",
- "UPHENO:0086857",
- "HP:0001671",
- "HP:0011994",
- "UBERON:5101463",
- "UBERON:0002085",
+ "UBERON:0000463",
+ "HP:0001562",
+ "HP:0001631",
+ "UBERON:0012241",
+ "HP:0040064",
+ "UBERON:0004121",
"UPHENO:0003827",
- "UBERON:0002099",
- "HP:0010978",
- "UBERON:0035554",
- "UPHENO:0033596",
- "UPHENO:0086854",
- "UPHENO:0002579",
- "UPHENO:0000983",
- "UPHENO:0015291",
- "HP:0005561",
- "UPHENO:0001031",
- "UPHENO:0084511",
- "UPHENO:0015282",
- "HP:0030669",
- "UPHENO:0084482",
- "UPHENO:0001101",
- "UPHENO:0084489",
- "UPHENO:0003815",
+ "HP:0011994",
+ "UPHENO:0086857",
"UBERON:0002081",
- "UPHENO:0075208",
+ "UBERON:0002085",
+ "UPHENO:0086863",
+ "UPHENO:0002642",
+ "UBERON:0015410",
"HP:0011563",
- "UBERON:0002094",
- "HP:0001710",
- "UPHENO:0076781",
- "HP:0000520",
- "UPHENO:0087022",
+ "UBERON:0000473",
+ "HP:0011545",
"UPHENO:0066927",
- "UPHENO:0066908",
- "UPHENO:0002393",
+ "UPHENO:0002308",
+ "HP:0025031",
+ "UPHENO:0002292",
+ "HP:0200006",
+ "UPHENO:0066903",
+ "HP:0030669",
+ "UPHENO:0002839",
"UPHENO:0066913",
+ "NBO:0000338",
+ "UPHENO:0002393",
+ "HP:0003026",
+ "UBERON:0015024",
+ "HP:0008373",
+ "UPHENO:0075997",
+ "UPHENO:0002872",
+ "UPHENO:0053456",
+ "UPHENO:0087022",
+ "UBERON:0001710",
+ "UBERON:0000003",
"UPHENO:0004724",
- "UPHENO:0067095",
- "UPHENO:0002292",
- "UBERON:0018260",
- "UBERON:0002349",
+ "HP:0000218",
+ "UPHENO:0004802",
+ "UPHENO:0004513",
+ "UPHENO:0014292",
+ "UPHENO:0069194",
+ "UPHENO:0002802",
"UPHENO:0033581",
- "UPHENO:0033593",
- "HP:0001643",
- "UPHENO:0079837",
- "UPHENO:0015331",
- "NBO:0000411",
- "UPHENO:0087309",
- "HP:0001924",
- "HP:0001637",
- "UPHENO:0087018",
- "UBERON:0001359",
+ "NBO:0000444",
+ "HP:0011603",
+ "UPHENO:0076736",
"UBERON:0018674",
- "UPHENO:0033602",
- "CL:0000413",
- "UPHENO:0004513",
+ "UPHENO:0081313",
+ "HP:0009118",
+ "UBERON:0001441",
+ "UPHENO:0050106",
+ "UBERON:0005440",
+ "UPHENO:0087510",
+ "UBERON:5006048",
+ "UPHENO:0072264",
+ "UBERON:0011695",
+ "UPHENO:0002942",
+ "UBERON:0001968",
+ "HP:0000069",
"UPHENO:0005134",
- "UBERON:0002201",
- "CL:0000081",
- "UBERON:0003513",
- "CL:0000039",
+ "UPHENO:0015324",
+ "HP:0000568",
+ "UPHENO:0002378",
+ "UPHENO:0033580",
+ "UBERON:0015228",
+ "UPHENO:0015308",
+ "UBERON:0006876",
"UBERON:0003498",
- "UBERON:0011695",
- "UBERON:0004716",
- "UBERON:0005985",
+ "UPHENO:0002948",
+ "HP:0000347",
+ "UPHENO:0080352",
+ "UPHENO:0033584",
+ "UPHENO:0087349",
"UPHENO:0033598",
+ "UPHENO:0002765",
+ "UPHENO:0069064",
+ "UPHENO:0015281",
+ "UPHENO:0087974",
+ "HP:0000365",
"UPHENO:0033579",
- "UPHENO:0015324",
- "UPHENO:0015277",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "HP:0011603",
- "UBERON:0003978",
- "HP:0000010",
- "UBERON:0035553",
- "UPHENO:0004405",
- "UPHENO:0002656",
- "UBERON:0007100",
- "HP:0001627",
- "UPHENO:0005172",
- "UPHENO:0086614",
- "UPHENO:0076810",
+ "HP:0000478",
"UPHENO:0005177",
- "UBERON:0002137",
- "UPHENO:0087612",
+ "UBERON:0015025",
+ "UBERON:0004145",
+ "UPHENO:0063621",
+ "HP:0000175",
+ "UPHENO:0033609",
+ "UBERON:0000946",
+ "UPHENO:0046455",
"UPHENO:0086866",
"UPHENO:0004469",
- "UBERON:0002082",
- "UBERON:0005623",
- "UBERON:0005337",
- "UPHENO:0086858",
- "UBERON:0000965",
- "UPHENO:0050875",
"UPHENO:0004831",
- "HP:0032076",
- "UBERON:0000946",
- "UPHENO:0003828",
- "UBERON:0002084",
+ "HP:0004348",
+ "UPHENO:0046465",
"UPHENO:0076743",
- "UPHENO:0076809",
- "HP:0000047",
- "UPHENO:0050625",
- "UPHENO:0086116",
+ "UBERON:0002099",
+ "UPHENO:0049703",
+ "UBERON:0004151",
+ "UPHENO:0004827",
+ "HP:0004378",
+ "UPHENO:0086614",
+ "UPHENO:0086858",
+ "HP:0001627",
+ "UBERON:0007100",
+ "UBERON:0002137",
+ "UBERON:0005337",
+ "UPHENO:0003110",
+ "HP:0011121",
+ "UBERON:0002084",
+ "UPHENO:0087892",
+ "HP:0006503",
+ "UBERON:0000948",
+ "UPHENO:0003828",
+ "UPHENO:0033568",
+ "HP:0007874",
+ "UBERON:0008202",
+ "UPHENO:0087070",
+ "UBERON:0001555",
+ "UBERON:0003978",
+ "UPHENO:0056242",
+ "UBERON:0003519",
+ "HP:0000539",
+ "UPHENO:0069523",
"UPHENO:0005118",
- "UPHENO:0072185",
- "HP:0001679",
+ "UPHENO:0076809",
+ "UPHENO:0075219",
+ "HP:0001763",
"UPHENO:0041565",
+ "UPHENO:0041203",
+ "UPHENO:0002656",
+ "HP:0001347",
+ "UPHENO:0041369",
"UPHENO:0041098",
- "HP:0001763",
- "UBERON:0035133",
- "UPHENO:0052675",
- "UPHENO:0078347",
+ "GO:0009888",
+ "UPHENO:0041041",
"UPHENO:0084767",
- "HP:0001654",
- "UPHENO:0078246",
- "GO:0048468",
"HP:0001770",
- "UPHENO:0078375",
- "HP:0001824",
- "UPHENO:0082794",
- "UPHENO:0010799",
+ "UPHENO:0078347",
"HP:0004325",
- "UPHENO:0054304",
- "HP:0004323",
+ "UPHENO:0086855",
+ "UBERON:0034921",
+ "HP:0001824",
+ "UPHENO:0002637",
+ "UPHENO:0010850",
+ "UPHENO:0004405",
"UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UPHENO:0002430",
- "UBERON:0010191",
+ "GO:0007605",
+ "UBERON:0000072",
+ "UPHENO:0082794",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0003834",
+ "UPHENO:0010808",
"HP:0001507",
- "UBERON:0000073",
- "HP:0100691",
- "UBERON:0003129",
- "UBERON:0010222",
- "UBERON:0000947",
+ "HP:0002683",
"UPHENO:0002700",
- "UPHENO:0002219",
- "UPHENO:0075804",
- "UPHENO:0002323",
"UPHENO:0002815",
- "GO:0050877",
- "HP:0007700",
- "UPHENO:0069119",
- "UBERON:0002330",
- "UBERON:0000047",
- "UPHENO:0003005",
- "UPHENO:0076744",
- "UBERON:0011892",
- "UPHENO:0005573",
- "HP:0010461",
- "UBERON:0005179",
- "UPHENO:0002546",
- "UPHENO:0053647",
- "UPHENO:0087501",
- "UPHENO:0046487",
- "UPHENO:0071334",
- "UPHENO:0046403",
- "UPHENO:0041151",
- "UPHENO:0004881",
- "UPHENO:0088049",
+ "UBERON:0012240",
+ "UPHENO:0004625",
+ "UPHENO:0002219",
+ "HP:0002251",
+ "UPHENO:0004704",
+ "UPHENO:0087814",
+ "UPHENO:0049904",
+ "UBERON:0002530",
+ "UBERON:0002384",
+ "UBERON:0010913",
+ "UPHENO:0076799",
+ "HP:0000130",
+ "UPHENO:0081344",
+ "UPHENO:0005106",
+ "UPHENO:0003001",
+ "UPHENO:0003098",
+ "UBERON:0005451",
+ "HP:0000290",
+ "UBERON:0003457",
+ "UBERON:0004572",
+ "UBERON:0011300",
+ "UBERON:0003128",
+ "UBERON:0011137",
+ "UPHENO:0055094",
+ "HP:0430000",
+ "UPHENO:0087530",
+ "UPHENO:0088115",
+ "UPHENO:0002736",
+ "UBERON:0006925",
+ "UBERON:0001809",
+ "UPHENO:0002772",
+ "HP:0000929",
+ "GO:0009605",
+ "UPHENO:0005008",
+ "HP:0011277",
+ "HP:0001646",
+ "UBERON:0003113",
+ "UBERON:0000982",
+ "UBERON:0007914",
"UBERON:0004766",
- "UPHENO:0087597",
- "HP:0008055",
- "UPHENO:0076957",
- "UPHENO:0005029",
- "HP:0000377",
- "HP:0009115",
- "HP:0000356",
- "GO:0050953",
- "UPHENO:0004494",
- "UPHENO:0063513",
- "UPHENO:0056230",
- "UBERON:0002104",
- "UPHENO:0046505",
- "UBERON:0015021",
- "UBERON:0007375",
- "UPHENO:0031144",
- "HP:0001384",
- "UPHENO:0076800",
- "UPHENO:0056333",
- "UPHENO:0003227",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0002891",
- "UPHENO:0002550",
- "UPHENO:0081570",
- "UPHENO:0001303",
- "UPHENO:0035160",
- "UPHENO:0086824",
- "UPHENO:0002875",
- "UPHENO:0076729",
- "UPHENO:0076786",
- "UPHENO:0076718",
- "HP:0001636",
- "HP:0000152",
- "UPHENO:0003514",
+ "UBERON:0007842",
+ "HP:0000951",
+ "UBERON:0019264",
+ "UPHENO:0002694",
+ "UPHENO:0082900",
+ "UPHENO:0041395",
+ "UBERON:0001870",
+ "UPHENO:0046403",
+ "UBERON:0000209",
+ "UBERON:0008200",
+ "GO:0048872",
+ "UBERON:0002020",
"UPHENO:0003034",
- "UBERON:0001690",
- "UBERON:0034921",
- "UPHENO:0002838",
- "UPHENO:0002764",
- "UPHENO:0002586",
- "UBERON:0000160",
- "UPHENO:0002828",
- "UBERON:0002553",
- "UBERON:0007779",
- "UPHENO:0086091",
- "UPHENO:0071337",
- "UPHENO:0002818",
- "HP:0000359",
- "UPHENO:0077800",
- "HP:0006496",
- "UPHENO:0055092",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "UPHENO:0081314",
- "HP:0001197",
- "UPHENO:0002962",
- "UBERON:0004529",
- "UBERON:0001785",
- "UPHENO:0004520",
- "HP:0002023",
- "UPHENO:0003799",
- "UBERON:0010230",
- "UBERON:0000011",
- "UPHENO:0080209",
- "UBERON:0000033",
- "GO:0022414",
- "UPHENO:0002963",
- "UPHENO:0002406",
- "UPHENO:0088088",
- "UPHENO:0003019",
- "UPHENO:0001304",
- "UBERON:0008907",
- "UPHENO:0002643",
- "UPHENO:9002003",
- "UPHENO:0004523",
- "HP:0008056",
- "UPHENO:0003104",
- "UBERON:0000970",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0001733",
+ "UBERON:0011892",
+ "UBERON:0000956",
+ "UBERON:0005172",
+ "HP:0000324",
+ "UBERON:0016526",
+ "UBERON:0002616",
+ "UPHENO:0087531",
+ "UPHENO:0084465",
+ "HP:0003549",
+ "UPHENO:0004149",
+ "UPHENO:0002730",
+ "UPHENO:0005597",
+ "UBERON:0002405",
"UBERON:0000020",
- "UBERON:0001555",
- "UPHENO:0087433",
- "GO:0009987",
- "UPHENO:0002552",
- "UBERON:0012150",
- "HP:0002683",
- "HP:0010469",
- "HP:0045058",
- "HP:0000508",
- "UPHENO:0002269",
- "UPHENO:0002378",
- "UPHENO:0002638",
- "HP:0011875",
- "UPHENO:0002599",
+ "UPHENO:0087214",
+ "HP:0012759",
+ "UBERON:0005944",
+ "UBERON:0002398",
+ "UBERON:0002090",
+ "UBERON:0004339",
+ "UPHENO:0002646",
+ "UBERON:0016525",
+ "UBERON:0001530",
+ "UBERON:0002100",
+ "HP:0001197",
+ "UBERON:0000203",
+ "UPHENO:0075943",
+ "UPHENO:0041053",
+ "UBERON:0000073",
+ "HP:0000953",
+ "UPHENO:0087518",
+ "UPHENO:0005025",
+ "UPHENO:0003104",
+ "UBERON:0000160",
+ "UPHENO:0076730",
+ "UPHENO:0003004",
+ "HP:0011218",
"UPHENO:0033607",
- "HP:0000707",
- "HP:0001939",
- "HP:0030084",
- "HP:0002973",
- "UPHENO:0063621",
- "NBO:0000417",
- "UBERON:0001424",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0002767",
- "UPHENO:0002732",
- "UBERON:0004710",
+ "UPHENO:0075944",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "UPHENO:0074229",
+ "UBERON:0002368",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "GO:0008152",
+ "UPHENO:0074228",
+ "HP:0012243",
+ "UPHENO:0002971",
+ "UPHENO:0074230",
+ "UPHENO:0063562",
+ "UPHENO:0004910",
+ "UPHENO:0086644",
+ "UBERON:0005897",
"UBERON:0005983",
- "UPHENO:0002751",
- "UPHENO:0002880",
- "HP:0002817",
- "GO:0030154",
- "UBERON:0008962",
- "UBERON:0007272",
- "UBERON:0003462",
- "UBERON:0007830",
- "HP:0040072",
- "UPHENO:0087518",
- "UBERON:0003466",
- "UPHENO:0002308",
- "HP:0004097",
- "UBERON:0000473",
- "UPHENO:0004595",
- "BFO:0000020",
- "CL:0000225",
- "UPHENO:0041664",
- "UPHENO:0000543",
- "UBERON:0002102",
- "UBERON:0010708",
- "UPHENO:0003103",
- "UPHENO:0002916",
- "UBERON:0001950",
- "UPHENO:0002206",
- "UPHENO:0071310",
- "UBERON:0001457",
- "UPHENO:0080377",
- "UPHENO:3000007",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "UBERON:0002075",
- "UPHENO:0086633",
- "GO:0050879",
- "UBERON:0001801",
- "NCBITaxon:6072",
- "UPHENO:0003066",
- "UPHENO:0046753",
- "UBERON:0000055",
- "UBERON:0015410",
- "UPHENO:0005986",
- "UBERON:0002100",
- "UBERON:0002428",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0076776",
- "UPHENO:0002576",
- "UPHENO:0050622",
- "UBERON:0010428",
- "UPHENO:0072263",
- "UBERON:0001637",
- "HP:0010293",
"UBERON:0001638",
- "UPHENO:0071317",
- "UPHENO:0002790",
- "UBERON:0003278",
- "UBERON:0004088",
- "UBERON:0004768",
- "UBERON:0011595",
- "GO:0030097",
- "UPHENO:0088116",
- "UBERON:0004537",
- "UPHENO:0004173",
- "UPHENO:0084815",
- "UBERON:0003920",
- "UPHENO:0002648",
- "HP:0001626",
- "UPHENO:0031254",
- "UBERON:0005881",
- "UBERON:0004535",
- "UBERON:0011137",
- "UPHENO:0069254",
- "GO:0060562",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0006824",
- "GO:0035148",
- "UBERON:5006048",
- "UBERON:0004339",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UPHENO:0086589",
- "UBERON:0004921",
- "UBERON:0012357",
- "UPHENO:0076779",
- "UPHENO:0004909",
- "UPHENO:0046554",
- "UPHENO:0067030",
- "UBERON:0007798",
- "UPHENO:0033568",
- "GO:0032501",
- "UBERON:0003834",
- "HP:0000079",
- "UBERON:0007811",
- "UPHENO:0080202",
- "UPHENO:0071308",
- "HP:0000478",
- "UPHENO:0081603",
- "UBERON:0000475",
- "UPHENO:0075998",
- "UPHENO:0078267",
- "UPHENO:0087427",
- "HP:0100867",
- "UBERON:0013701",
- "UPHENO:0003093",
- "CL:0000000",
- "UBERON:0001981",
- "HP:0000593",
- "UPHENO:0079876",
- "UBERON:0005956",
- "UPHENO:0002803",
- "UBERON:0000916",
- "UBERON:5102544",
- "UBERON:0010364",
- "UBERON:0013702",
- "UBERON:0015228",
- "UPHENO:0069046",
- "UBERON:0000483",
- "UPHENO:0003094",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0002909",
- "UPHENO:0087214",
- "UPHENO:0003055",
- "UBERON:0005162",
- "HP:0002245",
- "HP:0000032",
- "HP:0001537",
- "UPHENO:0049874",
- "UPHENO:0041821",
- "HP:0012243",
- "UBERON:0002417",
- "HP:0004298",
- "UBERON:0034929",
- "UPHENO:0002642",
- "UPHENO:0002907",
- "HP:0000153",
- "UPHENO:0002600",
- "UPHENO:0076799",
- "UPHENO:0066905",
- "HP:0025015",
- "UPHENO:0087814",
- "UBERON:0008811",
- "HP:0000271",
- "HP:0001549",
- "UBERON:0004053",
- "HP:0002650",
- "UBERON:0035651",
- "HP:0031826",
- "UPHENO:0003058",
- "HP:0000036",
- "UPHENO:0002597",
- "UBERON:0001708",
- "HP:0008053",
- "UPHENO:0002697",
- "UBERON:0012152",
- "HP:0000539",
- "UPHENO:0002448",
- "UBERON:0003519",
- "UBERON:0001703",
- "HP:0012210",
- "UPHENO:0002896",
- "UPHENO:0076722",
- "UPHENO:0002427",
- "UBERON:0001043",
- "UPHENO:0002523",
- "UPHENO:0004142",
- "CL:0000458",
- "HP:0000069",
- "UBERON:0004375",
- "UPHENO:0033635",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012140",
- "HP:0000172",
- "UPHENO:0002983",
- "GO:0009792",
- "UPHENO:0014292",
- "UPHENO:0002899",
- "UBERON:0011249",
- "UBERON:0010313",
- "HP:0012874",
- "UPHENO:0002957",
- "UPHENO:0002856",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UPHENO:0055094",
- "UPHENO:0002782",
- "HP:0000553",
- "UPHENO:0002861",
- "UPHENO:0018424",
- "UPHENO:0003044",
- "UPHENO:0078081",
- "UBERON:0000376",
- "UPHENO:0004172",
- "UBERON:0004572",
- "UPHENO:0072345",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002758",
- "HP:0000144",
- "UPHENO:3000004",
- "UPHENO:0086700",
- "NCBITaxon:2759",
- "UPHENO:0014971",
- "UBERON:0003464",
- "HP:0012130",
- "UPHENO:0080369",
- "HP:0000924",
- "UBERON:0010371",
- "UBERON:0003103",
- "UBERON:0001299",
- "UBERON:0002544",
- "HP:0012733",
- "UPHENO:0079839",
- "UBERON:0013768",
- "UPHENO:0002969",
- "UBERON:0004765",
- "HP:0000598",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0012718",
- "HP:0000001",
- "UBERON:0015003",
- "UBERON:0003128",
- "UPHENO:0080011",
- "UPHENO:0015308",
- "UPHENO:0041369",
- "UBERON:0001440",
- "UPHENO:0054970",
- "HP:0012759",
- "UPHENO:0002716",
- "UPHENO:0004507",
- "UPHENO:0041146",
- "UBERON:0002217",
- "UPHENO:0086855",
- "UPHENO:0087585",
- "UPHENO:0002554",
- "HP:0012252",
- "UBERON:0000466",
+ "HP:0002023",
+ "NBO:0000388",
+ "UPHENO:0002812",
+ "UPHENO:0063529",
+ "UBERON:0001015",
+ "UPHENO:0074245",
+ "UPHENO:0074237",
+ "UPHENO:0088047",
+ "UBERON:0005282",
+ "UPHENO:0004061",
+ "UBERON:0003947",
+ "UPHENO:0002403",
+ "UPHENO:0081598",
+ "UPHENO:0002385",
+ "UPHENO:0001340",
+ "UPHENO:0001570",
+ "UPHENO:0001147",
+ "UPHENO:0002830",
+ "UPHENO:0001303",
+ "UBERON:0001703",
+ "UPHENO:0004788",
+ "UPHENO:0081435",
+ "UBERON:0001272",
+ "UPHENO:0005994",
+ "UBERON:0005358",
+ "UBERON:0000955",
+ "UPHENO:0056150",
+ "UPHENO:0002761",
+ "UBERON:0005281",
+ "UPHENO:0001004",
+ "UPHENO:0077399",
+ "HP:0002119",
+ "UPHENO:0004956",
+ "GO:0030154",
+ "UPHENO:0087203",
+ "UPHENO:0001134",
+ "UPHENO:0001440",
+ "HP:0410008",
+ "GO:0060004",
+ "UPHENO:0005046",
+ "HP:0011446",
+ "UPHENO:0052231",
+ "UPHENO:0002598",
+ "UBERON:0003338",
+ "UBERON:0004907",
+ "UBERON:0001460",
+ "UBERON:0000059",
+ "HP:0000811",
+ "HP:0002250",
+ "UPHENO:0009020",
+ "UBERON:0001716",
+ "UBERON:0000011",
+ "UPHENO:0076773",
+ "HP:0025028",
+ "UBERON:0000922",
+ "UBERON:0005174",
+ "HP:0002414",
+ "UBERON:0004175",
+ "HP:0045005",
+ "UPHENO:0005104",
+ "UPHENO:0080300",
+ "UPHENO:0051077",
+ "UPHENO:0002767",
"HP:0410043",
- "UPHENO:0088140",
- "UBERON:0004121",
- "UPHENO:0082875",
- "HP:0040071",
- "UPHENO:0086122",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "UPHENO:0004386",
- "UPHENO:0081575",
- "UPHENO:0076748",
- "UPHENO:0076735",
- "UPHENO:0002802",
- "UPHENO:0005206",
- "UPHENO:0004503",
- "UBERON:0017672",
+ "UPHENO:0086610",
+ "UPHENO:0049623",
+ "UPHENO:0072359",
+ "HP:0004362",
+ "UPHENO:0002864",
+ "GO:0050954",
+ "UPHENO:0069562",
+ "UPHENO:0076744",
+ "UBERON:0001137",
+ "UPHENO:0002927",
+ "UPHENO:0051003",
+ "UPHENO:0033626",
+ "UBERON:0005423",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "UPHENO:0041525",
+ "GO:0001843",
+ "GO:0043009",
+ "GO:0048856",
+ "HP:0001637",
+ "GO:0009653",
+ "GO:0032502",
+ "UPHENO:0003038",
+ "UBERON:0012152",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "HP:0100886",
+ "GO:0014020",
+ "UPHENO:0041037",
+ "GO:0032501",
+ "GO:0001841",
+ "UPHENO:0072266",
"UBERON:0008001",
- "UBERON:0004923",
- "UPHENO:0066903",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "HP:0000553",
+ "UBERON:0000483",
+ "UBERON:0001017",
+ "GO:0072175",
+ "UPHENO:0031227",
+ "GO:0060562",
+ "GO:0016331",
+ "HP:0100022",
+ "UPHENO:0086150",
+ "HP:0002664",
+ "GO:0002009",
+ "HP:0000356",
+ "GO:0009792",
+ "GO:0035295",
+ "UBERON:0006311",
+ "UPHENO:0063588",
+ "GO:0035148",
+ "GO:0035239",
+ "UPHENO:0053330",
+ "UBERON:0010358",
+ "UPHENO:0046554",
+ "UBERON:0001805",
+ "UPHENO:0002538",
+ "UBERON:0003914",
+ "UBERON:0012140",
+ "UPHENO:0002992",
+ "GO:0050896",
+ "UPHENO:0075655",
+ "UPHENO:0041033",
+ "UPHENO:0004386",
+ "UBERON:0001005",
+ "UBERON:0000117",
+ "UBERON:0011158",
+ "UBERON:0000065",
+ "UPHENO:0031124",
+ "UBERON:0007196",
+ "UPHENO:0076723",
+ "UPHENO:0002818",
+ "HP:0002778",
+ "UPHENO:0004536",
+ "UBERON:0011216",
+ "UBERON:5001463",
+ "HP:0002795",
+ "UPHENO:0076752",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0004908",
+ "UPHENO:0086088",
+ "UPHENO:0075175",
+ "UPHENO:0002352",
+ "UPHENO:0005647",
+ "UBERON:0002075",
+ "UPHENO:0002792",
+ "UBERON:0005181",
+ "UBERON:0001043",
+ "UPHENO:0087433",
"UPHENO:0076785",
- "UPHENO:0004709",
- "UBERON:0004756",
- "UBERON:0010543",
- "UPHENO:0002905",
- "HP:0010972",
- "UBERON:0002091",
- "HP:0010161",
- "UBERON:0004120",
- "UPHENO:0001355",
- "UBERON:0000026",
- "HP:0000364",
- "UPHENO:0005022",
- "UBERON:0015030",
- "HP:0002007",
- "HP:0000118",
- "HP:0032039",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UBERON:0001556",
- "UPHENO:0004757",
- "UBERON:0001466",
- "UPHENO:0084763",
- "UPHENO:0002553",
- "UPHENO:0075919",
- "UPHENO:0081313",
- "UBERON:0015022",
+ "HP:0002575",
+ "HP:0000505",
+ "UPHENO:0085876",
+ "UPHENO:0002634",
+ "HP:0000047",
+ "UBERON:0022303",
+ "UBERON:0005178",
+ "HP:0002086",
+ "UBERON:0002513",
+ "HP:0000377",
+ "UPHENO:0031179",
+ "UPHENO:0003084",
+ "UBERON:0003126",
+ "UBERON:0000383",
+ "UPHENO:0051150",
+ "UBERON:0001684",
+ "HP:0009826",
+ "UBERON:0001130",
+ "UBERON:0001004",
+ "UPHENO:0002269",
+ "UPHENO:0031254",
+ "UBERON:0000915",
+ "GO:0040007",
+ "HP:0009824",
+ "UPHENO:0003395",
+ "UBERON:0002107",
+ "UBERON:0015052",
+ "UPHENO:0050606",
+ "UBERON:0003826",
+ "UBERON:0000376",
+ "HP:0012443",
+ "UPHENO:0002711",
+ "UBERON:0001049",
+ "HP:0002827",
+ "UPHENO:0081608",
+ "HP:0001159",
+ "HP:0002823",
+ "UPHENO:0071337",
+ "UPHENO:0075873",
+ "UBERON:0007830",
+ "HP:0012733",
"UBERON:0007832",
- "HP:0000483",
- "UBERON:0005181",
+ "UPHENO:0076767",
+ "HP:0001710",
+ "UBERON:0007823",
+ "UPHENO:0049970",
+ "UPHENO:0086589",
+ "UPHENO:0003053",
+ "UBERON:0016529",
+ "UPHENO:0002766",
+ "UBERON:0001464",
+ "UPHENO:0072200",
+ "HP:0045058",
+ "HP:0100547",
+ "HP:0002644",
+ "UPHENO:0075871",
+ "UBERON:0010719",
+ "HP:0010301",
+ "UPHENO:0003376",
+ "UPHENO:0066925",
+ "UPHENO:0003002",
+ "HP:0003272",
+ "UPHENO:0078288",
"UBERON:0002049",
- "UBERON:0009569",
- "UPHENO:0041644",
- "UPHENO:0002968",
- "UBERON:0003101",
- "UPHENO:0002994",
- "UBERON:0012139",
- "UPHENO:0002792",
- "NCBITaxon:33208",
- "HP:0002414",
- "PATO:0000001",
- "UBERON:0001449",
- "UBERON:0001769",
- "HP:0011842",
- "UPHENO:0074575",
- "UPHENO:0002945",
- "UBERON:0011215",
- "UBERON:0008784",
- "GO:0050881",
- "GO:0001838",
- "HP:0000290",
- "UBERON:0000989",
- "GO:0043473",
- "BFO:0000141",
- "UPHENO:0088170",
+ "UPHENO:0002891",
+ "UBERON:0001709",
+ "HP:0100491",
+ "UBERON:0002389",
+ "UPHENO:0079826",
+ "UBERON:0002217",
+ "UBERON:0003828",
+ "UPHENO:0003411",
+ "UBERON:0005179",
+ "UPHENO:0033616",
+ "UPHENO:0003227",
+ "UBERON:0010428",
+ "UPHENO:0081423",
+ "HP:0030311",
+ "UPHENO:0002733",
+ "UPHENO:0076810",
+ "UPHENO:0003015",
+ "NBO:0000313",
+ "HP:0005120",
+ "UPHENO:0002728",
+ "UPHENO:0012274",
+ "UPHENO:0004459",
+ "UPHENO:0005336",
+ "UPHENO:3000003",
+ "UBERON:0010314",
+ "UBERON:0004375",
+ "HP:0002863",
+ "UPHENO:0031194",
+ "UBERON:0001423",
+ "UPHENO:0086700",
+ "UBERON:0002390",
"UBERON:0001734",
- "UPHENO:0076702",
- "HP:0002270",
- "UPHENO:0087006",
- "HP:0010460",
- "UBERON:0001008",
- "UPHENO:0085330",
- "HP:0000077",
- "HP:0031105",
- "UBERON:0002204",
- "UPHENO:0002678",
- "HP:0040069",
- "UPHENO:3000001",
- "UBERON:0000465",
- "UBERON:0004248",
- "UBERON:0001271",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "UPHENO:0011538",
- "UPHENO:0087531",
- "BFO:0000040",
- "UBERON:0000072",
- "UPHENO:0075997",
- "HP:0002244",
- "UBERON:0005451",
- "HP:0000525",
- "UPHENO:0050008",
- "UBERON:0000059",
- "HP:0010468",
- "UPHENO:0031206",
- "UPHENO:0086159",
- "UBERON:0006800",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "HP:0002246",
- "HP:0009815",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "HP:0000496",
- "UBERON:0010741",
- "UPHENO:0002525",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UBERON:0001691",
- "UBERON:0004708",
- "GO:0048856",
- "UBERON:0000995",
- "UBERON:0005944",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UBERON:0010358",
- "UPHENO:0000541",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UPHENO:0049966",
- "UBERON:0005282",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0041203",
- "UPHENO:0002976",
- "GO:0043009",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0005518",
- "UPHENO:0081435",
- "UPHENO:0068941",
- "UPHENO:0086621",
- "UBERON:0002513",
- "UBERON:0001015",
- "HP:0012372",
- "HP:6000852",
- "NCBITaxon:1",
+ "UPHENO:0087924",
+ "UBERON:5002389",
+ "HP:0011793",
+ "HP:0004377",
+ "UBERON:0002410",
+ "GO:0034101",
+ "HP:0000366",
+ "UPHENO:0050108",
+ "UBERON:0015063",
+ "HP:0001626",
+ "UPHENO:0046460",
+ "UPHENO:0002523",
+ "UPHENO:0046483",
+ "UBERON:0003460",
+ "HP:0009821",
+ "UPHENO:0033612",
+ "UPHENO:0069328",
+ "UPHENO:0003086",
+ "UPHENO:0046531",
+ "UPHENO:0068898",
+ "UBERON:0003513",
+ "UPHENO:0002734",
+ "HP:0011873",
+ "UPHENO:0002764",
+ "UPHENO:0054374",
"UPHENO:0068971",
- "UPHENO:0080300",
- "UPHENO:0003413",
- "UBERON:0001809",
- "UPHENO:0002650",
- "UPHENO:0076806",
+ "UPHENO:0068912",
+ "UPHENO:0003101",
+ "UPHENO:0080382",
+ "UPHENO:0010763",
+ "UBERON:0010364",
+ "HP:0002246",
+ "UBERON:0001456",
+ "UPHENO:0056237",
+ "UPHENO:0068838",
+ "UPHENO:0002303",
+ "UPHENO:0041146",
+ "UBERON:0015203",
+ "UPHENO:0049587",
+ "UPHENO:0069266",
+ "UBERON:0003528",
+ "UPHENO:0012308",
+ "UBERON:0002471",
+ "UPHENO:0068848",
+ "UBERON:0010313",
+ "UPHENO:0046445",
+ "UBERON:0001890",
+ "UBERON:0019221",
+ "UBERON:0012141",
"HP:0000268",
- "UBERON:0007273",
- "UBERON:0010703",
- "UBERON:0001007",
- "UPHENO:0002903",
- "UPHENO:0002866",
- "UBERON:0004089",
- "BFO:0000002",
- "UPHENO:0002756",
- "UBERON:0034713",
- "UPHENO:0002750",
- "UPHENO:0076752",
- "HP:0011218",
- "HP:0008678",
- "HP:0008062",
- "HP:0025031",
- "HP:0000365",
- "UBERON:0000477",
- "UBERON:0012354",
- "HP:0002086",
- "UBERON:0003126",
- "UPHENO:0003432",
- "UPHENO:0082761",
- "UBERON:0013522",
- "UBERON:0012241",
- "UPHENO:0002949",
- "UBERON:0001716",
- "HP:0012848",
- "UPHENO:0002844",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "UPHENO:0046396",
+ "UBERON:0011249",
+ "UPHENO:0012312",
+ "UPHENO:0002967",
+ "HP:0009121",
+ "UPHENO:0002806",
+ "UPHENO:0046540",
+ "UPHENO:0002832",
+ "UPHENO:0004503",
"UPHENO:0086628",
- "UPHENO:0002954",
- "UBERON:0000981",
- "UBERON:0010712",
- "UPHENO:0068932",
- "UPHENO:0001002",
- "UPHENO:0002352",
- "UPHENO:0083263",
- "UPHENO:0003025",
- "HP:0001199",
- "UPHENO:0005008",
- "GO:0050896",
- "UPHENO:0076765",
- "UBERON:0034925",
- "UPHENO:0072355",
- "UPHENO:0002830",
- "UBERON:0012240",
- "UPHENO:0076754",
- "UBERON:0001474",
- "UPHENO:0002668",
- "UBERON:0001709",
- "UPHENO:0002593",
- "HP:0000252",
- "UBERON:0000075",
- "UPHENO:0041226",
- "UBERON:0000025",
- "UPHENO:0076692",
- "UBERON:0004288",
- "NCBITaxon:33154",
+ "UPHENO:0005016",
+ "UPHENO:0069292",
+ "UPHENO:0003020",
+ "UBERON:0008784",
+ "UPHENO:0068839",
+ "UPHENO:0003103",
+ "UPHENO:0004764",
+ "UBERON:0001893",
+ "UPHENO:0069046",
+ "HP:0040019",
+ "UPHENO:0001025",
+ "UPHENO:0002952",
"UPHENO:0086699",
- "UPHENO:0003088",
- "UBERON:0005178",
- "BFO:0000001",
- "UPHENO:0002568",
- "HP:0100491",
- "UPHENO:0001003",
- "UPHENO:0002594",
- "UBERON:0003221",
- "UPHENO:0076723",
- "UPHENO:0004505",
- "UBERON:0001869",
- "HP:0100026",
- "UPHENO:0002988",
+ "HP:0000144",
+ "UPHENO:0002530",
+ "UPHENO:0086159",
+ "UPHENO:0081566",
+ "HP:0009484",
+ "GO:0048731",
+ "UBERON:0006052",
+ "UBERON:0019231",
+ "UBERON:0002108",
+ "UPHENO:0080377",
+ "UPHENO:0002994",
+ "UPHENO:0086116",
+ "UBERON:0004119",
+ "UPHENO:0002903",
+ "UBERON:0003625",
+ "HP:0009179",
+ "UPHENO:0033590",
+ "UBERON:0004092",
+ "UBERON:0015204",
+ "HP:0033127",
+ "CL:0000586",
+ "UBERON:0001332",
+ "HP:0004097",
+ "UBERON:0001474",
+ "UPHENO:0068932",
+ "GO:0001503",
+ "UPHENO:0046479",
+ "UPHENO:0002896",
+ "HP:0100736",
+ "HP:0000153",
+ "UBERON:0004771",
+ "UBERON:0013765",
+ "UPHENO:0063516",
+ "UPHENO:0084653",
+ "UPHENO:0003031",
+ "UPHENO:0004457",
+ "HP:0001010",
+ "UPHENO:0087018",
+ "UBERON:0011159",
"UBERON:0002114",
+ "HP:0002817",
+ "HP:0011004",
+ "UPHENO:0002804",
+ "GO:0022414",
+ "HP:0012373",
+ "UPHENO:0003019",
+ "UPHENO:0002916",
+ "UPHENO:0046472",
+ "HP:0000364",
+ "UPHENO:0015331",
+ "UPHENO:0077874",
+ "HP:0002060",
+ "UPHENO:0088185",
+ "HP:0006101",
+ "UBERON:0018260",
+ "UPHENO:0078081",
+ "UPHENO:0084448",
+ "UPHENO:0041591",
+ "HP:0009602",
+ "UPHENO:0004476",
+ "UBERON:0003606",
+ "UBERON:0002423",
+ "HP:0000032",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UPHENO:0076781",
+ "UBERON:0008907",
+ "UBERON:5102544",
+ "UBERON:0003101",
+ "HP:0000957",
+ "UBERON:0010696",
+ "UPHENO:0080114",
+ "UBERON:0001869",
+ "HP:0005922",
+ "UPHENO:0069125",
+ "UPHENO:0081424",
+ "UBERON:0003278",
+ "UPHENO:0053298",
+ "UBERON:0001442",
+ "NCBITaxon:33208",
+ "UPHENO:0079876",
+ "HP:0006265",
+ "UPHENO:0063520",
+ "UPHENO:0005206",
+ "UPHENO:0002639",
+ "UPHENO:0002570",
+ "UBERON:0002529",
+ "UBERON:0000010",
"UPHENO:0004962",
- "UBERON:0015061",
- "UPHENO:0002585",
- "UPHENO:0068912",
- "UBERON:0002384",
- "HP:0100736",
+ "UBERON:0002204",
+ "UBERON:0000055",
+ "UPHENO:0078730",
+ "HP:0001999",
+ "HP:0031910",
+ "UPHENO:0004508",
+ "HP:0030962",
+ "HP:0006824",
+ "UBERON:0034944",
+ "HP:0011844",
+ "UBERON:0001021",
+ "UBERON:0000122",
+ "UBERON:0010709",
+ "UPHENO:0002562",
+ "UPHENO:0033559",
+ "UPHENO:0002433",
+ "UPHENO:0002746",
+ "UPHENO:0003026",
+ "HP:0001034",
+ "UBERON:0004582",
+ "HP:0000483",
+ "UBERON:0002349",
+ "UBERON:0005401",
+ "UPHENO:0005092",
+ "UBERON:0004122",
+ "UPHENO:0002635",
+ "UBERON:0000173",
"UPHENO:0076739",
- "UPHENO:0080079",
- "UBERON:0000991",
- "UBERON:0005173",
- "UBERON:0001016",
- "UBERON:0015212",
- "HP:0000078",
- "UBERON:0004381",
- "HP:0001639",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0033580",
- "UBERON:0012142",
- "UPHENO:0003031",
- "UPHENO:0056158",
- "UPHENO:0002917",
- "HP:0000240",
- "UBERON:0002471",
- "UBERON:0013765",
- "UPHENO:0076703",
- "UBERON:0005174",
- "HP:0000035",
- "HP:0033127",
- "UBERON:0000062",
- "UBERON:0012476",
- "UBERON:0000467",
- "UBERON:0001332",
- "UPHENO:0087349",
- "UPHENO:0002870",
+ "UPHENO:0003811",
+ "UPHENO:0086173",
+ "UPHENO:0084829",
+ "HP:0100627",
+ "UPHENO:0046538",
+ "UPHENO:0054970",
+ "HP:0001882",
+ "HP:0000486",
+ "UPHENO:0075945",
+ "HP:0002031",
+ "UPHENO:0075915",
+ "UPHENO:0055092",
+ "UPHENO:0074575",
+ "GO:0009987",
"UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0086644",
- "UBERON:0005913",
- "UBERON:0001445",
- "UPHENO:0002385",
- "UPHENO:0004829",
- "UBERON:0010363",
- "UPHENO:0086144",
- "UPHENO:0002816",
- "HP:0001217",
- "HP:0012443",
- "UBERON:0015063",
- "UPHENO:0056242",
- "UBERON:0011250",
- "UPHENO:0003415",
- "UBERON:0000063",
- "HP:0010674",
- "UPHENO:0031228",
- "UPHENO:0003411",
- "UPHENO:0004596",
- "UPHENO:0002833",
- "UPHENO:0012308",
- "UBERON:0001075",
- "UPHENO:0002651",
- "UBERON:0002390",
- "UBERON:0002386",
- "UPHENO:0001570",
- "UBERON:0034768",
- "UBERON:0010696",
- "UPHENO:0014285",
- "UPHENO:0076805",
- "UPHENO:0004828",
- "UPHENO:0003812",
- "HP:0001780",
- "HP:0004348",
- "UPHENO:0002770",
- "UBERON:0000915",
- "UPHENO:0050613",
- "UPHENO:0002531",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0001441",
- "UPHENO:0052161",
- "HP:0011314",
- "UPHENO:0004518",
- "HP:0001631",
- "UBERON:0006052",
- "UPHENO:0071315",
- "UPHENO:0041212",
- "UPHENO:0002267",
- "UBERON:0003606",
- "UBERON:0004111",
- "UBERON:0011374",
- "HP:0011297",
- "HP:0012639",
- "UBERON:0002355",
- "UBERON:0002116",
- "HP:0100587",
- "UPHENO:0076740",
- "UBERON:0011584",
- "UPHENO:0014291",
- "NCBITaxon:131567",
- "UBERON:0004582",
- "UPHENO:0002829",
- "UBERON:0003509",
- "HP:0004209",
- "UPHENO:0002646",
- "UBERON:0010000",
- "UBERON:0011582",
- "UBERON:0003840",
- "HP:0001760",
- "HP:0003026",
- "UPHENO:0071326",
- "UBERON:0000922",
- "UPHENO:0063529",
- "UPHENO:0002864",
- "UPHENO:0002883",
- "UPHENO:0002725",
- "UPHENO:0005231",
- "UBERON:0003037",
- "UBERON:0000064",
- "HP:0045010",
- "UBERON:0000117",
- "HP:0001646",
- "UPHENO:0002639",
- "UPHENO:0002733",
- "UPHENO:0002944",
- "UPHENO:0076724",
- "UPHENO:0076804",
- "UPHENO:0085302",
- "UPHENO:0003020",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005069",
- "UPHENO:0003070",
- "UBERON:0003463",
- "UPHENO:0087846",
- "UPHENO:0005025",
- "UPHENO:0002765",
- "UPHENO:0002530",
- "UPHENO:0002682",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "HP:0000163",
+ "HP:0002242",
+ "HP:0008062",
+ "UPHENO:0002576",
+ "HP:0007565",
+ "UPHENO:0004523",
+ "UBERON:0001691",
"BFO:0000015",
- "UBERON:0002470",
- "HP:0005773",
- "UBERON:0010538",
- "UPHENO:0002971",
- "HP:0002814",
- "UPHENO:0004900",
- "HP:0040070",
- "UPHENO:0087802",
- "UPHENO:0086956",
- "UPHENO:0002859",
+ "GO:0043473",
+ "UPHENO:0002585",
+ "UPHENO:0004064",
+ "UBERON:0001808",
+ "HP:0011355",
+ "UPHENO:0087501",
+ "UBERON:0002416",
+ "UPHENO:0072414",
+ "UPHENO:0084654",
+ "UBERON:0001711",
+ "UPHENO:0050008",
"UPHENO:0002601",
- "UPHENO:0076798",
- "UPHENO:0087858",
- "UBERON:0000948",
- "UPHENO:0002901",
- "UBERON:5001466",
+ "UPHENO:3000007",
+ "HP:0000036",
+ "HP:0004328",
+ "UPHENO:0071326",
+ "UPHENO:0004757",
+ "UBERON:0000477",
+ "UPHENO:0088049",
+ "HP:0004299",
"UPHENO:0003410",
- "HP:0011121",
- "HP:0011024",
- "CL:0002242",
- "UBERON:0000165",
- "UPHENO:0002910",
- "UPHENO:0041525",
- "UPHENO:0002559",
- "UPHENO:0005214",
- "UPHENO:0003516",
- "UPHENO:0002832",
- "UPHENO:0080201",
- "UPHENO:0002926",
- "UBERON:0001819",
- "GO:0040007",
- "UBERON:0000383",
- "UPHENO:0004434",
- "UBERON:0001434",
- "UBERON:0005409",
- "UBERON:0016879",
- "CL:0000988",
- "UPHENO:0002807",
- "UPHENO:0087369",
- "UBERON:0010314",
- "UPHENO:0081584",
- "UPHENO:0027017",
- "UBERON:0004709",
- "UPHENO:0002731",
- "UBERON:0003828",
+ "GO:0048232",
+ "UPHENO:0005029",
+ "HP:0008055",
+ "CL:0000019",
+ "UPHENO:0087427",
+ "BFO:0000004",
"UBERON:0010740",
- "UPHENO:0005185",
- "UPHENO:0010763",
- "UPHENO:0002711",
- "HP:0006501",
- "UPHENO:0084653",
- "UPHENO:0002538",
- "UPHENO:0041041",
- "HP:0010935",
- "UPHENO:0026506",
- "UPHENO:0087334",
- "UBERON:0000978",
- "GO:0030099",
- "UBERON:0002529",
- "UPHENO:0033589",
- "OBI:0100026",
- "UPHENO:0002526",
- "UPHENO:0003052",
- "UPHENO:0087578",
- "UPHENO:0066925",
- "UPHENO:0078288",
- "HP:0031816",
- "UBERON:0005899",
- "UBERON:0002005",
- "UBERON:0000464",
- "UBERON:0003607",
- "UBERON:0003608",
- "UPHENO:0075198",
- "UPHENO:0015284",
- "UBERON:0001766",
- "UBERON:0001423",
+ "UPHENO:0002267",
+ "UPHENO:0002678",
+ "CL:0000738",
+ "UPHENO:0078267",
+ "UBERON:0004923",
+ "UBERON:0002199",
+ "UPHENO:0076957",
+ "CL:0000457",
+ "HP:0012547",
+ "UPHENO:0085330",
+ "UPHENO:0063599",
"UPHENO:0081581",
- "UBERON:0000481",
- "UPHENO:0002964",
- "UPHENO:0002595",
- "UPHENO:0031125",
- "HP:0000119",
- "HP:0011545",
- "UBERON:0000990",
- "UBERON:0001463",
- "UBERON:0006876",
- "UPHENO:0081574",
- "UPHENO:0087548",
- "BFO:0000004",
- "UPHENO:0003412",
- "UBERON:0000079",
- "UBERON:0000019",
+ "UPHENO:0087597",
+ "UPHENO:0087846",
+ "UBERON:0003129",
+ "HP:0007700",
+ "UBERON:0000991",
+ "UPHENO:0076804",
"UBERON:0006598",
- "HP:0001882",
- "GO:0060606",
- "UBERON:0015203",
- "UBERON:0002514",
- "UPHENO:0084654",
- "UBERON:0001768",
- "UBERON:0006311",
- "UBERON:0000060",
- "GO:0008150",
- "GO:0002376",
- "UBERON:0002416",
- "HP:0012041",
- "HP:0001574",
- "UPHENO:0002422",
- "UPHENO:0002411",
- "UPHENO:0075878",
- "UPHENO:0049587",
- "UBERON:5001463",
- "UPHENO:0004064",
- "UPHENO:0080662",
- "GO:0002009",
- "HP:0011355",
- "UBERON:0002097",
- "UPHENO:0074584",
- "UPHENO:0081788",
- "UPHENO:0003811",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UPHENO:0078215",
- "BFO:0000003",
- "UPHENO:0087070",
- "HP:0007565",
- "UPHENO:0002967",
- "HP:0000957",
+ "UBERON:0010758",
+ "UBERON:0001486",
+ "UPHENO:0002949",
"HP:0001367",
- "UBERON:0000154",
- "HP:0007400",
- "UPHENO:0053644",
- "HP:0100627",
- "HP:0001560",
- "UPHENO:0003110",
- "UPHENO:0003084",
- "HP:0001034",
- "UPHENO:0003095",
- "UBERON:0016529",
- "UPHENO:0049970",
- "UPHENO:0084842",
- "UBERON:0011164",
- "UPHENO:0002570",
- "UPHENO:0050068",
- "UBERON:0001021",
- "UPHENO:0002740",
- "UPHENO:0002562",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UBERON:0011779",
- "HP:0012638",
- "UBERON:0000122",
- "UPHENO:0081700",
- "UPHENO:0024906",
- "HP:0031910",
+ "UPHENO:0071332",
+ "UPHENO:0076724",
+ "UPHENO:0086143",
+ "HP:0000202",
+ "HP:0009122",
+ "UPHENO:0031228",
+ "UBERON:0000467",
+ "UBERON:0002240",
+ "UBERON:0001769",
+ "UBERON:0015021",
+ "UPHENO:0002579",
+ "UBERON:0010230",
+ "UBERON:0011215",
"UPHENO:0002360",
- "UPHENO:0005116",
- "CL:0000233",
- "UPHENO:0081709",
- "HP:0030311",
- "UPHENO:0002433",
- "CL:0000763",
- "GO:0002262",
- "UPHENO:0003026",
- "HP:0000639",
- "HP:0410008",
- "UBERON:0000010",
- "HP:0010301",
- "UPHENO:0004476",
- "HP:0000708",
- "UBERON:5002389",
- "UBERON:0002398",
- "UBERON:0001442",
- "HP:0001155",
- "UBERON:0001009",
- "UPHENO:0080126",
- "UPHENO:0005513",
- "UPHENO:0002634",
- "GO:0007283",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0049586",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "GO:0009888",
- "UBERON:0004771",
- "UBERON:0002080",
- "UBERON:0001245",
- "UPHENO:0084448",
- "HP:0000174",
- "UBERON:0034923",
- "UBERON:0010707",
- "UBERON:0002389",
- "HP:0001263",
- "UPHENO:0078159",
+ "UBERON:0000947",
+ "HP:0005607",
+ "UBERON:0004248",
+ "UPHENO:0087334",
+ "NCBITaxon:1",
+ "UPHENO:0071334",
+ "NCBITaxon:6072",
+ "UBERON:0000019",
+ "HP:0001510",
+ "UPHENO:0002987",
+ "HP:0032251",
+ "UPHENO:0001355",
+ "UPHENO:0087585",
+ "UBERON:0000060",
+ "HP:0000152",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UPHENO:0086621",
+ "UPHENO:0005231",
+ "UBERON:8450002",
+ "UBERON:0001271",
"HP:0001373",
- "HP:0006101",
- "UPHENO:0074245",
- "HP:0002664",
- "HP:0011446",
- "HP:0001159",
- "UBERON:0011216",
- "UPHENO:0086797",
- "HP:0011004",
- "UPHENO:0002804",
- "CL:0000232",
- "HP:0005344",
- "UBERON:0003133",
- "UPHENO:0087186",
- "HP:0000929",
- "UBERON:0004573",
- "HP:0000234",
- "UPHENO:0046460",
- "GO:0001503",
- "UPHENO:0082834",
- "HP:0004349",
- "HP:0025633",
- "UPHENO:0002381",
- "UPHENO:0082835",
- "HP:0003330",
- "UBERON:0001464",
- "UBERON:0019231",
- "UBERON:0004742",
- "UPHENO:0076736",
- "UBERON:0011156",
- "UBERON:0003625",
- "UPHENO:0076728",
- "HP:0004207",
- "UPHENO:0002940",
- "UPHENO:0005104",
- "HP:0009484",
- "UPHENO:0003082",
- "UPHENO:0086143",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0025354",
- "UPHENO:0015281",
- "HP:0040019",
- "UBERON:5006052",
- "UBERON:0000004",
- "UPHENO:0084834",
- "UPHENO:0085881",
- "HP:0009179",
- "HP:0001392",
- "UBERON:5003625",
- "UPHENO:0046472",
- "UBERON:0000956",
- "UPHENO:0084829",
- "UPHENO:0004508",
- "UPHENO:0046445",
- "UBERON:0001968",
- "CL:0000015",
- "UPHENO:0076730",
- "UBERON:0004571",
- "UPHENO:0086150",
- "UPHENO:0046479",
- "UPHENO:0080382",
- "UBERON:0034944",
- "UPHENO:0046392",
+ "UBERON:0017672",
"HP:0000818",
- "HP:0006503",
- "UPHENO:0046396",
- "UBERON:0003975",
- "UPHENO:0046397",
- "UPHENO:0088115",
- "UPHENO:0004910",
- "UPHENO:0004765",
+ "UPHENO:0071308",
+ "UBERON:0002412",
+ "UPHENO:0080202",
+ "UBERON:0001032",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0053566",
+ "UPHENO:0081786",
+ "UPHENO:0033593",
+ "UPHENO:0003412",
"UPHENO:0088186",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0063562",
- "UBERON:0005440",
- "UPHENO:0069047",
- "HP:0009824",
- "GO:0048232",
- "GO:0009790",
- "HP:0000315",
- "UPHENO:0004788",
- "UPHENO:0033628",
- "UPHENO:0004956",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UBERON:0002020",
- "UPHENO:0076760",
- "HP:0003022",
- "UPHENO:0069292",
- "UPHENO:0004457",
- "HP:0006495",
- "HP:0034261",
- "UBERON:0010742",
- "UPHENO:0046465",
- "UBERON:0001530",
- "UPHENO:0068838",
- "UPHENO:0081091",
- "UBERON:0000057",
- "UPHENO:0066902",
- "UBERON:0002387",
+ "HP:0012210",
+ "UPHENO:0076754",
+ "UPHENO:0078375",
+ "UPHENO:0011536",
+ "UBERON:0008785",
+ "HP:0001549",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0080201",
+ "HP:0001679",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0071315",
+ "UBERON:0005177",
+ "UPHENO:0003066",
+ "UBERON:0002472",
+ "UPHENO:0002442",
+ "UPHENO:0004494",
+ "UPHENO:0005651",
"UPHENO:0046552",
- "UPHENO:0069328",
- "UPHENO:0052970",
- "UPHENO:0002574",
- "UPHENO:0005596",
- "HP:0000080",
- "HP:0002575",
- "HP:0009826",
- "UPHENO:0046538",
- "UPHENO:0053298",
- "UPHENO:0068839",
- "HP:0004328",
- "HP:0410014",
- "UPHENO:0075943",
- "UBERON:0001893",
- "UPHENO:0063515",
- "UPHENO:0002715",
- "UPHENO:0069327",
- "UPHENO:0075195",
- "UBERON:0007823",
- "UPHENO:0071332",
- "UPHENO:0012312",
- "UPHENO:0002746",
- "UPHENO:0068898",
- "UPHENO:0003053",
- "UPHENO:0046531",
- "UBERON:0002101",
- "UPHENO:0069163",
- "UPHENO:0069064",
- "UPHENO:0002927",
- "UPHENO:0069194",
- "UPHENO:0069125",
- "UPHENO:0001300",
- "UPHENO:0046483",
- "UPHENO:0002659",
- "HP:0009821",
- "UBERON:0003657",
+ "HP:0000549",
+ "UPHENO:0072263",
+ "UBERON:0001766",
+ "UPHENO:0002525",
+ "UBERON:0007118",
+ "HP:0002650",
+ "UPHENO:0076798",
+ "UBERON:0002105",
+ "UBERON:0008962",
+ "UBERON:0006048",
+ "UPHENO:0082834",
+ "UPHENO:0002901",
+ "UBERON:0003037",
+ "UPHENO:0076794",
+ "HP:0010935",
+ "UPHENO:0076800",
+ "HP:0000083",
+ "UPHENO:0002910",
+ "UPHENO:0076806",
+ "UPHENO:0005986",
+ "UBERON:0011138",
+ "UPHENO:0087907",
+ "UBERON:0000064",
+ "UPHENO:0005437",
+ "UPHENO:0052675",
+ "UPHENO:0077391",
+ "UPHENO:0071310",
+ "UPHENO:0050236",
+ "UBERON:0005409",
+ "UPHENO:0075998",
"HP:0001053",
- "HP:0000759",
- "HP:0012331",
- "UPHENO:0002708",
- "UPHENO:0069062",
- "HP:0001010",
- "HP:0030962",
- "HP:0002863",
+ "UPHENO:0084734",
+ "UPHENO:0049699",
+ "UPHENO:0078179",
+ "UBERON:0000167",
+ "UPHENO:0079833",
+ "HP:0011314",
+ "HP:0000174",
+ "CL:0000081",
+ "HP:0000234",
+ "UPHENO:0033602",
+ "HP:0031816",
+ "UPHENO:0005573",
+ "UBERON:0000978",
+ "UPHENO:0003095",
+ "UBERON:0000165",
+ "HP:0001392",
+ "UPHENO:0002427",
+ "UBERON:0000481",
+ "UBERON:0000466",
+ "UBERON:0010707",
+ "UPHENO:0004520",
+ "UPHENO:0002712",
+ "UPHENO:0002546",
+ "HP:0008056",
+ "UPHENO:0033628",
+ "UPHENO:0002962",
+ "UBERON:0003620",
+ "UPHENO:0041079",
+ "UPHENO:0080079",
+ "UPHENO:0001360",
+ "HP:0001167",
+ "UPHENO:0078729",
+ "UPHENO:0001072",
+ "BFO:0000141",
+ "UPHENO:0002529",
+ "UBERON:0004770",
+ "HP:0040069",
"UPHENO:0072415",
- "UPHENO:0012440",
- "UBERON:0003338",
- "HP:0005607",
- "UPHENO:0069266",
- "HP:0012745",
- "UPHENO:0002736",
- "UPHENO:0031129",
- "UPHENO:0081344",
- "UPHENO:0004521",
- "HP:0000028",
- "HP:0004377",
+ "UPHENO:0069327",
+ "UPHENO:0077885",
+ "UPHENO:0002856",
+ "UBERON:5101463",
+ "UBERON:0011676",
+ "UPHENO:0002816",
+ "UPHENO:0002553",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0034768",
+ "UPHENO:0076760",
+ "UPHENO:0069254",
+ "UPHENO:0084834",
+ "UPHENO:0002844",
+ "HP:0000864",
+ "UPHENO:0002957",
+ "UPHENO:0081574",
+ "UPHENO:0082875",
+ "HP:0004349",
+ "GO:0007275",
+ "HP:0007400",
"UPHENO:0063558",
- "HP:0011793",
- "UBERON:0002193",
- "HP:0000795",
- "HP:0000811",
- "HP:0006265",
- "HP:0001871",
- "UPHENO:0086100",
+ "HP:0000172",
+ "UPHENO:0002659",
"UBERON:0007828",
- "UPHENO:0005648",
- "UBERON:0002616",
- "HP:0010936",
- "UBERON:0011107",
- "UPHENO:0002728",
- "UBERON:0010913",
- "UPHENO:0003376",
- "UBERON:0004151",
- "UBERON:0000167",
- "UPHENO:0075945",
- "UBERON:0005156",
+ "HP:0000078",
+ "HP:0005344",
+ "HP:0025633",
+ "GO:0050953",
+ "UPHENO:0002548",
+ "UPHENO:0002550",
+ "UPHENO:0002828",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0088166",
+ "UBERON:0004089",
+ "UPHENO:0003021",
+ "UPHENO:0086797",
+ "UBERON:0000323",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0005058",
+ "HP:0033353",
+ "UPHENO:0002732",
"UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0003021",
- "UBERON:0001486",
- "UBERON:0004905",
- "UBERON:0010719",
- "UPHENO:0087892",
- "UBERON:0000982",
- "UPHENO:0033599",
- "UPHENO:0075915",
- "HP:0002644",
- "UBERON:0004770",
- "UPHENO:0075871",
- "UBERON:0008202",
- "UPHENO:0087980",
- "GO:0032502",
- "UPHENO:0076767",
- "UPHENO:0087203",
+ "UBERON:0011595",
+ "UBERON:0002553",
+ "UBERON:0002514",
+ "UPHENO:0002552",
+ "UPHENO:0003052",
+ "UBERON:0000033",
+ "UBERON:0000949",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0004756",
+ "HP:0008053",
+ "HP:0011875",
+ "NCBITaxon:2759",
+ "UPHENO:0082905",
+ "UBERON:0007375",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0076695",
+ "UPHENO:0002928",
+ "UBERON:0013768",
+ "UPHENO:0082835",
+ "UPHENO:0078159",
+ "NCBITaxon:33154",
+ "UPHENO:0088088",
+ "UPHENO:0080103",
+ "UPHENO:0002643",
+ "HP:0000163",
+ "UPHENO:0079872",
+ "HP:0001638",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "GO:0060606",
+ "UBERON:0001444",
+ "HP:0010468",
+ "UBERON:0000061",
+ "HP:0000481",
+ "HP:0001636",
+ "UPHENO:0002738",
+ "UPHENO:0080200",
+ "HP:0000035",
+ "HP:0011842",
+ "UPHENO:0080209",
+ "UBERON:0002101",
+ "UPHENO:0078215",
+ "UPHENO:0003093",
+ "HP:0012041",
+ "UBERON:0011107",
+ "UBERON:5003625",
+ "GO:0048646",
+ "GO:0008150",
+ "UBERON:0000047",
+ "UBERON:0005899",
+ "HP:0000080",
+ "UPHENO:0086091",
+ "HP:0000496",
+ "UPHENO:0004828",
+ "UPHENO:0086633",
+ "HP:0006496",
+ "UBERON:0001981",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UBERON:0035133",
+ "UPHENO:0052164",
+ "UPHENO:0004595",
+ "UBERON:0003100",
+ "HP:0002973",
+ "UBERON:0015030",
+ "UPHENO:0002909",
+ "UBERON:0001016",
+ "GO:0048609",
+ "UBERON:0004709",
+ "UPHENO:0005097",
+ "UPHENO:0002751",
+ "UPHENO:0069062",
"UPHENO:0002719",
- "UPHENO:0002766",
- "HP:0005918",
- "UPHENO:0002755",
- "UPHENO:0002303",
- "UPHENO:0002952",
- "UPHENO:0002850",
- "HP:0000027",
- "UPHENO:0003002",
- "UPHENO:0005515",
- "UPHENO:0002987",
- "UBERON:0000209",
- "UPHENO:0069161",
- "UPHENO:0086088",
- "CL:0000300",
- "UBERON:0008114",
- "GO:0050890",
- "CL:0000408",
- "HP:0003272",
- "NBO:0000388",
- "HP:0034915",
- "UPHENO:0001147",
- "UBERON:0001272",
- "HP:0030791",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0078179",
- "UPHENO:0081598",
- "UBERON:0000468",
- "UBERON:0011158",
- "UBERON:0002472",
- "UPHENO:0002872",
- "GO:0060004",
- "UBERON:0003826",
- "UPHENO:0000997",
- "UBERON:0002410",
- "UBERON:0005291",
- "UPHENO:0082900",
- "HP:0002823",
- "UBERON:5101466",
- "UBERON:0001032",
- "UBERON:0015052",
- "UBERON:0001017",
- "UPHENO:0078729",
- "UPHENO:0050236",
- "UPHENO:0033590",
+ "HP:0010866",
+ "UPHENO:0015277",
+ "UBERON:0000025",
+ "UPHENO:0068921",
+ "HP:0000639",
+ "HP:0012638",
+ "HP:0003220",
+ "HP:0012718",
+ "UPHENO:0018424",
+ "UPHENO:0071317",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UBERON:0002103",
+ "UPHENO:0069163",
+ "UBERON:0000153",
+ "UPHENO:0076718",
+ "UBERON:5002544",
+ "HP:0002011",
+ "UBERON:0000479",
+ "HP:0000119",
+ "UPHENO:0063565",
+ "UPHENO:0075919",
+ "UBERON:0010703",
+ "UPHENO:0002880",
+ "UBERON:0002417",
+ "UBERON:0010741",
+ "HP:0000118",
+ "UPHENO:0088132",
+ "UPHENO:0066908",
+ "UBERON:0004710",
+ "HP:0001871",
+ "UBERON:0001449",
+ "UPHENO:0076786",
+ "UPHENO:0011498",
+ "UPHENO:0084842",
+ "UPHENO:0086144",
+ "UBERON:0003463",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UBERON:0009569",
+ "UBERON:0000464",
+ "UBERON:0004288",
+ "UPHENO:0049756",
+ "UPHENO:0004507",
+ "HP:0010293",
+ "UPHENO:0002713",
+ "UPHENO:0002597",
+ "HP:0002270",
+ "UBERON:0001424",
+ "UPHENO:0003514",
+ "UBERON:0001733",
+ "UPHENO:0069047",
+ "UPHENO:0014971",
+ "UPHENO:0002964",
+ "UPHENO:0076803",
+ "UPHENO:0002790",
+ "UBERON:0011164",
+ "UPHENO:0046594",
+ "HP:0025015",
+ "UPHENO:0002756",
+ "GO:0009790",
+ "UPHENO:0076776",
+ "UBERON:0003103",
+ "UPHENO:0033573",
+ "UBERON:0005445",
+ "UPHENO:0079839",
+ "UBERON:0002097",
+ "UBERON:0004535",
+ "NBO:0000416",
+ "UBERON:0004537",
+ "UPHENO:0063581",
+ "UPHENO:9002003",
+ "UBERON:0001466",
+ "HP:0000707",
+ "HP:0100026",
+ "UPHENO:0003082",
+ "UPHENO:0054315",
"UBERON:0005893",
- "UPHENO:0079833",
- "HP:0004362",
- "UPHENO:0002704",
- "UBERON:0004119",
+ "UPHENO:0003413",
+ "UBERON:0008811",
+ "UBERON:0000489",
+ "HP:0000077",
+ "UBERON:0003608",
+ "UBERON:0003133",
+ "UPHENO:0011538",
+ "UPHENO:0087548",
+ "UPHENO:3000004",
"HP:0100790",
- "UPHENO:0002685",
- "UPHENO:0001134",
- "UBERON:0001004",
- "UPHENO:0003423",
- "UBERON:0007196",
- "HP:0002715",
- "HP:0001562",
- "UBERON:0002240",
- "HP:0002251",
- "UPHENO:0083646",
- "UBERON:0000065",
- "UBERON:5002544",
- "UBERON:0001558",
- "UPHENO:0053632",
- "HP:0002031",
- "HP:0004299",
- "UPHENO:0003086",
- "HP:0002795",
- "UPHENO:0087924",
- "UPHENO:0002734",
- "UPHENO:0049703",
- "UPHENO:0004486",
- "UPHENO:0072194",
- "UPHENO:0005016",
- "UPHENO:0080103",
- "UBERON:0001005",
- "UPHENO:0002721",
- "UPHENO:0005230",
- "UPHENO:0004536",
- "UBERON:0000474",
- "GO:0001843",
- "UBERON:0008200",
- "HP:0000864",
- "UPHENO:0080185",
- "UBERON:0004908",
- "UPHENO:0003092",
- "UBERON:0012359",
- "HP:0002778",
- "UPHENO:0051077",
- "HP:0200007",
- "UPHENO:0051150",
- "UPHENO:0080393",
- "GO:0007275",
- "UPHENO:0056250",
- "UPHENO:0076707",
- "UBERON:0005423",
- "UPHENO:0076791",
- "HP:0001000",
- "UPHENO:0081608",
- "HP:0003468",
- "UPHENO:0003101",
- "GO:0001841",
- "GO:0014020",
- "UBERON:0003914",
- "UBERON:0005389",
- "UBERON:0010688",
- "UPHENO:0049623",
+ "UPHENO:0068914",
+ "UBERON:0004111",
+ "GO:0042592",
+ "GO:0007601",
+ "UPHENO:0003050",
+ "UBERON:0035553",
+ "UPHENO:0085344",
+ "UBERON:0013522",
+ "UPHENO:0002785",
+ "BFO:0000040",
+ "UPHENO:0084457",
+ "UPHENO:0033565",
"UBERON:0002113",
- "UPHENO:0050108",
- "HP:0002143",
- "HP:0000083",
- "GO:0007600",
- "UBERON:0015025",
- "GO:0048646",
- "UBERON:0010912",
- "GO:0009653",
- "UBERON:0016880",
- "UPHENO:0088132",
- "UPHENO:0051003",
- "UPHENO:0033560",
+ "UBERON:0013702",
+ "UPHENO:0002868",
+ "UPHENO:0002697",
+ "UPHENO:0001391",
+ "UBERON:0000079",
+ "UPHENO:0004142",
+ "UBERON:0002365",
+ "UBERON:0010543",
+ "HP:0002012",
+ "HP:0012331",
+ "UBERON:0000989",
+ "UBERON:0012150",
+ "UBERON:0010000",
+ "UBERON:0011374",
+ "UPHENO:0087547",
+ "UBERON:0015022",
+ "HP:0010461",
+ "UPHENO:0081091",
"UBERON:0001436",
- "UPHENO:0005106",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0085371",
- "UBERON:0001805",
- "UPHENO:0005592",
- "HP:0011849",
- "HP:0100542",
- "UBERON:0011300",
- "UBERON:0011138",
- "UBERON:0011676",
- "UPHENO:0033626",
- "UPHENO:0012274",
- "UPHENO:0002941",
- "HP:0002011",
+ "UBERON:0012475",
+ "HP:0001199",
+ "UPHENO:0003055",
+ "HP:0010972",
+ "HP:0001639",
+ "UPHENO:0086100",
+ "HP:0001217",
+ "UBERON:0010912",
+ "UPHENO:0004829",
+ "UBERON:0004176",
+ "UPHENO:0087309",
+ "HP:0002814",
+ "UBERON:0001712",
"UBERON:5102389",
- "HP:0003312",
- "UBERON:0000479",
- "UPHENO:0075219",
- "UBERON:0001130",
- "UPHENO:0050606",
- "UPHENO:0075873",
- "UPHENO:0002820",
- "UBERON:0002090",
- "HP:0000453",
- "UBERON:0003113",
- "HP:0002827",
- "HP:0045005",
- "UPHENO:0001252",
- "UBERON:0004145",
- "UPHENO:0010850",
- "UPHENO:0003001",
- "UBERON:0002050",
- "UPHENO:0056150",
- "HP:0001347",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0075655",
- "UBERON:0016491",
- "GO:0016331",
- "HP:0032101",
- "GO:0048731",
- "UPHENO:0004418",
- "GO:0035295",
- "UBERON:0000161",
- "GO:0048598",
+ "UBERON:0011143",
+ "UPHENO:0046392",
+ "UPHENO:0003005",
+ "UPHENO:0002651",
+ "UPHENO:0002708",
+ "UPHENO:0055024",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0003462",
+ "UBERON:0034713",
+ "UPHENO:0002750",
+ "UPHENO:0009163",
+ "UBERON:0000475",
+ "UPHENO:0003070",
+ "UBERON:0007779",
+ "UBERON:0007273",
+ "UPHENO:0075902",
+ "UPHENO:0024906",
+ "UPHENO:0002905",
+ "HP:0001384",
+ "HP:0100760",
+ "UPHENO:0002755",
+ "HP:0000525",
+ "UPHENO:0081584",
+ "HP:0000001",
+ "UPHENO:0002917",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "UPHENO:0050101",
+ "UPHENO:0002593",
+ "UPHENO:0002969",
+ "HP:0100867",
+ "UBERON:0003464",
+ "UPHENO:0046505",
+ "UPHENO:0002859",
+ "UBERON:0015023",
+ "UPHENO:0069161",
+ "UBERON:0016879",
+ "UBERON:0001690",
+ "GO:0048871",
+ "HP:0001760",
+ "UPHENO:0076704",
+ "UBERON:0002201",
+ "UBERON:0006717",
+ "UBERON:0002268",
+ "UPHENO:0087577",
+ "UPHENO:0075852",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "HP:0040071",
+ "UPHENO:0050034",
+ "UPHENO:0072402",
+ "UPHENO:0005172",
+ "UBERON:0004571",
+ "HP:0001780",
+ "UBERON:0003466",
+ "UPHENO:0002926",
+ "UPHENO:0053500",
+ "UPHENO:0002870",
+ "UPHENO:0002648",
+ "UPHENO:0077800",
+ "UBERON:0010371",
+ "UPHENO:0002983",
+ "UPHENO:0076735",
"GO:0048729",
- "UBERON:0000061",
- "GO:0035239",
- "HP:0008438",
- "UPHENO:0063595",
- "UPHENO:0033562",
- "HP:0030680",
- "UBERON:0001049",
- "UBERON:0002412",
- "UPHENO:0002992",
- "UPHENO:0041037",
- "GO:0007399",
- "GO:0021915",
- "UPHENO:0063519",
- "HP:0011844",
- "HP:0000925",
- "UPHENO:0005336",
- "UPHENO:0033604",
- "GO:0072175",
- "UPHENO:0087232",
- "UBERON:0001808",
- "UPHENO:0026146",
- "UPHENO:0086864",
- "UPHENO:0002785",
- "UPHENO:0005046",
- "UPHENO:0002246",
- "UPHENO:0076773",
- "UPHENO:0087123",
- "UPHENO:0002442",
- "UPHENO:0088171",
- "UPHENO:0046540",
- "HP:0002250",
- "UPHENO:0041033",
- "UBERON:0004907",
- "HP:0002242",
- "HP:0002813",
- "HP:0025028",
- "UBERON:0005445",
- "HP:0410015",
- "UPHENO:0000996",
- "UPHENO:0088183",
- "HP:0002119",
- "UBERON:0016525",
- "UPHENO:0001360",
- "UBERON:0004086",
- "HP:0002118",
- "UPHENO:0004802",
- "UBERON:0001710",
- "UPHENO:0001340",
- "UPHENO:0001004",
- "UPHENO:0001440",
- "UBERON:0002103",
- "UBERON:0003947",
- "UBERON:0005281",
+ "GO:0019953",
"UPHENO:0018390",
- "UBERON:0000955",
- "HP:0002538",
- "UPHENO:0088047",
- "GO:0007601",
- "UPHENO:0001025",
- "UPHENO:0001072",
- "UPHENO:0074229",
- "UPHENO:0072359",
- "UPHENO:0075175",
- "UPHENO:0074237",
- "UPHENO:0074228",
- "HP:0000492",
- "HP:0000953",
- "UPHENO:0002812",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UPHENO:0074230",
- "UPHENO:0053580",
- "UBERON:0000014",
- "UPHENO:0033609",
- "UBERON:0004176",
- "UPHENO:0063599",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0063581",
- "HP:0004378",
- "UPHENO:0063565",
- "UPHENO:0063596",
- "UBERON:0002199",
- "UBERON:0008785",
- "UPHENO:0002761",
- "UPHENO:0084465",
- "HP:0005927",
- "UPHENO:0002985",
- "UPHENO:0014351",
- "UBERON:0007118",
- "HP:0001638",
- "UBERON:0000203",
- "UBERON:0001890",
- "UBERON:0016548",
- "UPHENO:0001001",
- "UBERON:0003457",
- "UPHENO:0002813",
- "UPHENO:0002713",
- "HP:0040064",
- "UPHENO:0003004",
- "HP:0100760",
- "UPHENO:0081594",
- "HP:0430000",
- "UPHENO:0004621",
- "UPHENO:0084715",
- "HP:0002060",
- "HP:0001873",
- "UPHENO:0004149",
- "UBERON:0003528",
- "HP:0100547",
- "HP:0005522",
- "GO:0050954",
- "UPHENO:0004459",
- "UPHENO:0003098",
- "UPHENO:0002371",
- "UPHENO:0063594",
+ "HP:0010161",
+ "HP:0000135",
+ "GO:0048598",
+ "HP:0031826",
+ "UBERON:0000468",
+ "UBERON:0000154",
+ "GO:0050905",
+ "HP:0001574",
+ "UBERON:0000026",
+ "UBERON:0002050",
+ "UPHENO:0002716",
+ "UPHENO:0067030",
+ "HP:0002813",
+ "UBERON:0034925",
+ "UPHENO:0002945",
+ "UPHENO:0002976",
+ "UBERON:0005913",
+ "UPHENO:0002721",
+ "UPHENO:0002869",
+ "UPHENO:0084761",
+ "UPHENO:0003049",
+ "UBERON:0004921",
+ "UPHENO:0075195",
+ "UPHENO:0081141",
+ "UBERON:0003221",
"UBERON:0010323",
- "UBERON:0011159",
- "UPHENO:0041667",
- "HP:0045060",
- "UPHENO:0078125",
+ "UBERON:0002102",
+ "HP:0000277",
+ "UPHENO:0087006",
+ "GO:0003008",
+ "UBERON:0001359",
+ "UPHENO:0003058",
+ "UBERON:5106048",
+ "UBERON:0012139",
+ "UPHENO:0049874",
+ "HP:6000852",
+ "UBERON:0010742",
+ "UPHENO:0081570",
"UPHENO:0046405",
- "UBERON:0016526",
- "UPHENO:0090191",
- "UBERON:0022303",
- "UPHENO:0087530",
- "UPHENO:0078730",
- "UPHENO:0002694",
- "UPHENO:0004704",
- "UPHENO:0002772",
- "UBERON:0000045",
- "UPHENO:0082905",
- "HP:0007364",
- "UBERON:0001870",
- "UPHENO:0005994",
- "UPHENO:0081566",
- "HP:0001713",
- "UBERON:0003135",
- "UBERON:0019264",
- "UBERON:0012180",
+ "HP:0001560",
+ "UPHENO:0078125",
+ "UPHENO:0003815",
+ "HP:0005927",
+ "UPHENO:0004596",
+ "UPHENO:0056333",
+ "HP:0100542",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UPHENO:0076783",
+ "HP:0000924",
+ "UBERON:0004573",
+ "UPHENO:0087612",
+ "UPHENO:0002754",
+ "UPHENO:0002758",
+ "UPHENO:0031123",
+ "GO:0001838",
+ "HP:0011297",
+ "UPHENO:0080165",
+ "UBERON:0000045",
+ "UPHENO:0067095",
+ "UPHENO:0002833",
+ "UPHENO:0069030",
+ "UBERON:0012354",
+ "HP:0100587",
+ "UBERON:0001950",
"RO:0002577",
- "UBERON:0010709",
- "GO:0060429",
- "UPHENO:0085876",
+ "UPHENO:0087369",
+ "HP:0002118",
+ "UBERON:0013701",
+ "UPHENO:0053632",
+ "UBERON:0003135",
+ "UBERON:0012142",
+ "UBERON:0003509",
+ "UBERON:0011779",
+ "UPHENO:0033572",
+ "UPHENO:0046397",
+ "UBERON:0015212",
+ "UPHENO:0033603",
+ "UBERON:0002116",
+ "UPHENO:0041462",
+ "UPHENO:0003799",
+ "UPHENO:0002411",
+ "UBERON:0016548",
+ "UPHENO:0002568",
+ "UBERON:0007272",
+ "HP:0030680",
+ "UBERON:0005956",
+ "UPHENO:0002554",
+ "UBERON:0003920",
+ "UBERON:0004529",
+ "HP:0000517",
+ "UPHENO:0002968",
+ "UPHENO:0041226",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "HP:0002143",
+ "UBERON:0034929",
+ "UBERON:0001637",
+ "HP:0000340",
+ "UPHENO:0002963",
+ "HP:0012639",
+ "UPHENO:0002704",
+ "UBERON:0001245",
+ "UPHENO:0003812",
+ "HP:0001873",
+ "UPHENO:0002731",
+ "UPHENO:0002632",
+ "HP:0045060",
+ "UBERON:0007811",
+ "HP:0003330",
+ "GO:0021915",
+ "UBERON:0006058",
+ "UBERON:0002544",
+ "UBERON:0002104",
+ "UPHENO:0002586",
+ "HP:0012372",
+ "UPHENO:0033591",
+ "UPHENO:0002536",
+ "UBERON:5101466",
+ "UBERON:0005291",
+ "UBERON:0002428",
+ "UBERON:0010191",
+ "UBERON:0011250",
+ "HP:0004207",
+ "HP:0001643",
+ "HP:0002007",
+ "UPHENO:0004418",
+ "UPHENO:0002526",
+ "UBERON:0010538",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UPHENO:0081603",
+ "UPHENO:0080185",
+ "UPHENO:0088170",
+ "UPHENO:0002668",
+ "UPHENO:0076805",
+ "HP:0000582",
+ "UBERON:0004088",
+ "UPHENO:0002899",
+ "UPHENO:0087472",
+ "UBERON:0001768",
+ "UPHENO:0001584",
+ "UBERON:0000062",
+ "UPHENO:0054304",
+ "UBERON:0001009",
+ "UPHENO:0087186",
+ "UPHENO:0002820",
+ "CL:0000329",
+ "UPHENO:0026506",
+ "HP:0040068",
+ "UPHENO:0076941",
+ "UBERON:0010712",
+ "UPHENO:0002988",
+ "UPHENO:0081594",
+ "UBERON:0004708",
+ "UBERON:0002005",
+ "UPHENO:0041212",
+ "BFO:0000002",
+ "HP:0000079",
+ "UBERON:0012358",
+ "UPHENO:0003432",
+ "UPHENO:0001002",
+ "UPHENO:0087980",
+ "UBERON:0000178",
+ "HP:0002597",
+ "HP:0003022",
+ "HP:0006495",
+ "UBERON:0004381",
+ "UPHENO:0081709",
+ "UPHENO:0002559",
+ "HP:0002244",
+ "UPHENO:0003516",
+ "UPHENO:0076703",
+ "UPHENO:0088140",
+ "UPHENO:0056230",
+ "UPHENO:0075949",
+ "UBERON:0001008",
+ "UBERON:0010222",
+ "BFO:0000001",
+ "UPHENO:0002850",
+ "UPHENO:0003065",
+ "UPHENO:0002636",
+ "UPHENO:0041821",
+ "UPHENO:0002907",
+ "UPHENO:0080369",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0076729",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UPHENO:0084816",
+ "HP:0001654",
+ "UPHENO:0056226",
+ "UPHENO:0078246",
+ "UBERON:5001466",
+ "UPHENO:0002944",
+ "UPHENO:0002531",
+ "UBERON:0001007",
+ "UPHENO:0002638",
+ "UPHENO:0004909",
+ "HP:0001000",
+ "UPHENO:0014865",
+ "UPHENO:0004521",
+ "UPHENO:0086956",
+ "UBERON:0010363",
+ "UBERON:0005881",
+ "UBERON:0001062",
+ "UPHENO:0049985",
+ "HP:0009115",
+ "UBERON:0005985",
+ "UPHENO:0002807",
+ "UPHENO:0002211",
+ "UPHENO:0035160",
+ "UPHENO:0002740",
+ "UPHENO:0002808",
+ "UBERON:0016880",
+ "UPHENO:0076692",
"UPHENO:0086595",
- "UPHENO:0002839",
- "UPHENO:0004625",
- "UPHENO:0088166",
- "UPHENO:0002730",
- "UBERON:0007842",
- "UBERON:0007914"
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UBERON:0000075",
+ "UPHENO:0033562",
+ "UBERON:0007798",
+ "UBERON:0010708",
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0002386",
+ "UPHENO:0087802",
+ "HP:0009815",
+ "UPHENO:0031206",
+ "UPHENO:0002595",
+ "UPHENO:0081575",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0005214",
+ "UPHENO:0002803",
+ "GO:0007610",
+ "UPHENO:0010799",
+ "UPHENO:0050622",
+ "UPHENO:0004518"
],
"has_phenotype_closure_label": [
- "decreased pigmentation in skin of body",
- "decreased biological_process in skin of body",
- "decreased biological_process in multicellular organism",
- "decreased pigmentation in multicellular organism",
- "Abnormal platelet count",
- "Abnormal platelet morphology",
- "biogenic amine secreting cell",
- "Thrombocytopenia",
+ "shape eyelid",
+ "Ptosis",
+ "drooping eyelid",
+ "Hypopigmentation of the skin",
"Hypopigmented skin patches",
"serotonin secreting cell",
+ "number of myeloid cell phenotype",
+ "decreased number of myeloid cell",
+ "platelet phenotype",
+ "anucleate cell",
+ "Thrombocytopenia",
+ "biogenic amine secreting cell",
"decreased number of material anatomical entity in the multicellular organism",
"decreased number of cell",
- "decreased number of anatomical entity in the multicellular organism",
"nucleate cell",
- "decreased number of material anatomical entity",
- "blood phenotype",
- "decreased number of anatomical structure in the multicellular organism",
- "leukocyte",
- "number of anatomical entities of type anatomical entity in blood phenotype",
+ "immune system morphology phenotype",
+ "Abnormal leukocyte count",
+ "motile cell",
+ "haemolymphatic fluid",
"Abnormal immune system morphology",
"number of hematopoietic cell phenotype",
- "blood",
- "decreased number of leukocyte",
+ "decreased number of anatomical structure",
"Abnormal leukocyte morphology",
- "homeostatic process phenotype",
+ "decreased number of anatomical entity",
+ "blood phenotype",
+ "decreased number of anatomical entity in the blood",
+ "haemolymphatic fluid phenotype",
+ "number of anatomical entities of type anatomical entity in blood phenotype",
"metabolic process",
- "motile cell",
- "decreased height of the anatomical entity",
+ "Abnormal cellular phenotype",
+ "obsolete cell",
+ "Abnormal cellular physiology",
"Short stature",
- "decreased height of the multicellular organism",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
"multicellular organism height phenotype",
"decreased size of the multicellular organism",
+ "Sideroblastic anemia",
+ "cell differentiation",
+ "cellular process",
"Abnormal erythrocyte morphology",
- "myeloid cell homeostasis",
- "myeloid cell differentiation",
+ "erythroid lineage cell morphology phenotype",
"blood cell phenotype",
- "bone cell",
"Anemia of inadequate production",
- "Anemia",
- "bone marrow cell",
- "myeloid cell",
- "cell differentiation",
- "erythroid lineage cell",
- "Pyridoxine-responsive sideroblastic anemia",
- "Aplasia/Hypoplasia of the radius",
- "decreased number of myeloid cell",
+ "blood cell",
+ "erythrocyte differentiation",
"Abnormal morphology of the radius",
- "radius endochondral element",
"radius bone phenotype",
+ "radius bone",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormal cerebral morphology",
+ "size of skull phenotype",
"Abnormality of skull size",
+ "Abnormal forebrain morphology",
+ "Decreased head circumference",
+ "Microcephaly",
+ "Intellectual disability",
"cognition",
+ "Neurodevelopmental delay",
+ "Neurodevelopmental abnormality",
+ "Abnormal curvature of the vertebral column",
+ "number of leukocyte phenotype",
+ "Abnormality of the vertebral column",
"Scoliosis",
"Almond-shaped palpebral fissure",
+ "decreased length of ectoderm-derived structure",
+ "decreased length of palpebral fissure",
+ "decreased size of the anatomical conduit",
+ "Short palpebral fissure",
"size of palpebral fissure phenotype",
- "decreased size of the palpebral fissure",
- "Recurrent infections",
+ "decreased size of the orifice",
+ "immune system",
"immune system phenotype",
+ "cellular developmental process",
"Recurrent urinary tract infections",
- "Abnormality of the immune system",
- "immune system physiology phenotype",
- "cell",
- "semen",
- "decreased qualitatively reproductive process",
- "male reproductive system physiology phenotype",
- "male gamete generation",
- "absent germ cell",
- "decreased length of ectoderm-derived structure",
- "haploid cell",
+ "Unusual infection",
+ "Abnormality of immune system physiology",
+ "Functional abnormality of male internal genitalia",
+ "decreased multicellular organismal reproductive process",
+ "developmental process involved in reproduction phenotype",
+ "male germ cell",
+ "reproductive process phenotype",
"absent anatomical entity in the multicellular organism",
- "Azoospermia",
- "internal male genitalia",
- "decreased qualitatively developmental process involved in reproduction",
- "reproductive process",
+ "decreased spermatogenesis",
+ "internal male genitalia physiology phenotype",
+ "cell phenotype",
+ "spermatogenesis",
+ "number of sperm phenotype",
+ "decreased developmental process involved in reproduction",
+ "decreased reproductive process",
+ "internal male genitalia phenotype",
+ "Abnormal male reproductive system physiology",
+ "sexual reproduction",
+ "multicellular organismal reproductive process",
+ "developmental process involved in reproduction",
+ "germ line cell",
+ "haploid cell",
"absent anatomical entity in the semen",
- "absent material anatomical entity in the multicellular organism",
- "spermatogenesis phenotype",
- "decreased male gamete generation",
+ "number of cell phenotype",
+ "decreased gamete generation",
+ "absent sperm",
+ "Abnormal spermatogenesis",
"absent gamete",
- "absent anatomical structure",
- "internal male genitalia physiology phenotype",
- "absent anatomical entity",
+ "germ cell",
+ "gamete",
+ "spermatogenesis phenotype",
+ "cell",
+ "absent material anatomical entity",
+ "decreased qualitatively developmental process involved in reproduction",
"male reproductive organ physiology phenotype",
- "multicellular organismal reproductive process phenotype",
- "multicellular organismal reproductive process",
- "decreased reproductive process",
- "gamete phenotype",
- "number of myeloid cell phenotype",
- "localised anatomical entity",
+ "absent anatomical structure in the multicellular organism",
+ "absent anatomical entity",
+ "Azoospermia",
+ "absent sperm in the semen",
+ "localised male reproductive organ",
+ "localised organ",
+ "testis phenotype",
+ "localised multicellular anatomical structure",
"localised anatomical structure",
- "Cryptorchidism",
- "localised reproductive organ",
- "Abnormality of the lower urinary tract",
- "glans",
- "urethra",
+ "localised gonad",
"male urethral meatus",
- "Abnormality of the urethra",
- "lower urinary tract phenotype",
"urethra phenotype",
- "Abnormality of thrombocytes",
+ "oxygen accumulating cell",
+ "urethral meatus",
+ "urethra",
+ "glans penis",
"urethral opening",
+ "Abnormality of the urethra",
+ "decreased number of material anatomical entity",
+ "renal pelvis/ureter",
"Abnormal ureter morphology",
- "Abnormality of the ureter",
"Hydroureter",
"excretory tube phenotype",
+ "Abnormality of the ureter",
+ "excretory tube",
+ "cavitated compound organ physiology phenotype",
"Abnormality of the urinary system physiology",
+ "renal system physiology phenotype",
"abdominal segment element physiology phenotype",
+ "trunk region element physiology phenotype",
"kidney physiology phenotype",
- "Renal insufficiency",
- "urethral meatus",
- "abdomen element physiology phenotype",
- "compound organ physiology phenotype",
- "decreased functionality of the gonad",
+ "localised reproductive organ",
+ "Abnormal renal physiology",
+ "Puberty and gonadal disorders",
+ "gonad phenotype",
+ "decreased functionality of the reproductive organ",
"reproductive structure physiology phenotype",
- "incomplete closing of the structure with developmental contribution from neural crest",
+ "decreased functionality of the gonad",
+ "decreased functionality of the organ",
+ "reproductive organ physiology phenotype",
+ "Hypogonadism",
"incomplete closing of the ectoderm-derived structure",
"incomplete closing of the neural crest-derived structure",
"incomplete closing of the multi-tissue structure",
- "Cleft palate",
- "increased height of the material anatomical entity",
+ "incomplete closing of the secondary palate",
"increased height of the anatomical entity",
- "anatomical entity height phenotype",
- "increased size of the structure with developmental contribution from neural crest",
- "High palate",
+ "increased height of the multi-tissue structure",
+ "increased height of the material anatomical entity",
+ "increased height of the neural crest-derived structure",
"increased height of the roof of mouth",
+ "High palate",
+ "increased size of the structure with developmental contribution from neural crest",
+ "increased height of the ectoderm-derived structure",
"increased height of the secondary palate",
- "increased size of the multi-tissue structure",
- "increased height of the multicellular anatomical structure",
- "increased number of organ part",
- "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
- "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "cerebrospinal fluid",
"cerebrospinal fluid phenotype",
"increased number of anatomical structure in the cerebrospinal fluid",
+ "increased number of ventricle of nervous system",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "bodily fluid phenotype",
"number of anatomical enitites of type organ component layer phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Hydrocephalus",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
"increased number of ectoderm-derived structure in the cerebrospinal fluid",
- "increased number of material anatomical entity in the cerebrospinal fluid",
- "cerebrospinal fluid morphology phenotype",
- "number of anatomical enitites of type organ part phenotype",
- "transudate",
- "erythrocyte homeostasis",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "increased number of brain ventricle",
"number of anatomical enitites of type material anatomical entity phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of ectoderm-derived structure",
"increased number of organ part in the cerebrospinal fluid",
- "increased number of anatomical entity in the cerebrospinal fluid",
- "increased number of ventricle of nervous system",
"number of anatomical enitites of type anatomical structure phenotype",
- "erythrocyte differentiation",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "increased number of anatomical entity",
- "Epicanthus",
- "excretory tube",
- "skin of face morphology phenotype",
- "increased length of the multicellular anatomical structure",
- "skin of head morphology phenotype",
- "increased number of organ component layer in the cerebrospinal fluid",
- "epicanthal fold",
- "zone of skin morphology phenotype",
- "increased length of the head or neck skin",
- "skin of eyelid",
- "aplasia or hypoplasia of radius bone",
+ "increased number of organ part",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "Dolichocephaly",
+ "skin of face",
+ "Abnormal shape of the palpebral fissure",
+ "upper eyelid",
+ "head or neck skin",
"increased length of the zone of skin",
+ "skin of eyelid",
+ "Epicanthus",
+ "increased size of the zone of skin",
"increased length of the anatomical structure",
"zone of skin",
- "increased length of the skin of face",
- "decreased functionality of the reproductive organ",
- "increased size of the immaterial anatomical entity",
+ "increased size of the zone of organ",
+ "increased length of the material anatomical entity",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
"anatomical line phenotype",
- "increased size of the non-material anatomical boundary",
- "increased length of the immaterial anatomical entity",
- "increased length of the anatomical line",
+ "aplasia or hypoplasia of radius bone",
"non-material anatomical boundary phenotype",
- "asymmetry of anatomical entity phenotype",
- "Facial asymmetry",
+ "increased length of the non-material anatomical boundary",
+ "Abnormal duodenum morphology",
"asymmetry of face phenotype",
- "Intellectual disability",
- "shape of forehead phenotype",
- "forehead morphology phenotype",
- "facial bone phenotype",
- "Aplasia/Hypoplasia of facial bones",
- "Hypoplastic facial bones",
- "Short palpebral fissure",
- "lower jaw region",
- "Abnormality of metabolism/homeostasis",
+ "gamete generation",
+ "Facial asymmetry",
+ "manus morphology phenotype",
+ "facial skeleton",
+ "ectoderm-derived structure atresia",
+ "facial bone",
+ "mandible",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "skull",
+ "anatomical structure, curved phenotype",
+ "facial bone hypoplasia",
+ "ulna endochondral element",
+ "Aplasia/Hypoplasia involving bones of the skull",
"dentary",
- "dentary phenotype",
+ "decreased size of the palpebral fissure",
+ "bone of lower jaw",
+ "embryonic cardiovascular system",
"jaw skeleton morphology phenotype",
- "increased size of the anatomical line",
- "aplasia or hypoplasia of skull",
- "facial bone",
- "anatomical entity hypoplasia in face",
- "aplasia or hypoplasia of mandible",
- "Aplasia/Hypoplasia of the mandible",
- "Micrognathia",
- "Abnormal mandible morphology",
+ "mandible morphology phenotype",
+ "vasculature of organ phenotype",
+ "abdominal segment bone",
+ "bone element hypoplasia in face",
+ "multicellular organismal reproductive process phenotype",
+ "Aplasia/Hypoplasia of the mandible",
+ "decreased multicellular anatomical structure mass",
+ "respiratory system physiology phenotype",
+ "aplasia or hypoplasia of mandible",
+ "Abnormal ear physiology",
+ "Abnormal facial skeleton morphology",
+ "Abnormality of blood and blood-forming tissues",
+ "incomplete closing of the multicellular anatomical structure",
+ "decreased embryo development",
+ "Hearing abnormality",
+ "ear physiology phenotype",
+ "decreased sensory perception",
"decreased qualitatively sensory perception of sound",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "decreased nervous system process",
- "decreased sensory perception of mechanical stimulus",
"sensory perception of mechanical stimulus phenotype",
- "sensory perception of mechanical stimulus",
- "germ line cell",
- "sensory perception of sound phenotype",
- "posterior nasal aperture morphology phenotype",
- "posterior nasal aperture atresia",
- "chemosensory system phenotype",
+ "Hearing impairment",
+ "posterior nasal aperture",
+ "absent germ cell",
+ "exocrine gland",
+ "posterior nasal aperture phenotype",
+ "olfactory system morphology phenotype",
"olfactory system",
"chemosensory system",
- "Choanal atresia",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of the nose",
- "posterior nasal aperture",
+ "shape anatomical entity",
"naris atresia",
- "internal naris",
"naris",
- "naris phenotype",
- "internal naris phenotype",
- "Abnormal jaw morphology",
+ "prepuce of penis",
+ "Choanal atresia",
+ "material anatomical entity, curved phenotype",
+ "myocardium morphology phenotype",
"cornea phenotype",
- "asymmetrically curved cornea",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "curved anatomical entity",
+ "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
+ "entity",
"neural crest-derived structure, asymmetrically curved phenotype",
- "mandible phenotype",
+ "incomplete closing of the organ",
"multicellular anatomical structure, asymmetrically curved phenotype",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "ocular surface region",
- "Astigmatism",
- "cornea",
+ "cornea, curved phenotype",
+ "cornea morphology phenotype",
+ "subdivision of tube",
+ "cardiac ventricle morphology phenotype",
+ "ectoderm-derived structure, asymmetrically curved phenotype",
+ "skin of head morphology phenotype",
+ "Abnormal choanae morphology",
+ "multicellular organism morphology phenotype",
+ "Abnormal cornea morphology",
+ "increased length of the epicanthal fold",
+ "multicellular anatomical structure, curved phenotype",
+ "ocular surface region morphology phenotype",
+ "decreased multicellular organism development",
+ "ectoderm-derived structure, curved phenotype",
+ "jaw skeleton",
"structure with developmental contribution from neural crest, curved phenotype",
+ "esophagus morphology phenotype",
+ "decreased sensory perception of sound",
"asymmetrically curved anatomical entity",
- "shape cornea",
- "Abnormal conjugate eye movement",
+ "manual digit 5 plus metapodial segment",
+ "curved anatomical entity",
+ "asymmetrically curved cornea",
+ "heart morphology phenotype",
+ "Abnormality of the curvature of the cornea",
+ "neural crest-derived structure, curved phenotype",
+ "central nervous system",
"Strabismus",
- "Abnormal size of the palpebral fissures",
- "non-material anatomical boundary",
- "Aplasia/Hypoplasia involving bones of the skull",
- "visual perception",
- "Abnormality of vision",
- "decreased qualitatively system process",
- "visual perception phenotype",
- "decreased qualitatively visual perception",
- "sensory perception of light stimulus",
- "increased number of multicellular anatomical structure",
"decreased qualitatively sensory perception of light stimulus",
- "Ptosis",
- "Abnormal lens morphology",
+ "skeleton of limb phenotype",
+ "sensory perception",
+ "decreased number of leukocyte in the blood",
+ "sensory perception of light stimulus",
+ "Abnormality of vision",
+ "cardiac ventricle phenotype",
+ "lens of camera-type eye",
"opaque lens of camera-type eye",
- "Puberty and gonadal disorders",
"lens of camera-type eye morphology phenotype",
- "lens of camera-type eye phenotype",
- "lens of camera-type eye",
- "Abnormal male reproductive system physiology",
+ "anatomical entity height phenotype",
+ "Cataract",
+ "opaque anatomical entity",
+ "frontal lobe",
"transparent eye structure phenotype",
+ "Proptosis",
+ "zone of organ",
"protruding eyeball of camera-type eye",
- "Microphthalmia",
- "size of eyeball of camera-type eye phenotype",
- "Slanting of the palpebral fissure",
- "Abnormal eyelid morphology",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of globe size",
+ "increased number of anatomical entity in the cerebrospinal fluid",
"eyelid phenotype",
+ "male gamete",
+ "increased length of the skin of face",
+ "olfactory system phenotype",
+ "posterior nasal aperture morphology phenotype",
+ "chordate embryonic development",
+ "eyelid morphology phenotype",
+ "reproductive organ phenotype",
+ "Abnormal facial shape",
+ "structure with developmental contribution from neural crest phenotype",
+ "Abnormal conjugate eye movement",
"palpebral fissure",
- "Upslanted palpebral fissure",
- "Abnormal involuntary eye movements",
- "Abnormal ear physiology",
- "eye movement",
- "ear physiology phenotype",
- "Abnormal renal physiology",
- "ectoderm-derived structure physiology phenotype",
- "physiologic nystagmus",
- "camera-type eye physiology phenotype",
- "Functional abnormality of the inner ear",
- "internal ear phenotype",
- "Abnormal vestibulo-ocular reflex",
- "sense organ physiology phenotype",
+ "Slanting of the palpebral fissure",
+ "Abnormal eyelid morphology",
+ "Abnormality of the palpebral fissures",
"cranial nerve related reflex",
- "internal ear",
+ "Abnormal eye physiology",
+ "decreased number of hematopoietic cell",
"Nystagmus",
- "Abnormality of the inner ear",
- "simple eye physiology phenotype",
- "eye movement phenotype",
- "Abnormality of chromosome stability",
- "physiologic nystagmus phenotype",
- "Bicornuate uterus",
- "Abnormal morphology of female internal genitalia",
+ "camera-type eye physiology phenotype",
+ "Multiple cafe-au-lait spots",
+ "increased size of the non-material anatomical boundary",
+ "eye physiology phenotype",
+ "vestibulo-ocular reflex phenotype",
+ "hindlimb endochondral element phenotype",
+ "camera-type eye",
"Abnormality of the uterus",
- "shape uterus",
- "female organism phenotype",
- "anatomical line",
- "internal female genitalia phenotype",
+ "internal genitalia",
+ "bone of lower jaw phenotype",
+ "bicornuate anatomical entity",
+ "Abnormal uterus morphology",
+ "subdivision of oviduct phenotype",
+ "naris phenotype",
+ "localised reproductive structure",
+ "Abnormality of the ear",
"internal female genitalia",
- "female reproductive system morphology phenotype",
- "oviduct",
+ "primary circulatory organ",
+ "Abnormal involuntary eye movements",
+ "Abnormality of the face",
+ "Abnormality of the abdominal organs",
+ "female reproductive organ phenotype",
+ "myocardium phenotype",
"female reproductive organ morphology phenotype",
- "female reproductive system",
- "cell development",
+ "Abnormality of the female genitalia",
+ "internal female genitalia phenotype",
+ "oviduct",
+ "increased biological_process",
+ "decreased functionality of the anatomical structure",
+ "female reproductive system morphology phenotype",
+ "hindlimb endochondral element",
+ "hindlimb bone",
"bicornuate uterus",
- "female reproductive organ",
- "uterus",
- "Abnormal uterus morphology",
+ "Abnormality of the endocrine system",
+ "hypothalamus-pituitary axis phenotype",
+ "Abnormal skeletal morphology",
+ "manual digit 1 plus metapodial segment",
+ "paired limb/fin phenotype",
+ "manual digit 1 phalanx",
+ "number of platelet phenotype",
+ "material anatomical entity phenotype",
+ "digit 1",
"hypothalamus-pituitary axis",
"manual digit 1 morphology phenotype",
- "manual digit phalanx endochondral element",
- "digit 1 plus metapodial segment",
- "digit 1 digitopodial skeleton",
- "olfactory organ",
- "skeleton of manual acropodium",
- "mandible hypoplasia",
- "skeleton of manual digitopodium",
+ "lower urinary tract",
+ "increased size of the immaterial anatomical entity",
+ "Triphalangeal thumb",
+ "autopod bone phenotype",
+ "Abnormality of the orbital region",
"manual digit bone",
+ "radius bone morphology phenotype",
+ "increased number of brain ventricle/choroid plexus",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"manual digit 1",
- "manual digitopodium bone",
- "digit 1",
- "Hearing abnormality",
+ "skeleton of manual digitopodium",
+ "thoracic cavity blood vessel",
+ "digit 1 digitopodial skeleton",
+ "outflow tract",
+ "digit 1 phenotype",
+ "vasculature phenotype",
+ "skeleton of manual acropodium",
+ "fused anatomical entity and pedal digit",
+ "manus bone",
+ "outflow part of left ventricle",
"phalanx of manus",
- "manual digit 1 plus metapodial segment",
- "Abnormal thumb morphology",
- "multicellular anatomical structure, curved phenotype",
- "behavior",
- "system process phenotype",
- "musculoskeletal movement phenotype",
- "aplasia or hypoplasia of telencephalon",
- "Atypical behavior",
- "Hyperreflexia",
- "reflexive behavior",
- "voluntary movement behavior phenotype",
- "manual digit 1 phalanx",
- "increased reflex",
- "response to stimulus phenotype",
- "increased response to stimulus",
- "behavior process phenotype",
- "neuromuscular process",
- "voluntary musculoskeletal movement",
- "voluntary musculoskeletal movement phenotype",
- "body part movement",
- "voluntary movement behavior",
"nervous system process",
- "musculoskeletal movement",
- "sexual reproduction",
- "response to external stimulus phenotype",
- "Abnormality of mental function",
- "exocrine system",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "digestive system gland phenotype",
- "Abnormality of the abdominal organs",
- "decreased functionality of the organ",
- "hepatobiliary system phenotype",
- "exocrine gland",
- "liver",
+ "decreased pigmentation in skin of body",
+ "decreased functionality of the reproductive structure",
+ "reflex",
+ "multicellular organismal movement phenotype",
+ "increased qualitatively response to stimulus",
+ "response to stimulus",
+ "embryonic development/birth phenotype",
+ "male reproductive organ phenotype",
+ "internal naris",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "nervous system process phenotype",
+ "Abnormal reflex",
+ "drooping anatomical entity",
+ "hindlimb skeleton",
+ "vessel",
+ "multicellular organismal movement",
+ "organism subdivision",
+ "Hyperreflexia",
+ "musculoskeletal movement phenotype",
+ "behavior phenotype",
+ "Abnormal uvula morphology",
+ "behavior process phenotype",
+ "increased response to external stimulus",
+ "Atrial septal defect",
+ "esophagus",
+ "voluntary musculoskeletal movement phenotype",
+ "body part movement",
+ "head",
+ "glandular system",
+ "myeloid cell",
+ "endocrine gland phenotype",
+ "tetrapod frontal bone phenotype",
+ "hepatobiliary system",
+ "exocrine system",
"gland phenotype",
- "Abnormality of the liver",
- "organ physiology phenotype",
- "liver phenotype",
- "decreased multicellular organismal process",
- "embryo development rate phenotype",
- "decreased embryo development",
- "decreased qualitatively embryo development",
- "multicellular organism development phenotype",
+ "endocrine system phenotype",
+ "endocrine gland",
+ "increased response to stimulus",
+ "hepatobiliary system phenotype",
+ "multi organ part structure phenotype",
+ "gland",
"decreased developmental process",
- "male gamete",
+ "decreased qualitatively anatomical structure development",
"multicellular organismal process phenotype",
- "anatomical structure development phenotype",
- "decreased qualitatively biological_process",
+ "decreased qualitatively system process",
+ "anatomical cavity",
+ "decreased qualitatively embryo development",
+ "Cryptorchidism",
+ "Tetralogy of Fallot",
+ "multicellular organism development phenotype",
+ "embryo development rate phenotype",
+ "manual digit morphology in the manus phenotype",
"Growth delay",
- "Intrauterine growth retardation",
- "Abnormality of connective tissue",
- "ureter",
- "incomplete closing of the organ part",
- "Abnormality of the abdominal wall",
+ "decreased qualitatively multicellular organismal process",
+ "developmental process rate phenotype",
+ "skeleton of pedal acropodium",
+ "embryo development phenotype",
+ "anatomical structure development phenotype",
+ "Abnormality of globe location",
+ "abdominal wall",
+ "decreased size of the bone of pectoral complex",
+ "herniated anatomical entity",
+ "Umbilical hernia",
+ "ulna phenotype",
+ "Hernia",
+ "localised anatomical entity",
"umbilicus morphology phenotype",
- "radius bone",
- "incomplete closing of the abdominal wall",
- "absent material anatomical entity",
- "abdominal wall phenotype",
- "connective tissue",
+ "tissue phenotype",
"herniated abdominal wall",
- "abdominal viscera",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "skeleton of lower jaw",
+ "Abnormal platelet morphology",
+ "peripheral nervous system",
+ "size of eyeball of camera-type eye phenotype",
+ "nerve of head region phenotype",
+ "Abdominal wall defect",
"Hernia of the abdominal wall",
- "connective tissue phenotype",
- "abdominal wall",
- "increased qualitatively response to stimulus",
- "Hernia",
- "herniated anatomical entity",
- "shape eyelid",
- "late embryo phenotype",
- "embryonic development/birth phenotype",
- "decreased number of anatomical entity in the blood",
- "eyelid",
- "Abnormality of prenatal development or birth",
+ "Abnormality of the abdominal wall",
+ "abdominal wall phenotype",
+ "anus atresia",
+ "anatomical entity hypoplasia",
+ "incomplete closing of the anatomical wall",
+ "Cranial nerve paralysis",
+ "Abnormality of connective tissue",
+ "gamete phenotype",
+ "phalanx phenotype",
+ "thoracic segment blood vessel",
+ "material anatomical entity, asymmetrically curved phenotype",
+ "Myelodysplasia",
"amniotic fluid",
- "amniotic fluid phenotype",
+ "gonad physiology phenotype",
+ "anterior segment of eyeball",
+ "great vessel of heart morphology phenotype",
"organism substance phenotype",
+ "Oligohydramnios",
+ "decreased size of the long bone",
+ "amniotic fluid phenotype",
"organism substance",
+ "late embryo phenotype",
"Abnormality of the amniotic fluid",
- "Abnormality of the curvature of the cornea",
+ "interatrial septum",
+ "heart",
+ "fused pedal digit and pedal digit",
+ "cardiac septum phenotype",
+ "interatrial septum morphology phenotype",
+ "anatomical projection",
+ "incomplete closing of the septum",
"late embryo",
- "bone of jaw phenotype",
- "Oligohydramnios",
- "number of cell phenotype",
- "localised testis",
- "Atrial septal defect",
- "cardiac atrium morphology phenotype",
+ "cardiac atrium",
+ "spinal cord morphology phenotype",
"incomplete closing of the interatrial septum",
- "cardiac atrium phenotype",
- "involuntary movement behavior",
- "Abnormal cardiac atrium morphology",
+ "cardiac septum morphology phenotype",
"Abnormal atrial septum morphology",
- "obsolete cell",
- "hypertrophic cardiac ventricle",
- "Aplasia/hypoplasia affecting bones of the axial skeleton",
- "increased size of the lateral structure",
- "Tetralogy of Fallot",
- "Sideroblastic anemia",
- "cardiac septum phenotype",
- "increased size of the cardiac ventricle",
- "increased size of the right cardiac chamber",
- "Abnormal choanae morphology",
- "increased size of the mesoderm-derived structure",
- "cardiac ventricle morphology in the heart phenotype",
- "subdivision of oviduct phenotype",
- "cardiovascular system physiology phenotype",
- "Visual impairment",
- "organ part morphology in the heart phenotype",
- "septum",
- "reflex",
+ "decreased height of the anatomical entity",
+ "bone of pectoral complex morphology phenotype",
+ "cardiac atrium phenotype",
+ "male reproductive system morphology phenotype",
"Conotruncal defect",
- "Abnormal ventriculoarterial connection",
- "decreased qualitatively developmental process",
- "increased volume of anatomical entity",
- "incomplete closing of the cardiac septum",
- "interventricular septum",
- "heart right ventricle morphology phenotype",
- "hypertrophic heart right ventricle",
- "increased size of the cardiac chamber",
- "Abnormal nasal morphology",
- "increased size of the heart right ventricle",
- "cellular developmental process",
- "Abnormal connection of the cardiac segments",
- "cardiac chamber morphology in the heart phenotype",
- "size of cardiac ventricle phenotype",
- "septum phenotype",
+ "male reproductive system physiology phenotype",
+ "pes morphology phenotype",
+ "Abnormality of eye movement",
+ "layer of muscle tissue phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "orbital region phenotype",
+ "layer of muscle tissue",
"decreased functionality of the material anatomical entity",
- "Hypertrophic cardiomyopathy",
- "decreased functionality of the anatomical entity",
- "interatrial septum",
- "decreased functionality of the mesoderm-derived structure",
"decreased functionality of the myocardium",
- "anatomical entity dysfunction in independent continuant",
- "blood cell",
- "neuromuscular process phenotype",
- "organ component layer physiology phenotype",
- "Abnormal male urethral meatus morphology",
- "Cardiomyopathy",
- "decreased functionality of the organ component layer",
+ "heart layer morphology phenotype",
"heart layer",
+ "manual digit digitopodial skeleton",
+ "decreased functionality of the organ component layer",
+ "vestibulo-ocular reflex",
+ "decreased qualitatively pigmentation",
+ "limb long bone",
+ "Hypertrophic cardiomyopathy",
"organ part physiology phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal pelvis/ureter",
- "multicellular anatomical structure physiology phenotype",
- "increased number of material anatomical entity",
+ "decreased functionality of the organ part",
"myocardium",
+ "anatomical entity dysfunction in independent continuant",
+ "erythroid lineage cell",
"mesoderm-derived structure physiology phenotype",
- "layer of muscle tissue phenotype",
- "decreased functionality of the organ part",
+ "male urethra",
+ "decreased multicellular organismal process",
+ "embryo development",
+ "vasculature of trunk phenotype",
+ "zeugopod phenotype",
+ "involuntary movement behavior",
"incomplete closing of the thoracic segment blood vessel",
- "incomplete closing of the vessel",
- "incomplete closing of the systemic artery",
"conceptus",
- "coronary vessel",
- "right cardiac chamber",
- "incomplete closing of the heart blood vessel",
- "anatomical structure morphology in the heart phenotype",
- "multicellular anatomical structure morphology in the heart phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
+ "blood",
+ "ureter morphology phenotype",
+ "incomplete closing of the trunk blood vessel",
+ "pelvic region element",
+ "dentary phenotype",
+ "trunk blood vessel phenotype",
"incomplete closing of the artery",
+ "incomplete closing of the heart blood vessel",
+ "limb bone phenotype",
+ "hindlimb joint phenotype",
+ "Patent ductus arteriosus",
"anatomical entity morphology in the heart phenotype",
- "trunk blood vessel phenotype",
- "incomplete closing of the mesoderm-derived structure",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "vasculature of trunk",
- "trunk blood vessel",
- "decreased spermatogenesis",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "incomplete closing of the trunk blood vessel",
- "cardiac chamber phenotype",
- "left cardiac chamber",
- "Abnormal aortic valve morphology",
- "aortic valve morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "cardiac chamber",
- "outflow tract",
- "cardiac valve",
- "outflow part of left ventricle morphology phenotype",
- "cellular process",
- "aortic valve",
- "decreased size of the orifice",
+ "uterus morphology phenotype",
"valve",
- "primary circulatory organ phenotype",
- "lower urinary tract",
- "Abnormality of the female genitalia",
+ "anatomical structure",
"heart left ventricle",
+ "immune system physiology phenotype",
+ "Abnormality of the mouth",
+ "chemosensory system phenotype",
+ "increased length of the multicellular anatomical structure",
+ "ocular adnexa",
+ "aortic valve",
+ "behavior",
+ "skull phenotype",
+ "valve phenotype",
+ "cardiac chamber",
+ "internal female genitalia morphology phenotype",
+ "left cardiac chamber",
+ "heart phenotype",
+ "outflow part of left ventricle morphology phenotype",
+ "gray matter",
"left cardiac chamber phenotype",
- "cardiac ventricle",
- "semi-lunar valve",
- "outflow tract of ventricle",
- "semi-lunar valve morphology phenotype",
- "heart morphology phenotype",
+ "Abnormality of the immune system",
"circulatory organ",
- "Abnormal heart valve morphology",
- "cardiac valve phenotype",
- "cardiac valve morphology phenotype",
- "cell phenotype",
- "outflow tract of ventricle phenotype",
+ "vertebral column morphology phenotype",
+ "developmental process",
+ "heart left ventricle morphology phenotype",
+ "outflow tract phenotype",
+ "root",
+ "material anatomical entity morphology in the heart phenotype",
+ "great vessel of heart phenotype",
+ "neuromuscular process",
+ "reproductive system physiology phenotype",
+ "Ventriculomegaly",
"thoracic cavity blood vessel phenotype",
- "aortic system",
- "aorta phenotype",
- "mandible",
- "aorta morphology phenotype",
- "aorta",
"great vessel of heart",
- "flat anatomical entity",
- "shape longitudinal arch of pes",
- "curvature anatomical entity",
- "haemolymphatic fluid",
+ "Visual impairment",
+ "decreased length of bone of free limb or fin",
+ "Abnormal aortic morphology",
+ "incomplete closing of the roof of mouth",
+ "size of anatomical entity phenotype",
"longitudinal arch of pes",
- "decreased number of anatomical structure",
"flat longitudinal arch of pes",
- "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "shape longitudinal arch of pes",
+ "organ component layer physiology phenotype",
+ "digestive system gland",
"fused pedal digit and anatomical entity",
- "fused anatomical entity and pedal digit",
- "anatomical entity morphology in the pelvic complex phenotype",
- "vasculature of organ phenotype",
- "fused pedal digit and pedal digit",
- "anatomical structure, asymmetrically curved phenotype",
- "Toe syndactyly",
- "decreased anatomical structure mass",
- "growth phenotype",
- "increased height of the neural crest-derived structure",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "material anatomical entity mass phenotype",
+ "Abnormal aortic valve morphology",
"Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased sensory perception",
- "growth",
"anatomical entity mass phenotype",
- "Weight loss",
- "developmental process rate phenotype",
- "Abnormality of body weight",
- "multicellular organism mass phenotype",
- "Abnormal forebrain morphology",
- "protruding anatomical entity",
- "skull morphology phenotype",
- "telencephalon phenotype",
- "formed ectoderm-derived structure",
- "limb skeleton subdivision phenotype",
- "Abnormal anterior eye segment morphology",
- "Abnormality iris morphology",
- "penis",
- "camera-type eye morphology phenotype",
- "abdominal segment bone phenotype",
- "Abnormality of the eye",
- "ganglion of peripheral nervous system",
- "formed organ subunit",
- "heart right ventricle",
- "craniocervical region",
- "anatomical line between pupils",
- "ocular adnexa",
- "formed multicellular anatomical structure",
- "internal female genitalia morphology phenotype",
- "increased size of the ventricle of nervous system",
- "neurocranium bone",
- "anterior chamber of eyeball",
- "decreased qualitatively pigmentation",
+ "skeletal system phenotype",
+ "growth phenotype",
+ "heart layer phenotype",
+ "decreased anatomical structure mass",
+ "Abnormal intestine morphology",
+ "decreased qualitatively visual perception",
+ "decreased material anatomical entity mass",
+ "pectoral appendage",
+ "decreased qualitatively nervous system process",
+ "decreased qualitatively reproductive process",
+ "multi cell part structure phenotype",
+ "Growth abnormality",
+ "organ subunit",
"forebrain",
- "trachea",
- "Microcephaly",
- "formed organ part",
- "Abnormal cranial nerve physiology",
- "embryo development ending in birth or egg hatching",
- "eye phenotype",
- "location of eyeball of camera-type eye phenotype",
- "hindlimb bone",
- "anterior uvea",
- "organism subdivision phenotype",
- "bicornuate anatomical entity",
- "cranial neuron projection bundle",
- "iris",
- "visual system phenotype",
- "anterior segment of eyeball morphology phenotype",
- "camera-type eye phenotype",
+ "Abnormal bone ossification",
+ "telencephalon",
+ "pallium",
+ "decreased qualitatively multicellular organismal reproductive process",
+ "cranial skeletal system phenotype",
+ "neurocranium bone",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Orofacial cleft",
+ "forehead",
+ "brain gray matter",
+ "system",
+ "brain phenotype",
+ "forebrain morphology phenotype",
+ "Abnormal nervous system physiology",
+ "vault of skull",
+ "dermal bone phenotype",
+ "Displacement of the urethral meatus",
+ "neurocranium bone phenotype",
+ "Abnormality of the ocular adnexa",
+ "tetrapod frontal bone morphology phenotype",
"limb bone",
- "Abnormality of the orbital region",
- "platelet phenotype",
- "non-connected functional system",
- "bone of pelvic complex morphology phenotype",
- "secondary palate",
- "multicellular organismal movement",
- "Abnormal palate morphology",
- "uvea",
- "Abnormal morphology of the great vessels",
- "Renal hypoplasia/aplasia",
- "increased number of anatomical structure",
- "upper limb segment",
- "limb segment phenotype",
- "Clinodactyly",
- "Abnormal frontal bone morphology",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "Abnormality of immune system physiology",
- "shape of external ear phenotype",
- "decreased length of orifice",
- "sensory system",
- "Abnormal ocular adnexa morphology",
- "Abnormality of the ear",
- "Dolichocephaly",
- "Abnormality of the outer ear",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "leukocyte morphology phenotype",
- "ocular adnexa phenotype",
- "Megacolon",
- "Abnormal gastrointestinal tract morphology",
- "multi cell part structure",
- "nervous system cell part layer phenotype",
- "bone of appendage girdle complex",
- "jaw region",
- "immaterial entity",
- "size of heart right ventricle phenotype",
- "entire sense organ system",
- "Abnormal eye morphology",
- "multi organ part structure phenotype",
- "Abnormality of the head",
- "external ear phenotype",
- "root",
- "heart plus pericardium",
- "Small intestinal stenosis",
- "nose",
- "Vertebral arch anomaly",
- "skin of head",
- "ectoderm-derived structure phenotype",
- "Abnormal long bone morphology",
- "forelimb bone phenotype",
- "upper leg bone",
- "digit morphology phenotype",
- "limb endochondral element phenotype",
- "Abnormality of the face",
- "continuant",
- "spatial pattern of anatomical entity phenotype",
- "organism",
- "oral cavity phenotype",
- "thoracic cavity element phenotype",
- "vestibulo-ocular reflex",
- "Abnormality of the hypothalamus-pituitary axis",
- "ear phenotype",
- "Abnormal cell morphology",
+ "dermatocranium phenotype",
+ "cerebral hemisphere gray matter",
+ "Abnormal cardiac septum morphology",
+ "cerebral hemisphere",
+ "heart blood vessel",
+ "skull morphology phenotype",
+ "sense organ phenotype",
+ "regional part of brain phenotype",
+ "cerebral cortex morphology phenotype",
+ "shape of frontal cortex phenotype",
+ "number of anatomical enitites of type organ part phenotype",
+ "neocortex morphology phenotype",
+ "musculature",
"increased pigmentation",
- "abdomen",
- "joint of girdle morphology phenotype",
- "midface",
- "subdivision of organism along appendicular axis",
- "vasculature",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "Abnormal carotid artery morphology",
- "orbital region phenotype",
- "soft palate",
- "uterus phenotype",
- "appendage girdle complex",
- "Proptosis",
- "Abnormal cerebral cortex morphology",
- "midface phenotype",
- "multicellular anatomical structure phenotype",
- "reproductive organ",
- "oral cavity",
- "increased size of the neural crest-derived structure",
- "Eukaryota",
- "anatomical system phenotype",
- "absent sperm in the semen",
- "palatine uvula phenotype",
- "decreased length of material anatomical entity",
- "face morphology phenotype",
- "cornea, curved phenotype",
- "orbital region",
- "soft palate morphology phenotype",
- "internal genitalia",
- "Pes planus",
- "anatomical structure formation involved in morphogenesis",
- "craniofacial/craniocervical phenotype",
- "Abnormal oral cavity morphology",
- "mouth",
- "zone of organ",
- "morphological feature",
- "female reproductive organ phenotype",
- "anatomical cavity phenotype",
- "drooping anatomical entity",
- "bone of pectoral complex phenotype",
- "Abnormal lower limb bone morphology",
- "tetrapod frontal bone phenotype",
- "multi-tissue structure",
- "head",
- "nose phenotype",
- "Abnormal eye physiology",
- "digit",
- "fused manual digit and manual digit",
- "renal/urinary system phenotype",
- "mandible morphology phenotype",
- "hypertrophic multicellular anatomical structure",
- "autopod region phenotype",
- "gonad",
- "pectoral appendage",
+ "subdivision of trunk phenotype",
+ "cortex of cerebral lobe",
+ "brain ventricle phenotype",
"dermatocranium",
- "Abnormality of the vasculature",
- "bone element",
- "large intestine phenotype",
+ "neurocranium",
+ "cranial bone",
+ "independent continuant",
+ "dermal skeletal element",
+ "lobe of cerebral hemisphere",
+ "increased size of the anatomical line",
+ "Abnormal jaw morphology",
+ "head bone phenotype",
+ "semi-lunar valve",
+ "cranial skeletal system",
"cranium",
- "organ subunit phenotype",
- "platelet",
- "Aplasia/Hypoplasia affecting the uvea",
- "male gamete generation phenotype",
- "decreased qualitatively multicellular organism development",
- "material anatomical entity phenotype",
- "Decreased fertility",
- "facial bone hypoplasia",
- "Abnormal ear morphology",
- "femur endochondral element",
- "nervous system morphology phenotype",
- "secretory cell",
- "Abnormal forearm bone morphology",
- "Decreased anatomical entity mass",
- "Abnormal morphology of ulna",
- "ear",
- "arm bone",
- "forelimb skeleton phenotype",
- "decreased number of leukocyte in the blood",
- "Absent testis",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "epithelium development",
- "Abnormal forearm morphology",
- "peripheral nervous system morphology phenotype",
- "vertebral column",
+ "dermal skeletal element phenotype",
+ "Abnormal calvaria morphology",
+ "forehead phenotype",
+ "neuromuscular process phenotype",
+ "pelvic region of trunk",
+ "increased reflex",
+ "primary subdivision of cranial skeletal system phenotype",
+ "vault of skull phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "skeleton of lower jaw phenotype",
+ "increased length of the anatomical entity",
+ "Abnormal size of the palpebral fissures",
+ "Abnormality of refraction",
+ "tube closure phenotype",
+ "neurocranium morphology phenotype",
+ "cranial bone phenotype",
+ "bone of pelvic complex",
+ "membrane bone phenotype",
+ "Abnormal vascular morphology",
+ "forebrain phenotype",
+ "pedal digitopodium bone phenotype",
+ "nose",
"anus",
- "membrane bone",
- "zeugopodial skeleton",
- "innominate bone",
- "anatomical entity morphology phenotype",
- "pectoral complex",
- "Aplasia/Hypoplasia of the iris",
- "skeleton of pedal digitopodium",
- "increased response to external stimulus",
- "independent continuant",
- "increased size of the zone of organ",
- "olfactory system phenotype",
- "bone of pectoral complex",
- "Abnormality of the upper limb",
- "bone of free limb or fin",
- "fused anatomical entity and digit",
- "manus bone",
- "ulna",
- "Short long bone",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "forelimb zeugopod bone",
- "brain ventricle",
- "reproductive system morphology phenotype",
+ "neocortex",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "closing of the anatomical entity",
+ "Anal atresia",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "compound organ physiology phenotype",
+ "material anatomical entity atresia",
+ "increased height of the structure with developmental contribution from neural crest",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "closing of the material anatomical entity",
+ "decreased length of anatomical entity",
+ "olfactory organ phenotype",
+ "cardiac chamber phenotype",
+ "ventricle of nervous system",
+ "increased size of the organ component layer",
+ "digit 1 plus metapodial segment",
+ "decreased number of platelet",
+ "ventricular system of brain",
+ "increased size of the material anatomical entity",
+ "Abnormal brain morphology",
+ "increased qualitatively biological_process",
+ "anatomical structure atresia",
+ "radius endochondral element",
+ "brain ventricle/choroid plexus",
+ "increased size of the brain ventricle/choroid plexus",
+ "decreased functionality of the anatomical entity",
+ "shape uterus",
+ "brain morphology phenotype",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "increased size of the ectoderm-derived structure",
+ "oviduct phenotype",
+ "brain",
+ "ventricular system of central nervous system",
"increased length of the skin of head",
- "hypothalamus-pituitary axis phenotype",
- "Abnormal uvula morphology",
+ "Renal hypoplasia/aplasia",
+ "size of brain ventricle phenotype",
+ "decreased biological_process in skin of body",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "ileum",
+ "Abnormal ileum morphology",
+ "lower digestive tract",
+ "large intestine morphology phenotype",
+ "sensory perception of sound phenotype",
+ "increased length of the head or neck skin",
+ "ductus arteriosus",
+ "enteric ganglion",
+ "Abnormal large intestine morphology",
+ "autonomic nervous system",
+ "Aganglionic megacolon",
+ "large intestine phenotype",
+ "pectoral complex",
+ "Megacolon",
+ "musculoskeletal system",
+ "palpebral fissure phenotype",
+ "autonomic ganglion",
+ "ganglion of peripheral nervous system",
+ "large intestine",
+ "shape palpebral fissure",
+ "alimentary part of gastrointestinal system phenotype",
+ "cardiac valve",
+ "Hypoplasia of the ulna",
+ "ganglion",
+ "pelvic girdle bone/zone",
+ "Abnormal autonomic nervous system morphology",
+ "autonomic nervous system phenotype",
+ "future nervous system",
+ "Abnormal neural tube morphology",
+ "vertebral element",
"epithelial tube",
- "Abnormal pinna morphology",
- "hip",
- "Abnormal vascular morphology",
- "skeleton of lower jaw",
- "Abnormality of reproductive system physiology",
- "forelimb phenotype",
- "vessel",
- "circulatory system",
- "circulatory system phenotype",
- "decreased size of the anatomical structure",
- "blood vessel",
- "tissue morphogenesis",
- "vertebra phenotype",
- "anatomical cluster",
- "cardiovascular system phenotype",
- "increased height of the ectoderm-derived structure",
- "decreased size of the ectoderm-derived structure",
- "incomplete closing of the blood vessel",
- "vasculature phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "cardiovascular system morphology phenotype",
- "digestive system element",
- "limb bone morphology phenotype",
- "vascular system morphology phenotype",
- "bone of lower jaw phenotype",
- "dermal skeletal element phenotype",
- "immaterial anatomical entity",
- "Abnormal cardiovascular system morphology",
- "blood vasculature",
- "size of skull phenotype",
- "digit 5",
- "Hypogonadism",
- "venous blood vessel",
- "erythrocyte",
- "absent sperm",
- "Hypospadias",
- "cardiac septum",
- "artery",
- "digestive tract",
- "skeleton of limb",
- "disconnected anatomical group",
- "ectoderm-derived structure, curved phenotype",
- "Abnormal male external genitalia morphology",
- "anatomical cluster phenotype",
- "trunk phenotype",
- "bone of lower jaw",
- "Abnormality of the kidney",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "ulna endochondral element",
- "compound organ",
- "Abnormal spinal cord morphology",
- "behavior phenotype",
- "duodenum",
- "excretory system",
- "anatomical projection",
- "paired limb/fin segment",
- "arm bone phenotype",
- "Abnormal localization of kidney",
- "subdivision of trunk phenotype",
- "haemolymphatic fluid phenotype",
- "anatomical structure morphogenesis",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "Abnormal cellular phenotype",
- "male organism",
- "subdivision of organism along main body axis",
- "limb long bone phenotype",
- "kidney morphology phenotype",
- "decreased functionality of the reproductive structure",
- "anatomical cavity",
- "decreased size of the material anatomical entity in the pectoral complex",
- "sense organ phenotype",
- "lower limb segment phenotype",
- "ecto-epithelium",
- "renal system",
- "Abnormal tracheal morphology",
- "abdomen element phenotype",
- "decreased multicellular organism development",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "Abnormal nervous system morphology",
- "immaterial anatomical entity phenotype",
- "cavitated compound organ",
- "bone of pectoral complex morphology phenotype",
- "trunk",
- "Abnormal facial shape",
+ "eukaryotic cell",
+ "presumptive structure",
+ "embryonic structure",
+ "lower respiratory tract",
+ "increased length of the anatomical line between pupils",
+ "central nervous system morphology phenotype",
+ "Deviation of finger",
+ "incomplete closing of the anatomical entity",
+ "system development",
+ "cerebral hemisphere morphology phenotype",
+ "embryonic morphogenesis",
+ "Spina bifida",
+ "digestive system gland phenotype",
+ "Irregular hyperpigmentation",
+ "aortic system",
+ "tube formation phenotype",
"tracheobronchial tree",
- "simple eye",
- "Abnormal blood vessel morphology",
- "Abnormality of lower limb joint",
- "genitourinary system",
- "material anatomical entity morphology in the heart phenotype",
- "reproductive system",
- "Opisthokonta",
- "craniocervical region morphology phenotype",
- "Abnormal preputium morphology",
- "reproductive structure phenotype",
- "Abnormal facial skeleton morphology",
- "ectoderm-derived structure",
- "increased number of ectoderm-derived structure",
- "multicellular organismal movement phenotype",
- "prepuce",
- "forelimb zeugopod bone morphology phenotype",
- "anatomical wall",
- "jaw skeleton",
- "penis phenotype",
- "Global developmental delay",
- "paralysed cranial nerve",
+ "anatomical entity hypoplasia in face",
+ "increased size of the neural crest-derived structure",
+ "Upslanted palpebral fissure",
+ "manual digit 1 phalanx endochondral element",
+ "multicellular organism development",
+ "Abnormal umbilicus morphology",
+ "orifice phenotype",
+ "spinal cord",
+ "appendage girdle region",
+ "vertebra morphology phenotype",
+ "primary neural tube formation",
+ "Neural tube defect",
+ "irregular bone",
+ "erythrocyte morphology phenotype",
+ "ecto-epithelium",
+ "Hypertelorism",
+ "arch of centrum of vertebra phenotype",
+ "Abnormal reproductive system morphology",
+ "dorsal region element phenotype",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "neural tube development",
+ "fused manual digit and manual digit",
+ "Abnormal axial skeleton morphology",
+ "small intestine morphology phenotype",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "musculoskeletal movement",
+ "irregular bone phenotype",
+ "vertebral element phenotype",
+ "mouth",
+ "forelimb long bone phenotype",
+ "Deviation of the 5th finger",
+ "epithelium development",
+ "sense organ",
+ "morphogenesis of embryonic epithelium",
+ "sensory perception of light stimulus phenotype",
+ "embryo development ending in birth or egg hatching",
+ "tissue",
+ "semi-lunar valve morphology phenotype",
+ "closing of the multicellular anatomical structure",
+ "incomplete closing of the arch of centrum of vertebra",
+ "incomplete closing of the material anatomical entity",
"intromittent organ",
- "forelimb zeugopod morphology phenotype",
- "incomplete closing of the roof of mouth",
- "pelvic appendage skeleton phenotype",
- "manual digitopodium region",
- "multi organ part structure physiology phenotype",
- "Umbilical hernia",
- "cardiac ventricle phenotype",
- "Ventriculomegaly",
- "decreased qualitatively multicellular organismal reproductive process",
- "anatomical collection",
- "eyelid morphology phenotype",
- "increased size of the organ part",
- "acropodial skeleton",
- "olfactory organ phenotype",
- "Abnormal limb bone morphology",
- "Duodenal stenosis",
- "closing of the ectoderm-derived structure",
- "delayed growth",
- "embryo development phenotype",
+ "neural tube closure",
+ "embryonic epithelial tube formation",
+ "nervous system cell part layer phenotype",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "anatomical structure development",
+ "external genitalia phenotype",
+ "face",
+ "anatomical structure formation involved in morphogenesis",
+ "common carotid artery plus branches",
+ "trachea",
+ "embryo",
+ "internal naris atresia",
+ "Abnormal spinal cord morphology",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "upper digestive tract",
+ "bone of craniocervical region",
+ "respiratory tube",
+ "respiratory tract",
+ "Decreased anatomical entity mass",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic segment of trunk",
+ "Abnormal respiratory system physiology",
+ "increased size of the anatomical structure",
+ "nose phenotype",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "Abnormal esophagus morphology",
+ "decreased size of the eyeball of camera-type eye",
+ "voluntary movement behavior",
+ "neuron projection bundle",
+ "viscus phenotype",
+ "reflex phenotype",
+ "hematopoietic system phenotype",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "viscus",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "decreased number of leukocyte",
+ "facial skeleton phenotype",
+ "endochondral bone phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "fused digit and digit",
+ "tracheobronchial tree morphology phenotype",
+ "thoracic cavity element phenotype",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "appendage",
+ "stylopod",
+ "femur endochondral element",
+ "hindlimb stylopod",
+ "Abnormal femur morphology",
+ "limb phenotype",
+ "bone of hip region",
+ "Abnormal internal genitalia",
+ "leg bone",
"femur",
- "prepuce of penis",
- "compound organ phenotype",
- "limb long bone morphology phenotype",
- "myocardium phenotype",
- "biological_process rate phenotype",
- "decreased size of the endochondral element",
- "Abnormal leukocyte count",
- "phalanx of pes phenotype",
- "behavior process",
- "nerve of head region phenotype",
- "Abnormal cellular immune system morphology",
- "pedal digitopodium bone",
- "gamete generation phenotype",
- "multicellular anatomical structure",
- "neural tube formation",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "prepuce of penis phenotype",
- "morphological feature phenotype",
- "subdivision of skeleton",
- "lower limb segment",
- "shape of continuant phenotype",
- "Aplasia/Hypoplasia of the uvula",
- "arm phenotype",
- "clavate digit",
- "integumental system phenotype",
- "digitopodium bone",
- "phalanx of pes",
- "decreased length of mesoderm-derived structure",
- "autopod endochondral element",
- "phalanx morphology phenotype",
+ "Abnormal finger morphology",
+ "eyeball of camera-type eye phenotype",
+ "formed anterior chamber of eyeball",
+ "external ear morphology phenotype",
+ "girdle skeleton phenotype",
+ "Abnormal hip joint morphology",
+ "male organism",
+ "Aplasia/hypoplasia of the extremities",
+ "pelvic girdle region",
+ "aplasia or hypoplasia of telencephalon",
+ "pelvic girdle bone/zone phenotype",
+ "anterior chamber of eyeball morphology phenotype",
+ "anatomical entity dislocation",
+ "homeostasis of number of cells",
+ "forelimb long bone",
+ "girdle bone/zone phenotype",
+ "hip",
+ "Abnormality of the genitourinary system",
+ "transparent eye structure",
+ "autopodial extension phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Neoplasm by anatomical site",
+ "innominate bone phenotype",
+ "Anemia",
+ "anatomical structure, asymmetrically curved phenotype",
+ "connective tissue phenotype",
+ "pedal digit phalanx endochondral element",
+ "flattened anatomical entity",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "Abnormality of the musculoskeletal system",
+ "endochondral element phenotype",
+ "pectoral appendage skeleton",
+ "skeletal joint phenotype",
+ "forelimb bone phenotype",
+ "reflexive behavior",
+ "organ part",
+ "duodenum phenotype",
+ "pelvic girdle bone/zone morphology phenotype",
+ "limb joint",
+ "Weight loss",
+ "skeletal system",
+ "axial skeletal system",
+ "flat bone",
+ "nervous system morphology phenotype",
+ "Hematological neoplasm",
+ "synovial joint of pelvic girdle morphology phenotype",
"deviation of manual digit 5 towards the middle",
- "Abnormal hip bone morphology",
- "reproductive system phenotype",
- "autopodial extension",
- "decreased qualitatively anatomical structure development",
- "musculature of body",
- "limb segment",
- "heart layer phenotype",
- "Aplasia/Hypoplasia of the testes",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "musculoskeletal system",
- "hindlimb morphology phenotype",
- "skeletal element",
- "Arteriovenous malformation",
- "joint of girdle",
- "localised material anatomical entity",
- "upper jaw region",
- "frontal cortex",
- "Abnormality of limbs",
- "cellular organisms",
- "hindlimb endochondral element",
- "respiratory system morphology phenotype",
- "head or neck skin",
- "Abnormal anus morphology",
- "appendage",
- "decreased length of bone of pectoral complex",
- "pedal digit bone",
- "manual digit phenotype",
- "bodily fluid phenotype",
- "response to stimulus",
- "spinal cord morphology phenotype",
- "anatomical structure development",
- "limb endochondral element",
- "Abnormal oral morphology",
- "hip joint morphology phenotype",
- "subdivision of skeletal system",
- "brain gray matter phenotype",
- "heart",
- "hindlimb phenotype",
- "musculoskeletal system phenotype",
- "digestive system gland",
- "endoderm-derived structure phenotype",
- "decreased number of anatomical entity",
- "cranial bone phenotype",
- "postcranial axial skeleton",
- "outflow tract phenotype",
- "Abnormality of the integument",
+ "vasculature",
+ "girdle skeleton",
+ "skeletal joint",
+ "trunk bone",
+ "arch of centrum of vertebra",
+ "synovial joint phenotype",
+ "pelvic region element phenotype",
+ "zone of organ phenotype",
+ "hemolymphoid system",
+ "decreased size of the ectoderm-derived structure",
+ "physiologic nystagmus",
+ "anatomical structure physiology phenotype",
+ "pes phenotype",
+ "dermal skeleton phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb zeugopod bone hypoplasia",
+ "decreased size of the endochondral element",
+ "decreased length of limb bone",
+ "Upper limb undergrowth",
+ "Abnormality of the skeletal system",
+ "decreased size of the endochondral bone",
+ "female organism phenotype",
"circulatory organ phenotype",
- "external ear",
- "anatomical structure",
- "Abnormal cellular physiology",
- "abdominal segment element",
- "decreased size of the organ",
- "outflow part of left ventricle",
- "arm",
- "skeleton of limb phenotype",
- "clavate anatomical entity",
- "closing of the anatomical structure",
- "umbilicus",
- "organ component layer",
- "ear morphology phenotype",
- "Unusual infection",
- "malformed anatomical entity",
- "phenotypic effect",
- "fused digit and anatomical entity",
- "brain ventricle phenotype",
- "bodily fluid",
- "mesoderm-derived structure morphology in the heart phenotype",
- "pelvic appendage phenotype",
- "Abnormal external genitalia",
- "skin of face",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "subdivision of oviduct",
- "ventricle of nervous system phenotype",
- "central nervous system cell part cluster",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "cerebrospinal fluid",
- "Abnormal toe morphology",
- "decreased functionality of the anatomical structure",
- "bone element phenotype",
- "multicellular organism morphology phenotype",
+ "articulation phenotype",
+ "incomplete closing of the cardiac septum",
+ "forelimb",
+ "incomplete closing of the vessel",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "limb segment phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "cranium morphology phenotype",
+ "digestive system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "morphogenesis of an epithelium",
+ "decreased length of forelimb zeugopod bone",
+ "decreased length of arm bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "joint of girdle",
+ "Forearm undergrowth",
+ "Meckel diverticulum",
+ "innominate bone",
+ "multicellular organism mass phenotype",
"decreased length of long bone",
- "Abnormality of the mouth",
- "Aplasia/Hypoplasia of the cerebrum",
+ "leukocyte morphology phenotype",
+ "forelimb zeugopod skeleton",
+ "ductus arteriosus morphology phenotype",
+ "kidney morphology phenotype",
+ "upper urinary tract phenotype",
+ "decreased size of the forelimb endochondral element",
+ "posterior nasal aperture atresia",
+ "Abnormal renal morphology",
+ "incomplete closing of the anatomical conduit",
+ "anatomical entity length phenotype",
+ "decreased size of the forelimb zeugopod bone",
"pes bone phenotype",
- "response to external stimulus",
- "axial skeletal system",
- "Abnormal shape of the palpebral fissure",
- "limb morphology phenotype",
- "Abnormal vestibular function",
- "multi-tissue structure phenotype",
- "anatomical entity",
- "hindlimb endochondral element phenotype",
- "skeleton of lower jaw phenotype",
- "fused anatomical entity and manual digit",
+ "fused anatomical entity and digit",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of bone of pectoral complex",
+ "renal/urinary system phenotype",
+ "decreased length of organ",
+ "neural tube formation",
+ "Abnormality of the lower limb",
+ "decreased size of the organ",
+ "incomplete closing of the coronary vessel",
"ulna hypoplasia",
- "Abnormal penis morphology",
- "sperm",
- "forelimb zeugopod skeleton",
- "epithelium",
- "gamete generation",
- "Abnormal heart morphology",
- "reproductive structure",
- "decreased length of palpebral fissure",
- "formed anterior chamber of eyeball",
- "zone of organ phenotype",
- "endoderm-derived structure",
- "hindlimb long bone phenotype",
- "nerve phenotype",
- "brain ventricle morphology phenotype",
- "bone element hypoplasia in face",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "skeletal system morphology phenotype",
- "digit 1 phenotype",
- "membrane bone phenotype",
+ "abdomen element physiology phenotype",
+ "system process",
+ "decreased size of the skeletal element",
+ "anatomical conduit",
+ "ossification",
+ "decreased size of the bone element",
+ "subdivision of skeleton",
+ "decreased length of material anatomical entity",
+ "central nervous system cell part cluster",
+ "decreased length of endochondral element",
+ "telencephalon phenotype",
+ "Opisthokonta",
+ "digit 1 or 5",
+ "Duodenal stenosis",
+ "prepuce",
+ "digit 5",
+ "Hypospadias",
+ "immaterial entity",
+ "manual digit 5 morphology phenotype",
+ "ocular adnexa phenotype",
+ "esophagus phenotype",
+ "decreased length of anatomical conduit",
+ "excretory system",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "decreased size of the bone of free limb or fin",
+ "Abnormality of the lower urinary tract",
+ "long bone phenotype",
+ "bone of jaw",
+ "Finger clinodactyly",
+ "Clinodactyly",
+ "Abnormality of thrombocytes",
+ "anatomical system physiology phenotype",
+ "decreased length of bone element",
+ "deviation of digit towards the middle",
+ "Morphological central nervous system abnormality",
+ "intestine phenotype",
+ "formed anatomical structure",
+ "location of anatomical entity phenotype",
+ "taxon specific phenotype",
+ "Hip dislocation",
+ "nervous system phenotype",
+ "brain ventricle/choroid plexus phenotype",
+ "deviation of anatomical entity towards the middle",
+ "axial skeleton plus cranial skeleton",
+ "Clinodactyly of the 5th finger",
"endochondral element",
- "nervous system development",
- "Abnormal tracheobronchial morphology",
- "large intestine morphology phenotype",
- "kinesthetic behavior",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "ileum",
+ "deviation of manual digit towards the middle",
+ "deviation of anatomical entity",
+ "hindlimb morphology phenotype",
+ "lower jaw region",
+ "Deviation of the hand or of fingers of the hand",
+ "decreased pigmentation in multicellular organism",
+ "Renal insufficiency",
+ "cardiac atrium morphology phenotype",
+ "bone element mass density phenotype",
+ "Abnormality of bone mineral density",
+ "visual perception",
+ "Abnormal appendicular skeleton morphology",
+ "Decreased anatomical entity mass density",
+ "cardiovascular system",
+ "Abnormality of the nose",
+ "neuron projection bundle phenotype",
+ "Decreased bone element mass density",
+ "Abnormal ear morphology",
+ "systemic arterial system",
+ "decreased size of the sense organ",
+ "Abnormal myocardium morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "Abnormal carotid artery morphology",
+ "artery phenotype",
+ "tissue morphogenesis",
+ "arterial blood vessel phenotype",
+ "increased height of the multicellular anatomical structure",
+ "cardiac valve morphology phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "common carotid artery plus branches morphology phenotype",
+ "blood vessel morphology phenotype",
+ "Abnormal male urethral meatus morphology",
+ "musculature of body",
+ "Abnormality of reproductive system physiology",
+ "bone of free limb or fin phenotype",
+ "Pyridoxine-responsive sideroblastic anemia",
+ "limb skeleton subdivision phenotype",
+ "head phenotype",
"musculature of body phenotype",
- "pedal digit",
- "anus phenotype",
- "digitopodium region",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "decreased gamete generation",
- "anatomical system",
- "subdivision of digestive tract",
- "body proper",
- "Abnormality of eye movement",
- "subdivision of organism along appendicular axis phenotype",
- "tube phenotype",
- "posterior nasal aperture phenotype",
- "3-D shape anatomical entity",
- "primary subdivision of skull",
- "palpebral fissure phenotype",
- "Aplasia/Hypoplasia of the ulna",
- "upper urinary tract phenotype",
- "right cardiac chamber phenotype",
- "mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "appendicular skeletal system",
- "posterior region of body",
- "digit phenotype",
- "decreased biological_process",
- "manual digit 5 morphology phenotype",
- "regional part of brain",
- "decreased material anatomical entity mass",
- "male reproductive organ phenotype",
- "incomplete closing of the anatomical wall",
- "anatomical conduit",
+ "upper leg bone",
+ "vessel phenotype",
+ "liver phenotype",
+ "thoracic cavity element",
+ "tube",
+ "blood vessel phenotype",
+ "systemic artery morphology phenotype",
+ "fused digit and anatomical entity",
"multicellular organism",
- "hip joint",
- "Abnormal soft palate morphology",
- "Abnormality of the digestive system",
- "developmental process involved in reproduction phenotype",
- "hindlimb bone phenotype",
- "immune system morphology phenotype",
- "endochondral bone",
- "bone of free limb or fin phenotype",
- "Abnormal reflex",
- "bone of pelvic complex phenotype",
- "Abnormal myeloid cell morphology",
- "leg",
- "Abnormality of the urinary system",
- "face phenotype",
- "eukaryotic cell",
- "manual digit 1 phalanx endochondral element",
- "dermal bone phenotype",
- "primary subdivision of cranial skeletal system phenotype",
- "digestive system phenotype",
- "Neurodevelopmental delay",
- "decreased length of forelimb bone",
- "vertebra",
- "venous system",
- "quality",
- "duodenum morphology phenotype",
- "Upper limb undergrowth",
- "limb joint",
- "pelvic appendage",
- "hindlimb skeleton phenotype",
- "male reproductive system",
- "localised male reproductive organ",
- "cardiac ventricle morphology phenotype",
- "leg phenotype",
- "small intestine",
- "autopod region morphology phenotype",
- "chamber of eyeball",
+ "fused anatomical entity and manual digit",
+ "midface",
+ "fused anatomical entity and anatomical entity",
+ "manual digit",
+ "closing of the anatomical conduit",
+ "vertebra phenotype",
"abdomen element",
- "Abnormal appendicular skeleton morphology",
- "material anatomical entity atresia",
- "material entity",
- "sloped anatomical entity",
- "head morphology phenotype",
- "embryonic epithelial tube formation",
- "organ",
- "taxon specific phenotype",
- "material anatomical entity mass phenotype",
- "Abnormality of the male genitalia",
+ "manual digit plus metapodial segment",
+ "vasculature of organ",
+ "anatomical entity morphology in the manus phenotype",
+ "curvature anatomical entity",
+ "segment of manus",
+ "central nervous system gray matter layer",
+ "manus",
+ "All",
+ "synovial joint",
+ "skeleton of manus",
+ "manual digitopodium region",
+ "cellular organisms",
+ "digit 1 or 5 phenotype",
+ "hindlimb joint",
+ "manus phenotype",
+ "hindlimb long bone phenotype",
+ "Abnormality of lower limb joint",
+ "gray matter of forebrain phenotype",
+ "Abnormal hand morphology",
+ "ectoderm-derived structure physiology phenotype",
+ "incomplete closing of the organ part",
+ "aplasia or hypoplasia of skeleton",
+ "nervous system physiology phenotype",
+ "external male genitalia phenotype",
+ "decreased size of the arm bone",
+ "manual digit 5",
+ "penis morphology phenotype",
+ "paralysed anatomical entity",
+ "cranial nerve physiology phenotype",
+ "cranial neuron projection bundle phenotype",
+ "tissue development",
+ "Abnormal lower limb bone morphology",
+ "joint of girdle morphology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "nerve phenotype",
"homeostatic process",
- "organ system subdivision phenotype",
- "eye physiology phenotype",
+ "zone of skin morphology phenotype",
+ "autopod bone",
+ "musculoskeletal system phenotype",
+ "biological_process phenotype",
+ "anatomical entity morphology in the brain phenotype",
+ "uvea morphology phenotype",
+ "decreased length of forelimb bone",
+ "non-material anatomical boundary",
+ "erythrocyte",
+ "morphological feature phenotype",
+ "Localized skin lesion",
+ "organ physiology phenotype",
"manual digit 1 or 5",
- "delayed biological_process",
- "anatomical space",
- "multi organ part structure",
- "phalanx phenotype",
- "appendage phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
+ "eyelid",
+ "sloped anatomical entity",
+ "decreased size of the forelimb bone",
+ "hip joint morphology phenotype",
+ "circulatory system phenotype",
+ "process",
+ "subdivision of head phenotype",
+ "Hyperpigmentation of the skin",
+ "Abnormality of skin pigmentation",
+ "phalanx",
+ "Abnormal hip bone morphology",
+ "subdivision of organism along main body axis",
+ "Cafe-au-lait spot",
+ "uterus",
+ "semen",
+ "decreased size of the mesoderm-derived structure",
+ "dorsum",
+ "pelvic appendage phenotype",
+ "multi-limb segment region phenotype",
+ "Hypermelanotic macule",
+ "integumental system",
+ "Abnormal frontal bone morphology",
+ "skin of body",
+ "cardiac septum",
+ "decreased system process",
+ "nerve of head region",
+ "gray matter of forebrain",
+ "skin of body phenotype",
+ "Macule",
+ "increased pigmentation in skin of body",
+ "Decreased body weight",
+ "cerebral cortex",
+ "zone of bone organ phenotype",
+ "Abnormality of chromosome stability",
+ "shape of continuant phenotype",
+ "integument phenotype",
+ "pelvic appendage skeleton",
+ "biological_process rate phenotype",
+ "decreased anatomical structure development",
+ "Limb undergrowth",
+ "male gamete generation phenotype",
+ "embryonic tissue",
+ "anatomical wall",
+ "anatomical wall phenotype",
+ "vascular system",
+ "systemic artery",
+ "Abnormality of the kidney",
+ "biological_process",
+ "developing anatomical structure",
+ "myeloid cell differentiation",
+ "Abnormal anterior eye segment morphology",
+ "gray matter phenotype",
+ "formed organ subunit",
+ "absent material anatomical entity in the multicellular organism",
+ "main body axis",
+ "aplasia or hypoplasia of ulna",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "location of eyeball of camera-type eye phenotype",
+ "frontal cortex",
+ "articulation",
"arterial system",
- "bone of pelvic complex",
- "sense organ",
- "increased length of the non-material anatomical boundary",
- "phalanx endochondral element phenotype",
- "pes morphology phenotype",
- "thoracic cavity blood vessel",
- "synovial joint of pelvic girdle",
- "nervous system",
- "digestive system morphology phenotype",
- "duodenum phenotype",
- "digestive system element phenotype",
- "upper urinary tract",
- "anatomical space phenotype",
- "digestive system",
- "secondary palate morphology phenotype",
- "appendicular skeleton morphology phenotype",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "decreased number of hematopoietic cell",
- "trunk region element phenotype",
- "Abnormal digit morphology",
- "Displacement of the urethral meatus",
- "anatomical entity length phenotype",
- "Abnormal reproductive system morphology",
- "opaque anatomical entity",
- "thoracic segment organ",
+ "outflow tract of ventricle",
+ "organ component layer phenotype",
+ "vision/eye phenotype",
+ "formed ectoderm-derived structure",
+ "camera-type eye morphology phenotype",
+ "multicellular organismal process",
+ "ureter",
+ "pedal digit digitopodial skeleton",
+ "camera-type eye phenotype",
+ "female reproductive organ",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "heart plus pericardium",
+ "visual system",
+ "digit morphology phenotype",
+ "sensory perception phenotype",
+ "simple eye",
+ "iris",
+ "increased size of the multi-tissue structure",
+ "anterior chamber of eyeball",
+ "head bone morphology phenotype",
+ "formed multicellular anatomical structure",
+ "anatomical structure formation involved in morphogenesis phenotype",
+ "response to external stimulus",
+ "Aplasia/Hypoplasia of the iris",
+ "Ocular anterior segment dysgenesis",
"abdominal segment element phenotype",
- "musculature phenotype",
- "pedal digitopodium bone phenotype",
- "internal naris atresia",
- "interatrial septum morphology phenotype",
- "tube",
- "subdivision of tube phenotype",
- "formed anatomical structure",
- "internal male genitalia phenotype",
- "Abnormal testis morphology",
- "All",
+ "Cleft palate",
+ "zeugopodial skeleton",
+ "simple eye phenotype",
+ "iris phenotype",
+ "malformed anatomical entity",
+ "clavate anatomical entity",
+ "sensory system",
+ "external soft tissue zone",
+ "ear morphology phenotype",
+ "ear",
+ "neoplasm phenotype",
+ "Abnormal 5th finger morphology",
+ "vestibulo-auditory system phenotype",
+ "intestine morphology phenotype",
+ "anterior segment of eyeball morphology phenotype",
+ "vestibulo-auditory system",
+ "Syndactyly",
+ "coronary vessel morphology phenotype",
+ "Abnormality of the liver",
+ "Abnormal long bone morphology",
+ "oral cavity phenotype",
+ "aorta phenotype",
+ "increased biological_process in skin of body",
+ "shape of external ear phenotype",
+ "Abnormal connection of the cardiac segments",
+ "Abnormal heart morphology",
"digit 5 plus metapodial segment",
- "acropodium region",
- "aplasia or hypoplasia of ulna",
- "lower digestive tract",
- "anatomical entity phenotype",
- "increased height of the anatomical structure",
- "anatomical structure physiology phenotype",
- "hepatobiliary system",
- "limb skeleton subdivision",
- "Abnormal small intestine morphology",
- "segment of pes",
- "vein",
- "paired limb/fin",
- "localised gonad",
- "Abnormal duodenum morphology",
- "vessel phenotype",
- "Abnormal curvature of the vertebral column",
- "specifically dependent continuant",
- "developmental process phenotype",
- "Abnormal toe phalanx morphology",
- "manus phenotype",
- "Aplasia/Hypoplasia affecting the eye",
- "vestibulo-ocular reflex phenotype",
- "increased size of the organ component layer",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "increased length of the zone of organ",
- "eyeball of camera-type eye phenotype",
"multicellular organism phenotype",
- "anatomical entity dislocation",
- "structure with developmental contribution from neural crest phenotype",
- "cortex of cerebral lobe",
- "nervous system phenotype",
- "Clubbing",
- "limb phenotype",
+ "palatine uvula morphology phenotype",
+ "aplasia or hypoplasia of uvea",
+ "skeletal element",
+ "Abnormality of the outer ear",
+ "secondary palate",
+ "Abnormal oral cavity morphology",
+ "primary circulatory organ phenotype",
+ "Abnormal palate morphology",
+ "anatomical entity mass density phenotype",
+ "craniofacial/craniocervical phenotype",
+ "mandible hypoplasia",
+ "Aplasia/Hypoplasia of the uvula",
+ "reproductive process",
+ "gonad",
+ "enteric nervous system",
+ "subdivision of trunk",
+ "Abnormal bone structure",
+ "anatomical projection phenotype",
+ "appendage phenotype",
+ "flat bone phenotype",
+ "midface morphology phenotype",
+ "flat anatomical entity",
+ "mouth morphology phenotype",
+ "decreased length of limb endochondral element",
+ "mouth phenotype",
+ "innominate bone morphology phenotype",
+ "Abnormal anus morphology",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "neural crest-derived structure phenotype",
+ "Abnormal soft palate morphology",
+ "tube morphogenesis",
+ "respiratory system morphology phenotype",
+ "reproductive system phenotype",
+ "Metazoa",
+ "Abnormality iris morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "morphological feature",
+ "multicellular anatomical structure morphology in the heart phenotype",
+ "anatomical space phenotype",
+ "tetrapod frontal bone",
+ "voluntary movement behavior phenotype",
+ "Abnormality of the upper limb",
+ "Abnormality of the eye",
+ "immaterial anatomical entity",
"shape digit",
- "central nervous system phenotype",
- "external male genitalia",
- "manual digit plus metapodial segment",
- "forelimb",
- "renal system morphology phenotype",
- "camera-type eye",
- "skeleton of pedal acropodium",
- "heart layer morphology phenotype",
- "skeletal element phenotype",
- "pedal digit morphology phenotype",
- "prepuce of penis morphology phenotype",
- "Reduced bone mineral density",
- "Aplasia/hypoplasia involving bones of the extremities",
- "increased height of the structure with developmental contribution from neural crest",
- "Abnormal umbilicus morphology",
- "tube development",
- "Abnormal cerebral ventricle morphology",
- "Abnormal foot morphology",
- "pedal digit phenotype",
- "Abnormal peripheral nervous system morphology",
- "testis",
- "long bone phenotype",
- "dermal skeletal element",
- "phenotype",
- "pedal digit phalanx endochondral element",
- "exocrine gland phenotype",
- "pelvic region element phenotype",
- "paired limb/fin phenotype",
- "incomplete closing of the secondary palate",
- "neural crest-derived structure",
- "absent anatomical structure in the multicellular organism",
- "autopod bone",
- "limb long bone",
- "Abnormality of the autonomic nervous system",
- "subdivision of digestive tract phenotype",
- "autopod endochondral element phenotype",
- "valve phenotype",
- "phalanx endochondral element",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "hindlimb stylopod",
- "hindlimb long bone",
- "face",
- "limb",
+ "soft palate morphology phenotype",
+ "anatomical space",
+ "anatomical conduit atresia",
+ "Recurrent infections",
+ "Lower extremity joint dislocation",
+ "Abnormal oral morphology",
+ "craniocervical region morphology phenotype",
+ "prominent forehead",
+ "bone of appendage girdle complex",
+ "Eumetazoa",
+ "absent anatomical structure",
+ "localised testis",
+ "subdivision of oviduct",
+ "roof of mouth morphology phenotype",
"sensory system phenotype",
- "long bone",
- "localised organ",
- "male reproductive organ",
- "anatomical entity morphology in the manus phenotype",
- "bone of jaw",
- "primary circulatory organ",
- "Growth abnormality",
- "Clubbing of toes",
- "incomplete closing of the skeletal element",
- "pes",
+ "ectoderm-derived structure phenotype",
+ "face phenotype",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "leukocyte",
+ "Finger syndactyly",
+ "decreased length of bone of appendage girdle complex",
+ "Abnormal thumb morphology",
+ "compound organ",
+ "Eukaryota",
+ "Aplasia/Hypoplasia affecting the uvea",
+ "closing of the anatomical structure",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
+ "anatomical collection phenotype",
+ "Global developmental delay",
+ "non-connected functional system",
+ "pedal digitopodium region",
+ "aplasia or hypoplasia of anatomical entity",
+ "Abnormal pinna morphology",
"Abnormality of the testis size",
- "intestine phenotype",
- "organ part",
- "external soft tissue zone phenotype",
- "subdivision of head",
- "decreased size of the anatomical conduit",
- "cerebral cortex morphology phenotype",
- "ossification",
- "endochondral element phenotype",
- "skeleton of pes",
- "multicellular anatomical structure atresia",
- "Abnormal internal genitalia",
- "skeleton of digitopodium",
- "anatomical entity atresia",
- "individual digit of digitopodial skeleton",
- "trunk region element physiology phenotype",
- "mouth morphology phenotype",
- "decreased developmental process involved in reproduction",
+ "asymmetry of anatomical entity phenotype",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "organ system subdivision phenotype",
+ "testis",
+ "Abnormal toe morphology",
+ "systemic artery phenotype",
+ "Decreased fertility",
+ "dorsal region element",
+ "pelvic complex",
+ "anatomical entity",
+ "male reproductive organ",
+ "kidney",
+ "Abnormal tracheal morphology",
+ "mandible phenotype",
+ "material anatomical entity physiology phenotype",
+ "umbilicus",
"Abnormality of the skin",
- "midface morphology phenotype",
- "Abnormal form of the vertebral bodies",
- "long bone morphology phenotype",
- "autopodial extension phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Abnormal hip joint morphology",
- "paired limb/fin skeleton",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "anterior chamber of eyeball morphology phenotype",
- "artery morphology phenotype",
- "germ cell",
- "incomplete closing of the arterial blood vessel",
- "anatomical conduit atresia",
- "system",
- "multi-limb segment region phenotype",
- "vestibulo-auditory system phenotype",
- "forelimb zeugopod phenotype",
- "esophagus",
- "shape anatomical entity",
- "fused manual digit and anatomical entity",
- "Decreased bone element mass density",
- "autopod bone phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the skeletal system",
- "digit plus metapodial segment",
- "stylopod",
- "forelimb endochondral element phenotype",
- "Forearm undergrowth",
- "sloped forehead",
- "concave 3-D shape anatomical entity",
- "increased number of organ component layer",
- "intestine morphology phenotype",
- "central nervous system gray matter layer",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "anterior segment of eyeball",
- "pedal digitopodium region",
- "autopodial skeleton",
- "great vessel of heart phenotype",
- "Abnormal bone ossification",
- "bone of appendage girdle complex phenotype",
- "anatomical wall phenotype",
- "Abnormal joint morphology",
- "segment of autopod",
- "Metazoa",
- "vertebral column morphology phenotype",
- "Abnormality of limb bone",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "reproductive system physiology phenotype",
- "epithelial tube morphogenesis",
- "Abnormal renal morphology",
- "Abnormality of the lower limb",
- "appendicular skeleton phenotype",
- "Abnormality of refraction",
- "tracheobronchial tree morphology phenotype",
- "layer of muscle tissue",
- "organ phenotype",
- "bony vertebral centrum morphology phenotype",
- "skeleton",
- "musculature",
- "renal system phenotype",
- "integument phenotype",
- "ganglion phenotype",
- "anatomical structure atresia",
- "aplasia or hypoplasia of uvea",
- "number of leukocyte phenotype",
- "ganglion",
- "Abnormal cerebrospinal fluid morphology",
- "main body axis",
- "Neurodevelopmental abnormality",
- "decreased size of the forelimb bone",
- "anterior region of body",
- "tube closure phenotype",
- "increased height of the multi-tissue structure",
- "internal ear physiology phenotype",
- "incomplete closing of the ductus arteriosus",
- "orifice",
- "mesoderm-derived structure phenotype",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
+ "nervous system",
+ "secretory cell",
+ "eye movement",
+ "phalanx endochondral element phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "Abnormality of the peripheral nervous system",
+ "Leukopenia",
+ "skin of head",
+ "zeugopod",
+ "cornea",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "subdivision of digestive tract phenotype",
+ "phenotype",
+ "regional part of brain",
+ "Abnormal upper limb bone morphology",
+ "visual perception phenotype",
+ "forelimb zeugopod",
+ "Joint dislocation",
+ "skin of body morphology phenotype",
+ "abdomen",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "forelimb bone",
+ "multicellular anatomical structure atresia",
+ "forelimb endochondral element",
+ "eye",
+ "forelimb skeleton phenotype",
+ "Abnormal heart valve morphology",
+ "dermal bone",
+ "Abnormality of the head",
+ "decreased biological_process in multicellular organism",
+ "anatomical entity morphology phenotype",
+ "integument",
+ "localised material anatomical entity",
"decreased length of endochondral bone",
- "skeleton phenotype",
- "vestibulo-auditory system",
- "deviation of anatomical entity",
- "sensory perception of sound",
- "decreased length of limb endochondral element",
+ "sensory perception of mechanical stimulus",
+ "Abnormal lens morphology",
+ "autopodial extension",
+ "tube closure",
+ "Abnormal toe phalanx morphology",
+ "erythrocyte homeostasis",
+ "septum phenotype",
+ "bodily fluid",
+ "Abnormal forearm morphology",
+ "material entity",
+ "jaw region",
+ "epithelial tube morphogenesis",
+ "leg",
+ "forelimb zeugopod morphology phenotype",
+ "pectoral appendage phenotype",
+ "aplasia or hypoplasia of palatine uvula",
+ "hematopoietic system",
+ "lateral structure phenotype",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "appendage girdle region phenotype",
+ "arm bone phenotype",
+ "neurocranium phenotype",
+ "trunk region element phenotype",
+ "increased size of the brain ventricle",
+ "prominent anatomical entity",
+ "forelimb morphology phenotype",
+ "forelimb phenotype",
+ "manual digit 1 digitopodial skeleton",
+ "forelimb zeugopod bone phenotype",
+ "bone of pectoral complex phenotype",
+ "upper limb segment phenotype",
+ "ulna",
+ "head bone",
+ "uterus phenotype",
+ "circulatory system",
+ "Abnormal cardiac atrium morphology",
+ "Aplasia/Hypoplasia of the radius",
+ "vascular system morphology phenotype",
+ "protruding anatomical entity",
+ "incomplete closing of the arterial blood vessel",
+ "hip joint",
+ "Abnormal cardiovascular system morphology",
+ "cerebrospinal fluid morphology phenotype",
+ "vein",
+ "decreased length of anatomical structure",
+ "craniocervical region phenotype",
+ "cardiac valve phenotype",
+ "Aplasia/Hypoplasia of the ulna",
+ "limb bone morphology phenotype",
+ "venous blood vessel",
+ "pigmentation",
+ "Abnormality of movement",
+ "material anatomical entity",
+ "blood vessel",
+ "male reproductive organ morphology phenotype",
+ "male gamete generation",
+ "pelvic girdle skeleton",
+ "blood vasculature",
+ "arterial blood vessel",
+ "secondary palate morphology phenotype",
+ "Abnormality of the vasculature",
+ "epicanthal fold",
+ "Abnormality of prenatal development or birth",
+ "renal system",
+ "Craniofacial cleft",
+ "midface phenotype",
+ "subdivision of skeleton phenotype",
+ "anatomical cluster phenotype",
+ "regional part of nervous system phenotype",
+ "venous system",
+ "bone of free limb or fin",
+ "Pes planus",
+ "increased length of the immaterial anatomical entity",
+ "small intestine",
+ "Abnormal localization of kidney",
+ "shape cornea",
+ "Abnormality of metabolism/homeostasis",
+ "nervous system development",
+ "upper urinary tract",
"kidney phenotype",
- "incomplete closing of the anatomical entity",
- "phalanx",
- "external soft tissue zone",
- "enteric nervous system",
- "increased length of the epicanthal fold",
- "palatine uvula morphology phenotype",
- "Ocular anterior segment dysgenesis",
- "tissue phenotype",
- "penis morphology phenotype",
- "reproductive organ phenotype",
- "regional part of brain phenotype",
- "number of platelet phenotype",
- "Morphological central nervous system abnormality",
- "visual system",
- "uterus morphology phenotype",
- "aplasia or hypoplasia of iris",
+ "face morphology phenotype",
+ "skeletal system morphology phenotype",
+ "anatomical collection",
"deviation of manual digit 5",
- "Abnormal respiratory system morphology",
- "formed chamber of eyeball",
- "decreased number of platelet",
- "Abnormal uvea morphology",
- "formed material anatomical entity",
- "skeletal joint",
- "reflex phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "manual digit 5 plus metapodial segment",
- "Abnormality of skin pigmentation",
- "Abnormal finger phalanx morphology",
+ "male reproductive system phenotype",
+ "incomplete closing of the blood vessel",
+ "subdivision of organism along main body axis phenotype",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "delayed growth",
+ "limb endochondral element",
+ "incomplete closing of the anatomical structure",
+ "musculature phenotype",
+ "forelimb zeugopod bone",
+ "opening of the anatomical entity",
+ "lens of camera-type eye phenotype",
+ "decreased size of the anatomical entity",
+ "hindlimb bone phenotype",
+ "segment of autopod",
+ "lateral structure",
+ "Micrognathia",
+ "renal system phenotype",
+ "multicellular anatomical structure phenotype",
+ "renal system morphology phenotype",
+ "pedal digit phenotype",
+ "limb morphology phenotype",
+ "bone of craniocervical region phenotype",
+ "primary subdivision of cranial skeletal system",
+ "cavitated compound organ",
+ "female reproductive system",
+ "aorta",
+ "skeletal element phenotype",
"intromittent organ phenotype",
- "Abnormal skin morphology",
- "skeleton of pelvic complex",
- "biological_process phenotype",
- "Tracheoesophageal fistula",
- "increased length of the organ part",
- "skin of body",
- "Irregular hyperpigmentation",
- "chordate embryonic development",
- "anucleate cell",
- "increased size of the ectoderm-derived structure",
- "Orofacial cleft",
- "paired limb/fin skeleton phenotype",
- "skin of body morphology phenotype",
- "Hyperpigmentation of the skin",
- "systemic artery morphology phenotype",
- "process",
- "anatomical collection phenotype",
- "occurrent",
- "skin of body phenotype",
- "anatomical projection phenotype",
- "Multiple cafe-au-lait spots",
- "developmental process involved in reproduction",
- "integument",
- "skeleton of manus",
- "mouth phenotype",
- "vertebra morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "increased biological_process",
- "biological_process",
- "Cafe-au-lait spot",
- "decreased system process",
- "eyeball of camera-type eye",
- "developing anatomical structure",
- "Macule",
- "decreased qualitatively sensory perception",
- "male reproductive system morphology phenotype",
- "peripheral nervous system",
- "genitourinary system phenotype",
- "increased biological_process in skin of body",
- "multicellular organismal process",
- "integumental system",
- "neuron projection bundle phenotype",
- "Eumetazoa",
- "cardiovascular system",
- "Abnormal skeletal morphology",
- "Finger clinodactyly",
- "cranial nerve physiology phenotype",
- "male urethra",
- "cranial nerve phenotype",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "Abnormal bone structure",
- "hindlimb skeleton",
- "paralysed anatomical entity",
- "aplasia or hypoplasia of anatomical entity",
- "autonomic nervous system phenotype",
- "Triphalangeal thumb",
- "lateral structure physiology phenotype",
- "cranial nerve",
- "nerve",
- "nervous system physiology phenotype",
- "anatomical entity mass density phenotype",
- "Abnormality of the peripheral nervous system",
- "bone marrow",
- "ventricular system of central nervous system",
- "Cranial nerve paralysis",
- "cranial neuron projection bundle phenotype",
- "flattened anatomical entity",
- "peripheral nervous system phenotype",
- "Abnormal peripheral nerve morphology by anatomical site",
- "manus morphology phenotype",
- "Aplasia/Hypoplasia of fingers",
- "manual digit morphology in the manus phenotype",
- "segment of manus",
- "manus",
- "pelvic girdle bone/zone phenotype",
- "organ component layer phenotype",
+ "limb long bone morphology phenotype",
+ "autopod endochondral element phenotype",
+ "Abnormal eye morphology",
+ "tube formation",
+ "compound organ phenotype",
+ "anatomical structure mass phenotype",
"appendicular skeleton",
- "roof of mouth",
- "skeletal system",
- "appendage girdle region phenotype",
- "Abnormal hand morphology",
- "Abnormal finger morphology",
- "increased length of the ectoderm-derived structure",
- "aplasia or hypoplasia of manual digit",
- "organ subunit",
- "leg bone",
- "subdivision of tube",
- "Aplasia/hypoplasia of the extremities",
- "homeostasis of number of cells",
- "gonad physiology phenotype",
- "decreased size of the anatomical entity",
- "Hypermelanotic macule",
- "skull phenotype",
- "ureter morphology phenotype",
+ "Abnormality of body weight",
+ "abdomen element phenotype",
+ "Astigmatism",
+ "Abnormality of the nervous system",
+ "trunk blood vessel",
+ "peripheral nervous system phenotype",
+ "digestive system morphology phenotype",
+ "Phenotypic abnormality",
+ "intestine",
+ "palatine uvula",
+ "decreased length of orifice",
+ "penis phenotype",
+ "external genitalia",
+ "parasympathetic nervous system",
"Abnormality of the hand",
- "skull",
- "pedal digit plus metapodial segment",
- "aplasia or hypoplasia of skeleton",
- "ventricular system of brain",
- "cerebral cortex phenotype",
- "respiratory tract",
- "fused digit and digit",
- "great vessel of heart morphology phenotype",
- "primary subdivision of skull phenotype",
- "facial skeleton",
- "Finger syndactyly",
- "Syndactyly",
- "manual digit 5",
- "fused anatomical entity and anatomical entity",
- "Spinal dysraphism",
- "arch of centrum of vertebra phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "subdivision of skeletal system phenotype",
- "Abnormal systemic arterial morphology",
- "arterial blood vessel phenotype",
- "Hydrocephalus",
- "subdivision of head phenotype",
- "decreased length of multicellular anatomical structure",
- "systemic artery",
- "pelvic girdle skeleton",
- "common carotid artery plus branches",
- "subdivision of trunk",
- "regional part of nervous system phenotype",
- "artery phenotype",
- "Abnormal cardiac septum morphology",
- "forelimb long bone phenotype",
- "systemic arterial system",
- "blood vessel morphology phenotype",
- "common carotid artery plus branches morphology phenotype",
- "anatomical entity hypoplasia",
- "increased length of the material anatomical entity",
- "decreased size of the limb endochondral element",
- "blood vessel phenotype",
- "Decreased anatomical entity mass density",
- "postcranial axial skeletal system",
- "Abnormality of bone mineral density",
- "cranial skeletal system phenotype",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "size of multicellular organism phenotype",
- "Abnormality of the palpebral fissures",
- "Deviation of finger",
- "deviation of digit towards the middle",
- "respiratory system",
- "Clinodactyly of the 5th finger",
- "deviation of manual digit",
- "Hypertelorism",
- "Abdominal wall defect",
- "Deviation of the 5th finger",
- "decreased length of anatomical conduit",
+ "multi organ part structure",
+ "anatomical cluster",
+ "Abnormal penis morphology",
+ "Absent testis",
"Abnormal shape of the frontal region",
- "Lower extremity joint dislocation",
- "aplasia or hypoplasia of palatine uvula",
- "deviation of manual digit towards the middle",
- "autopod region",
- "bone of craniocervical region phenotype",
- "digit 1 or 5 phenotype",
- "Hearing impairment",
- "dermatocranium phenotype",
- "Deviation of the hand or of fingers of the hand",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "embryonic morphogenesis",
- "Short forearm",
+ "Aplasia/Hypoplasia affecting the anterior segment of the eye",
+ "appendicular skeleton morphology phenotype",
+ "genitourinary system",
+ "tunica fibrosa of eyeball",
+ "Abnormal respiratory system morphology",
+ "anatomical structure morphology in the heart phenotype",
+ "Abnormal cerebral ventricle morphology",
+ "prepuce of penis morphology phenotype",
+ "pedal digit morphology phenotype",
+ "forehead morphology phenotype",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "organ component layer",
+ "ear phenotype",
+ "gamete generation phenotype",
+ "central nervous system gray matter layer phenotype",
+ "intramembranous bone phenotype",
+ "vasculature of trunk",
+ "reproductive system morphology phenotype",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "external ear phenotype",
+ "Frontal bossing",
+ "hematopoietic cell",
+ "gray matter of telencephalon",
+ "male reproductive system",
"Sloping forehead",
- "decreased length of bone of appendage girdle complex",
- "spermatogenesis",
- "Abnormal cornea morphology",
- "Hypoplasia of the ulna",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "palatine uvula",
- "multi-limb segment region",
- "decreased size of the bone element",
- "synovial joint of pelvic girdle morphology phenotype",
- "Abnormality of thumb phalanx",
- "entity",
- "future central nervous system",
+ "Cardiomyopathy",
+ "Abnormal external genitalia",
+ "Abnormal preputium morphology",
+ "multicellular organismal-level homeostasis",
+ "nerve",
+ "delayed biological_process",
+ "Neoplasm",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "pedal digit",
+ "anatomical entity physiology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "bone of pelvic complex phenotype",
+ "cardiovascular system phenotype",
+ "pelvic girdle skeleton phenotype",
+ "bone of appendage girdle complex phenotype",
+ "clavate digit",
+ "Abnormal limb bone morphology",
+ "arm",
+ "pedal digitopodium bone",
+ "glans",
+ "outflow tract of ventricle phenotype",
+ "multi-tissue structure",
+ "anatomical line",
+ "oral cavity",
+ "tube phenotype",
+ "forelimb skeleton",
+ "girdle bone/zone",
+ "Abnormal small intestine morphology",
+ "lower limb segment",
"hemopoiesis",
- "decreased length of forelimb zeugopod bone",
- "decreased length of anatomical entity",
- "embryo",
- "male germ cell",
- "decreased size of the skeletal element",
- "increased number of multicellular anatomical structure in the cerebrospinal fluid",
- "organ system subdivision",
- "decreased size of the bone of pectoral complex",
- "proximo-distal subdivision of respiratory tract",
- "neocortex morphology phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the anatomical entity in the pectoral complex",
- "increased number of brain ventricle in the cerebrospinal fluid",
- "structure with developmental contribution from neural crest physiology phenotype",
- "female reproductive system phenotype",
- "decreased size of the multicellular anatomical structure",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the arm bone",
- "decreased size of the anatomical structure in the pectoral complex",
- "size of anatomical entity phenotype",
- "decreased size of the endochondral bone",
- "bone element mass density phenotype",
- "Abnormality of the respiratory system",
+ "skeleton of pedal digitopodium",
+ "spatial pattern of anatomical entity phenotype",
+ "multi-limb segment region",
+ "digit phenotype",
+ "hip dislocation",
+ "abdominal segment element",
+ "decreased qualitatively developmental process",
+ "increased number of multicellular anatomical structure",
+ "limb",
+ "decreased qualitatively biological_process",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "Abnormal mandible morphology",
+ "cranial nerve",
+ "decreased number of anatomical structure in the multicellular organism",
+ "bone element",
+ "decreased length of mesoderm-derived structure",
+ "digitopodium region",
+ "Abnormality of the gastrointestinal tract",
+ "phalanx of pes",
+ "trunk phenotype",
+ "aorta morphology phenotype",
+ "intramembranous bone",
+ "sperm",
+ "skeleton of digitopodium",
+ "spinal cord phenotype",
+ "Abnormal digit morphology",
+ "increased height of the anatomical structure",
"Decreased fertility in males",
- "presumptive structure",
- "Cataract",
- "decreased size of the mesoderm-derived structure",
- "sensory perception",
- "intestine",
- "decreased size of the limb bone",
+ "subdivision of tube phenotype",
+ "palatine uvula phenotype",
+ "appendage girdle complex",
+ "lower urinary tract phenotype",
+ "anatomical conduit phenotype",
+ "Abnormal foot morphology",
+ "digestive system element",
+ "Abnormal morphology of female internal genitalia",
+ "body proper",
+ "craniocervical region",
+ "Abnormality of the genital system",
+ "bone of pelvic complex morphology phenotype",
+ "trunk",
+ "bone of jaw phenotype",
+ "hindlimb long bone",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "mesoderm-derived structure phenotype",
+ "decreased nervous system process",
+ "primary subdivision of skull",
+ "Arteriovenous malformation",
+ "3-D shape anatomical entity",
+ "developmental process phenotype",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "fused manual digit and anatomical entity",
+ "Abnormal testis morphology",
+ "Abnormal morphology of ulna",
+ "limb long bone phenotype",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "vertebra",
+ "simple eye physiology phenotype",
+ "future central nervous system",
+ "Clubbing of toes",
+ "Abnormal systemic arterial morphology",
+ "dermal skeleton",
+ "voluntary musculoskeletal movement",
+ "abdominal segment of trunk",
+ "organ subunit phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "connective tissue",
+ "posterior region of body",
+ "organ system subdivision",
+ "Bicornuate uterus",
+ "appendicular skeleton phenotype",
+ "ocular surface region",
+ "autopodial skeleton",
+ "growth",
+ "platelet",
+ "reproductive structure phenotype",
+ "hindlimb skeleton phenotype",
+ "ventricle of nervous system phenotype",
+ "formed material anatomical entity",
+ "ureter phenotype",
+ "Abnormal tracheobronchial morphology",
+ "soft palate",
+ "paired limb/fin skeleton",
+ "deviation of manual digit",
+ "cardiac ventricle",
+ "phalanx of pes morphology phenotype",
+ "Abnormality of the integument",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "autopod region phenotype",
+ "individual digit of digitopodial skeleton",
+ "artery",
+ "heart vasculature",
+ "acropodial skeleton",
+ "formed organ part",
+ "neural tube closure phenotype",
+ "segment of pes",
+ "Abnormality of head or neck",
+ "digestive tract",
+ "pes",
+ "skeleton of pes",
+ "reproductive organ",
+ "pedal digit plus metapodial segment",
+ "decreased size of the material anatomical entity",
+ "Abnormality of mental function",
+ "aplasia or hypoplasia of skull",
+ "chamber of eyeball",
+ "decreased qualitatively multicellular organism development",
+ "skeleton of limb",
+ "organ",
+ "pedal digit bone",
+ "autopod endochondral element",
"trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "Abnormal upper limb bone morphology",
- "intramembranous bone phenotype",
+ "anterior uvea",
+ "increased size of the organ part",
+ "paired limb/fin",
"decreased length of skeletal element",
- "spinal cord phenotype",
- "vault of skull phenotype",
- "increased number of brain ventricle/choroid plexus",
- "decreased size of the long bone",
- "pelvic girdle bone/zone morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of arm bone",
- "Limb undergrowth",
- "immune system process",
- "decreased size of the forelimb endochondral element",
- "Abnormal aortic morphology",
- "neurocranium morphology phenotype",
- "decreased length of bone element",
- "decreased length of forelimb endochondral element",
- "localised reproductive structure",
- "decreased length of anatomical structure",
- "Abnormal spermatogenesis",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "head phenotype",
- "decreased length of limb bone",
- "Abnormality of blood and blood-forming tissues",
- "Hematological neoplasm",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "endocrine gland phenotype",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "hematopoietic system phenotype",
- "hemolymphoid system",
- "hematopoietic system",
- "male reproductive organ morphology phenotype",
- "neoplasm phenotype",
- "number of sperm phenotype",
- "Neoplasm by anatomical site",
- "Myelodysplasia",
- "oviduct phenotype",
- "innominate bone morphology phenotype",
- "telencephalon morphology phenotype",
- "trunk bone",
- "heart left ventricle morphology phenotype",
- "zone of bone organ",
- "flat bone",
- "reproductive organ physiology phenotype",
- "pelvic region element",
- "abdominal segment bone",
- "tube closure",
- "synovial joint",
- "Aplasia/Hypoplasia affecting the anterior segment of the eye",
- "girdle bone/zone",
- "head bone",
- "male reproductive system phenotype",
- "hindlimb joint",
- "decreased qualitatively nervous system process",
- "pectoral appendage phenotype",
- "flat bone phenotype",
- "articulation",
- "Abnormal 5th finger morphology",
- "synovial joint morphology phenotype",
- "transparent eye structure",
+ "internal male genitalia",
+ "upper jaw region",
+ "Abnormal ventriculoarterial connection",
+ "decreased male gamete generation",
+ "eyeball of camera-type eye",
+ "neural crest-derived structure",
+ "Abnormality of limb bone",
+ "Clubbing",
+ "mesoderm-derived structure",
+ "shape of forehead phenotype",
+ "internal genitalia phenotype",
+ "aortic valve morphology phenotype",
"skeletal joint dislocation",
- "hip dislocation",
- "tube formation",
- "reproductive process phenotype",
- "Abnormality of movement",
- "Joint dislocation",
- "pelvic girdle skeleton phenotype",
- "hindlimb joint phenotype",
- "pes phenotype",
- "pelvic girdle bone/zone",
- "Abnormal anterior chamber morphology",
- "pelvic region of trunk",
- "increased size of the brain ventricle/choroid plexus",
- "manual digit digitopodial skeleton",
- "size of brain ventricle phenotype",
- "appendage girdle region",
- "Hip dislocation",
- "Leukopenia",
- "arch of centrum of vertebra",
- "dorsal region element",
- "skeletal joint phenotype",
- "prominent forehead",
- "morphogenesis of an epithelium",
- "shape palpebral fissure",
- "location of anatomical entity phenotype",
- "Abnormal pelvic girdle bone morphology",
- "increased length of the anatomical entity",
- "Abnormal myocardium morphology",
- "articular system",
- "anatomical structure phenotype",
- "synovial joint phenotype",
- "uvea morphology phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "innominate bone phenotype",
- "endochondral bone phenotype",
- "trunk bone phenotype",
+ "Toe syndactyly",
+ "phalanx of pes phenotype",
+ "Aplasia/Hypoplasia of the testes",
"nervous system cell part layer",
- "girdle skeleton phenotype",
- "renal system physiology phenotype",
- "external male genitalia phenotype",
- "Abnormality of the gastrointestinal tract",
- "hip joint phenotype",
- "bone of hip region",
- "Abnormality of body height",
- "female organism",
- "forelimb long bone",
- "brain morphology phenotype",
- "Abnormal esophagus morphology",
- "localised multicellular anatomical structure",
- "decreased length of endochondral element",
- "thoracic segment of trunk",
- "myocardium morphology phenotype",
- "neurocranium bone phenotype",
- "respiratory system phenotype",
- "orifice phenotype",
- "anatomical system physiology phenotype",
- "closing of the anatomical entity",
- "viscus",
- "respiratory tube",
- "increased number of brain ventricle",
- "girdle skeleton",
- "lower respiratory tract",
- "viscus phenotype",
- "esophagus morphology phenotype",
- "decreased size of the eyeball of camera-type eye",
- "respiratory system physiology phenotype",
- "skeleton of pectoral complex",
- "Localized skin lesion",
- "respiratory airway",
- "small intestine phenotype",
- "pigmentation",
- "increased size of the anatomical structure",
- "Abnormal respiratory system physiology",
- "Functional abnormality of male internal genitalia",
- "proximo-distal subdivision of respiratory tract phenotype",
- "esophagus phenotype",
- "Abnormality of globe size",
- "closing of the material anatomical entity",
- "manual digit",
- "vertebral element phenotype",
- "hindlimb",
- "kidney",
- "incomplete closing of the anatomical structure",
- "multi cell part structure phenotype",
- "roof of mouth morphology phenotype",
- "incomplete closing of the multicellular anatomical structure",
- "upper eyelid",
- "primary neural tube formation",
- "external genitalia phenotype",
- "deviation of anatomical entity towards the middle",
- "upper digestive tract",
- "Abnormal femur morphology",
- "axial skeleton plus cranial skeleton",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "central nervous system",
- "tissue",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "bony vertebral centrum",
- "multicellular organismal-level homeostasis",
- "craniocervical region phenotype",
- "Neural tube defect",
- "embryo development",
- "neural tube closure",
- "iris phenotype",
- "zone of bone organ phenotype",
- "tissue development",
- "hematopoietic cell",
- "glandular system",
- "system development",
- "pelvic complex",
- "tube morphogenesis",
- "future nervous system",
- "gonad phenotype",
- "Abnormal neural tube morphology",
- "glans penis",
- "embryonic tissue",
- "vertebral element",
- "simple eye phenotype",
- "vault of skull",
- "forelimb endochondral element",
- "vertebral centrum element",
- "Aplasia/hypoplasia involving bones of the upper limbs",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "transudate",
+ "Microphthalmia",
+ "long bone",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "phalanx morphology phenotype",
+ "paired limb/fin skeleton phenotype",
+ "pelvic appendage",
+ "uvea",
+ "manual digit phalanx endochondral element",
+ "skeleton",
+ "central nervous system cell part cluster phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
"Abnormal enteric nervous system morphology",
- "sensory perception of light stimulus phenotype",
- "tube formation phenotype",
- "Meckel diverticulum",
- "irregular bone phenotype",
- "neural crest-derived structure, curved phenotype",
- "developmental process",
- "coronary vessel morphology phenotype",
- "neural tube closure phenotype",
- "incomplete closing of the organ",
- "dorsal region element phenotype",
- "dorsum",
- "neural tube development",
- "epithelial tube formation",
- "Hypopigmentation of the skin",
- "morphogenesis of embryonic epithelium",
- "sensory perception phenotype",
- "endocrine gland",
- "spinal cord",
- "multicellular organism development",
- "embryonic structure",
- "internal genitalia phenotype",
- "pedal digit digitopodial skeleton",
+ "skeleton of pelvic complex",
+ "skeleton phenotype",
+ "phalanx endochondral element",
+ "formed chamber of eyeball",
+ "abdominal viscera",
+ "duodenum morphology phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "internal naris phenotype",
+ "Intrauterine growth retardation",
+ "hip joint phenotype",
+ "Abnormal enteric ganglion morphology",
+ "Abnormality of the forehead",
+ "Spinal dysraphism",
+ "Abnormal uvea morphology",
+ "digitopodium bone phenotype",
+ "Abnormal skin morphology",
+ "Abnormality of the male genitalia",
+ "olfactory organ",
+ "homeostatic process phenotype",
+ "decreased size of the limb bone",
+ "bone element phenotype",
"neural tube",
- "zeugopod",
- "Abnormal calvaria morphology",
+ "anatomical structure morphogenesis",
+ "Abnormal blood vessel morphology",
+ "Abnormality of the hypothalamus-pituitary axis",
+ "incomplete closing of the skeletal element",
+ "increased length of the ectoderm-derived structure",
+ "hindlimb phenotype",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "exocrine gland phenotype",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
+ "digit plus metapodial segment",
+ "brain gray matter phenotype",
+ "prepuce of penis phenotype",
"embryo phenotype",
- "external genitalia",
- "incomplete closing of the arch of centrum of vertebra",
- "large intestine",
- "Abnormal axial skeleton morphology",
- "decreased multicellular organismal reproductive process",
- "nervous system process phenotype",
+ "limb segment",
+ "aplasia or hypoplasia of iris",
+ "decreased size of the anatomical structure",
+ "Abnormal nasal morphology",
"Abnormality of the cardiovascular system",
- "nerve of head region",
- "opening of the anatomical entity",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "anatomical structure formation involved in morphogenesis phenotype",
- "gray matter of forebrain phenotype",
- "phalanx of pes morphology phenotype",
- "Abnormality of the vertebral column",
- "Aganglionic megacolon",
- "vascular system",
- "enteric ganglion",
- "Abnormal bone marrow cell morphology",
- "Abnormal ganglion morphology",
- "ganglion of peripheral nervous system morphology phenotype",
- "Decreased head circumference",
- "oral cavity morphology phenotype",
- "pectoral appendage skeleton",
- "pelvic girdle region",
- "ganglion of peripheral nervous system phenotype",
- "Abnormal enteric ganglion morphology",
- "autonomic nervous system",
- "Abnormal autonomic nervous system morphology",
- "parasympathetic ganglion",
- "gray matter of telencephalon",
- "Frontal bossing",
- "ulna phenotype",
- "Abnormal large intestine morphology",
- "autonomic ganglion",
- "incomplete closing of the septum",
- "parasympathetic nervous system",
- "male organism phenotype",
- "Abnormal peripheral nervous system ganglion morphology",
- "endocrine system",
- "ganglion morphology phenotype",
- "brain ventricle/choroid plexus",
- "Abnormal ileum morphology",
- "tunica fibrosa of eyeball",
- "increased size of the brain ventricle",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "pigmentation phenotype",
+ "Abnormality of thumb phalanx",
+ "Abnormality of the digestive system",
+ "system process phenotype",
+ "incomplete closing of the ductus arteriosus",
+ "aplasia or hypoplasia of manual digit",
+ "external soft tissue zone phenotype",
+ "abdominal segment bone phenotype",
+ "organism subdivision phenotype",
+ "subdivision of skeletal system phenotype",
+ "head morphology phenotype",
+ "Abnormal male external genitalia morphology",
+ "entire sense organ system",
+ "phenotypic effect",
"alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "cranial bone",
- "increased size of the anatomical entity",
- "increased length of the anatomical line between pupils",
- "increased size of the material anatomical entity",
- "neural crest-derived structure phenotype",
- "material anatomical entity",
- "brain phenotype",
- "pelvic appendage skeleton",
- "Aplasia/hypoplasia involving forearm bones",
- "increased size of the multicellular anatomical structure",
- "eye",
- "Abnormal brain morphology",
- "Craniofacial cleft",
- "orifice atresia",
- "immune system",
- "closing of the anatomical conduit",
- "decreased size of the sense organ",
- "ectoderm-derived structure atresia",
- "Abnormality of the anus",
- "bone of craniocervical region",
- "anus morphology phenotype",
- "anus atresia",
- "increased qualitatively biological_process",
- "Anal atresia",
- "closing of the multicellular anatomical structure",
- "Abnormal cerebral morphology",
- "forebrain morphology phenotype",
- "tetrapod frontal bone",
- "brain gray matter",
- "paired limb/fin segment phenotype",
- "dermal skeleton phenotype",
- "facial skeleton phenotype",
- "Abnormal midface morphology",
- "central nervous system gray matter layer phenotype",
- "heart phenotype",
- "cranial skeletal system",
- "structure with developmental contribution from neural crest",
- "regional part of nervous system",
- "incomplete closing of the material anatomical entity",
- "primary subdivision of cranial skeletal system",
- "organ part phenotype",
- "dermal skeleton",
- "gland",
- "neurocranium phenotype",
- "prominent anatomical entity",
- "increased size of the zone of skin",
- "lobe of cerebral hemisphere",
- "intramembranous bone",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "neurocranium",
- "Abnormality of globe location",
- "Spina bifida",
- "gray matter phenotype",
- "olfactory system morphology phenotype",
- "incomplete closing of the coronary vessel",
- "frontal cortex morphology phenotype",
- "Abnormality of the ocular adnexa",
- "forebrain phenotype",
- "cerebral hemisphere gray matter",
- "forehead phenotype",
- "head bone phenotype",
- "Abnormality of the nervous system",
- "girdle bone/zone phenotype",
- "tetrapod frontal bone morphology phenotype",
- "facial skeleton morphology phenotype",
- "pallium",
- "telencephalon",
+ "response to external stimulus phenotype",
+ "digitopodium bone",
+ "sloped forehead",
+ "Abnormal pelvic girdle bone morphology",
+ "concave 3-D shape anatomical entity",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "penis",
+ "coronary vessel",
+ "increased size of the ventricle of nervous system",
+ "epithelial tube formation",
+ "acropodium region",
"pes bone",
- "neocortex",
- "frontal lobe",
+ "autopod region",
+ "increased length of the anatomical line",
+ "epithelium",
+ "Abnormality of the autonomic nervous system",
+ "occurrent",
+ "Abnormal digestive system morphology",
+ "long bone morphology phenotype",
+ "decreased functionality of the mesoderm-derived structure",
+ "telencephalon morphology phenotype",
+ "anatomical cavity phenotype",
+ "decreased qualitatively sensory perception",
+ "duodenum",
+ "trunk bone phenotype",
+ "synovial joint of pelvic girdle",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "organ phenotype",
+ "manual digitopodium bone",
+ "Abnormal cellular immune system morphology",
+ "female reproductive system phenotype",
+ "incomplete closing of the abdominal wall",
+ "Abnormal morphology of the great vessels",
+ "skeletal joint morphology phenotype",
+ "multi cell part structure",
+ "sensory perception of sound",
+ "respiratory airway",
+ "incomplete closing of the systemic artery",
+ "Abnormal joint morphology",
"Abnormality of the upper urinary tract",
- "dermal bone",
- "drooping eyelid",
- "pigmentation phenotype",
- "cerebral cortex",
- "gray matter",
- "testis phenotype",
- "manual digit 1 digitopodial skeleton",
- "forehead",
- "material anatomical entity physiology phenotype",
- "cerebral hemisphere morphology phenotype",
- "Abnormality of the forehead",
- "gamete",
- "gray matter of forebrain",
- "head bone morphology phenotype",
- "shape of frontal cortex phenotype",
- "increased length of the skin of eyelid",
- "upper limb segment phenotype",
+ "pelvic appendage skeleton phenotype",
+ "Abnormal ocular adnexa morphology",
+ "Congenital malformation of the great arteries",
+ "arm bone",
+ "anatomical entity phenotype",
+ "lower limb segment phenotype",
+ "digestive system element phenotype",
+ "synovial joint morphology phenotype",
+ "facial bone phenotype",
+ "endoderm-derived structure",
+ "small intestine phenotype",
+ "continuant",
+ "anatomical system phenotype",
+ "cerebral cortex phenotype",
+ "integumental system phenotype",
+ "decreased size of the limb endochondral element",
+ "limb skeleton subdivision",
+ "Short long bone",
+ "subdivision of digestive tract",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "frontal cortex morphology phenotype",
+ "zone of bone organ",
+ "hindlimb",
+ "digestive system",
+ "liver",
+ "multi-tissue structure phenotype",
+ "leg phenotype",
+ "tube development",
+ "central nervous system phenotype",
+ "organ part phenotype",
"Abnormal skull morphology",
- "cranium morphology phenotype",
- "Neoplasm",
- "cerebral hemisphere"
+ "parasympathetic ganglion",
+ "Abnormality of the urinary system",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "eye phenotype",
+ "Abnormal platelet count",
+ "vertebral column phenotype",
+ "female organism",
+ "disconnected anatomical group",
+ "Small intestinal stenosis",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "physiologic nystagmus phenotype",
+ "decreased number of anatomical entity in the multicellular organism",
+ "orifice",
+ "artery morphology phenotype"
],
"has_phenotype_count": 106,
"highlight": null,
"score": null
},
- {
- "id": "MONDO:1011503",
- "category": "biolink:Disease",
- "name": "Fanconi syndrome, dog",
- "full_name": null,
- "deprecated": null,
- "description": "Fanconi syndrome that occurs in dog.",
- "xref": ["OMIA:000366-9615"],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": null,
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
{
"id": "MONDO:0007600",
"category": "biolink:Disease",
@@ -4363,1185 +4203,1094 @@
"Renal phosphate wasting"
],
"has_phenotype_closure": [
+ "UPHENO:0051900",
"HP:0000117",
- "UPHENO:0000541",
+ "HP:0001510",
+ "HP:0025745",
+ "CHEBI:33709",
"UPHENO:0051739",
- "HP:0040156",
+ "HP:0002909",
"UPHENO:0068144",
- "UPHENO:0068491",
- "HP:0012072",
"UPHENO:0046286",
- "CHEBI:33839",
- "HP:0020129",
+ "HP:0003076",
+ "UPHENO:0080658",
+ "UPHENO:0068054",
"CHEBI:15841",
- "HP:0000093",
- "HP:0003126",
- "HP:0001992",
"CHEBI:33256",
- "CHEBI:37622",
+ "HP:0020129",
"UPHENO:0051608",
"UPHENO:0068024",
- "UPHENO:0051714",
- "CHEBI:17544",
+ "HP:0003149",
+ "HP:0011279",
"UPHENO:0051619",
+ "HP:6000531",
+ "HP:0003646",
+ "UPHENO:0051714",
+ "HP:0033354",
+ "UPHENO:0066964",
+ "UPHENO:0003941",
+ "UPHENO:0066925",
"CHEBI:35604",
- "UPHENO:0024906",
- "CHEBI:16541",
+ "HP:0001947",
+ "UPHENO:0002248",
+ "UBERON:0006555",
"UPHENO:0004791",
+ "UPHENO:0002210",
+ "UPHENO:0005141",
"UPHENO:0003430",
- "UBERON:0000479",
- "CHEBI:33709",
+ "UPHENO:0051635",
+ "UPHENO:0066943",
"UPHENO:0066960",
- "UPHENO:0066964",
+ "UPHENO:0066950",
+ "UPHENO:0066954",
"UBERON:0009773",
"UBERON:0007684",
- "UPHENO:0066927",
+ "UBERON:0004211",
+ "UBERON:0000483",
"UPHENO:0066913",
"UPHENO:0002564",
- "UPHENO:0066951",
- "UBERON:0006555",
- "UPHENO:0003381",
- "UPHENO:0005201",
+ "UBERON:0001285",
+ "UPHENO:0002311",
+ "UPHENO:0002287",
+ "UBERON:0003914",
"UBERON:0004819",
- "UPHENO:0066946",
"HP:0004910",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0000483",
- "UPHENO:0003941",
+ "UPHENO:0005285",
+ "HP:0000124",
"HP:0004360",
- "HP:0001942",
- "HP:0001941",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0003011",
+ "UPHENO:0002252",
+ "UBERON:0001630",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
"UPHENO:0003047",
+ "UPHENO:0024906",
"HP:0011804",
- "UBERON:0005090",
- "HP:0001824",
- "UPHENO:0010799",
- "HP:0001995",
- "UPHENO:0010795",
- "GO:0040007",
+ "HP:0001324",
+ "UPHENO:0054374",
+ "UPHENO:0054304",
"UPHENO:0054315",
+ "UPHENO:0010850",
+ "HP:0004323",
+ "UPHENO:0010795",
+ "UPHENO:0049874",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "HP:0001507",
+ "HP:0012531",
"HP:0002653",
- "CHEBI:36914",
+ "UPHENO:0081440",
+ "HP:0002659",
+ "HP:0002749",
+ "UPHENO:0068491",
+ "CHEBI:24835",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
+ "UPHENO:0034199",
+ "UPHENO:0002246",
+ "HP:0003111",
"CHEBI:36915",
- "HP:0010930",
- "HP:0002900",
- "UPHENO:0089756",
- "UPHENO:0068296",
- "HP:0033354",
+ "CHEBI:22860",
+ "CHEBI:36916",
+ "BFO:0000002",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
"CHEBI:26216",
- "HP:0003081",
- "CHEBI:33674",
- "CHEBI:22563",
- "UPHENO:0005285",
- "GO:0043227",
- "UPHENO:0089739",
- "UPHENO:0084541",
- "HP:0010966",
- "HP:0002909",
- "CHEBI:36586",
- "CHEBI:18059",
- "UPHENO:0082794",
- "CHEBI:64709",
+ "UPHENO:0051849",
"HP:0003287",
- "CHEBI:17126",
+ "HP:0010935",
+ "CHEBI:35605",
+ "CHEBI:16541",
+ "GO:0005622",
+ "UBERON:0000489",
+ "CHEBI:26020",
"GO:0005737",
+ "GO:0043231",
"GO:0043226",
- "HP:0003234",
+ "UPHENO:0077817",
"UPHENO:0034319",
- "UPHENO:0084537",
+ "HP:0012103",
+ "UPHENO:0086172",
+ "HP:0032180",
+ "HP:0012598",
+ "CHEBI:25741",
+ "CHEBI:33521",
+ "CHEBI:27369",
+ "UPHENO:0051628",
+ "UPHENO:0089735",
+ "UPHENO:0051881",
"CHEBI:33608",
- "CHEBI:25696",
- "CHEBI:24651",
+ "HP:0011015",
"CHEBI:33273",
- "CHEBI:25741",
- "HP:0011279",
- "GO:0043231",
- "UPHENO:0051979",
- "CHEBI:24835",
- "GO:0110165",
- "CHEBI:35284",
+ "GO:0005575",
"UPHENO:0046337",
- "UPHENO:0082761",
- "HP:0012531",
- "CHEBI:36587",
- "HP:0012610",
- "CHEBI:51151",
+ "UBERON:0000174",
"CHEBI:35406",
- "GO:0005575",
- "HP:0004359",
- "CHEBI:24833",
- "UPHENO:0051881",
- "CHEBI:26469",
- "HP:0002749",
+ "GO:0005623",
+ "UPHENO:0051777",
+ "CHEBI:17126",
+ "CHEBI:51143",
+ "CHEBI:25384",
+ "CHEBI:83821",
+ "HP:0012599",
+ "CHEBI:28868",
"CHEBI:35281",
- "CHEBI:35366",
"CHEBI:33575",
- "UPHENO:0089745",
- "HP:0002157",
- "UPHENO:0010850",
- "HP:0011843",
- "CHEBI:35605",
- "HP:0004364",
- "UBERON:0001630",
- "HP:0025142",
- "CHEBI:33672",
- "CHEBI:24532",
- "CHEBI:33659",
- "HP:0010932",
- "CHEBI:25810",
+ "GO:0043227",
+ "CHEBI:35757",
+ "UPHENO:0051979",
+ "HP:0003234",
+ "HP:0003119",
+ "CHEBI:33674",
+ "CHEBI:25699",
+ "UPHENO:0068296",
+ "CHEBI:22563",
+ "CHEBI:36358",
+ "HP:0010966",
+ "UPHENO:0081550",
+ "HP:0004359",
+ "HP:0004354",
+ "UPHENO:0077826",
"UPHENO:0068251",
- "UPHENO:0046383",
- "HP:6000531",
- "UPHENO:0051736",
- "CHEBI:72695",
- "CHEBI:35875",
+ "CHEBI:35352",
+ "CHEBI:33671",
+ "HP:0032943",
+ "CHEBI:24532",
+ "HP:0004364",
+ "UPHENO:0000541",
+ "HP:0003081",
"UPHENO:0068442",
- "CHEBI:33655",
+ "UPHENO:0066939",
+ "UPHENO:0089745",
+ "HP:0002157",
"CHEBI:33636",
- "UPHENO:0068064",
+ "CHEBI:33635",
+ "UPHENO:0002636",
"CHEBI:33832",
+ "CHEBI:27226",
+ "HP:0003110",
+ "CHEBI:25810",
+ "CHEBI:35366",
+ "UPHENO:0087433",
+ "CHEBI:35875",
+ "UPHENO:0046283",
"CHEBI:27171",
- "CHEBI:33833",
"CHEBI:38101",
- "UPHENO:0010808",
- "UPHENO:0066781",
- "HP:0002049",
- "CHEBI:24867",
- "CHEBI:37577",
- "UPHENO:0002964",
- "CHEBI:33635",
- "HP:0033127",
- "HP:0025354",
+ "UPHENO:0068134",
+ "CHEBI:33833",
+ "UBERON:0004765",
+ "CHEBI:24870",
+ "UPHENO:0002642",
+ "UPHENO:0034276",
+ "CHEBI:33259",
+ "CHEBI:36357",
"HP:0003330",
- "UBERON:0001434",
+ "HP:0004349",
+ "CHEBI:36587",
+ "CHEBI:33655",
+ "CHEBI:50047",
+ "HP:0000924",
+ "UBERON:0013701",
+ "CHEBI:33302",
+ "HP:0001942",
+ "GO:0032501",
+ "UPHENO:0002949",
+ "UPHENO:0082544",
+ "UPHENO:0082835",
+ "CHEBI:25696",
+ "UPHENO:0002346",
"HP:0011849",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "CHEBI:32988",
+ "HP:0010930",
"HP:0004912",
- "UPHENO:0004459",
- "UPHENO:0050433",
- "UPHENO:0002554",
- "UPHENO:0066921",
- "CHEBI:33304",
- "UPHENO:0066739",
- "CHEBI:33582",
- "HP:0001510",
- "UBERON:0002390",
- "UPHENO:0081440",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "BFO:0000040",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002210",
- "UPHENO:0002783",
- "UPHENO:0002530",
- "CHEBI:27226",
- "HP:0000118",
- "CHEBI:18282",
- "UBERON:0000061",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0005177",
"CHEBI:26082",
- "UBERON:0000062",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "CHEBI:36358",
- "HP:0011280",
- "UPHENO:0002269",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0089764",
- "UBERON:0004122",
- "GO:0042592",
- "CHEBI:27369",
- "UPHENO:0002679",
- "HP:0004918",
- "UPHENO:0049874",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "GO:0043229",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0089770",
+ "GO:0008150",
+ "UPHENO:0068064",
+ "UPHENO:0002559",
+ "CHEBI:36360",
+ "HP:0004348",
+ "CHEBI:24867",
+ "CHEBI:33238",
+ "UPHENO:0066739",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "CHEBI:26708",
+ "HP:0012606",
+ "CHEBI:22314",
+ "HP:0012603",
+ "UPHENO:0002909",
+ "UPHENO:0050619",
+ "HP:0011842",
+ "GO:0065008",
+ "UPHENO:0050064",
+ "GO:0001503",
+ "UPHENO:0051712",
+ "UPHENO:0050065",
+ "HP:0011032",
+ "UPHENO:0003432",
+ "HP:0002049",
+ "UPHENO:0081544",
+ "HP:0010932",
+ "UPHENO:0004503",
+ "CHEBI:33559",
+ "UBERON:0015212",
+ "CHEBI:33318",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "UPHENO:0051686",
+ "UPHENO:0089294",
+ "HP:0002206",
+ "UBERON:0002204",
+ "HP:0002150",
+ "UPHENO:0051766",
+ "HP:0001944",
"UPHENO:0002734",
- "UBERON:0000468",
+ "CHEBI:22984",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "HP:0010967",
+ "UPHENO:0084537",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "HP:0000093",
+ "UPHENO:0046344",
+ "UPHENO:0002530",
+ "UBERON:0001088",
"UPHENO:0002816",
- "UPHENO:0068565",
- "CHEBI:25699",
- "CHEBI:33241",
- "UPHENO:0002385",
- "GO:0008152",
- "UPHENO:0082544",
- "CHEBI:22860",
- "UPHENO:0002427",
- "GO:0050878",
- "UPHENO:0084542",
- "CL:0000000",
- "HP:0002748",
- "UPHENO:0076294",
- "CHEBI:24870",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "UPHENO:0068169",
- "BFO:0000002",
- "HP:0004325",
- "HP:0012103",
- "BFO:0000001",
- "UPHENO:0051645",
- "UPHENO:0002949",
- "CHEBI:78616",
- "UPHENO:0054374",
- "GO:0005623",
- "UPHENO:0003025",
- "UPHENO:0066943",
+ "CHEBI:51151",
+ "UPHENO:0051709",
+ "UPHENO:0051887",
+ "UPHENO:0068110",
+ "HP:0002795",
+ "HP:0000077",
+ "HP:0011014",
+ "UPHENO:0002386",
+ "CHEBI:26469",
+ "UPHENO:0002360",
+ "HP:0003355",
+ "UPHENO:0049587",
+ "UBERON:0000916",
+ "UBERON:0004122",
"HP:0100529",
- "UPHENO:0003088",
- "UPHENO:0048750",
- "HP:0002659",
- "UPHENO:0001002",
- "HP:0003076",
- "HP:0003011",
- "HP:0001324",
- "HP:0001939",
- "UPHENO:0050619",
- "UBERON:0001558",
- "HP:0010996",
- "UPHENO:0089735",
- "CHEBI:33675",
- "HP:0000124",
- "CHEBI:35757",
- "CHEBI:26079",
- "CHEBI:22984",
- "HP:0011032",
- "CHEBI:33595",
- "UPHENO:0087433",
- "CHEBI:33302",
- "CHEBI:29067",
- "UPHENO:0046284",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0051849",
- "UBERON:0002100",
"HP:0000119",
- "UPHENO:0068054",
- "HP:0010929",
- "HP:0006530",
- "UPHENO:0066954",
+ "CHEBI:33595",
+ "UPHENO:0002422",
+ "UBERON:0005173",
+ "UBERON:0000179",
"HP:0012211",
- "HP:0004348",
- "UPHENO:0002448",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:35352",
+ "UPHENO:0034351",
+ "HP:0012622",
+ "HP:0012610",
+ "UPHENO:0003093",
+ "UPHENO:0005092",
+ "HP:0000118",
"UPHENO:0076286",
- "UBERON:0005181",
+ "UPHENO:0002832",
+ "UPHENO:0046281",
+ "UPHENO:0046284",
"UPHENO:0002803",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "HP:0003149",
- "UPHENO:0054304",
- "CHEBI:60242",
- "GO:0001503",
- "HP:0011013",
- "CHEBI:16646",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051628",
- "UBERON:0011676",
- "CHEBI:26708",
- "GO:0008150",
- "UPHENO:0004503",
- "UBERON:0000383",
- "UBERON:8450002",
- "UPHENO:0051804",
- "UPHENO:0002574",
- "GO:0005622",
- "UPHENO:0006889",
- "HP:0430071",
- "UBERON:0000475",
- "UPHENO:0082835",
- "UPHENO:0003084",
- "UBERON:0002075",
- "UPHENO:0076692",
- "HP:0000001",
- "UPHENO:0068036",
- "UPHENO:0084654",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0050433",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
"UPHENO:0079822",
- "UBERON:0000467",
- "BFO:0000003",
- "UPHENO:0051887",
- "HP:0012598",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0003086",
- "UPHENO:0002536",
- "UBERON:0004119",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0003094",
- "UPHENO:0034276",
- "UPHENO:0002526",
- "CHEBI:36916",
- "UBERON:0005173",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0049628",
- "CHEBI:26401",
- "UBERON:0000178",
- "CHEBI:51143",
- "UPHENO:0046356",
- "HP:0010967",
- "UBERON:0013702",
- "HP:0004323",
+ "CHEBI:36963",
+ "CHEBI:33285",
+ "CHEBI:64709",
"UPHENO:0089737",
- "UPHENO:0084472",
- "HP:0002086",
- "HP:0002206",
- "UPHENO:0076299",
- "UBERON:0005178",
- "CHEBI:18133",
- "CHEBI:36962",
- "GO:0005739",
- "UBERON:0001088",
- "UPHENO:0046281",
- "UBERON:0001062",
- "UPHENO:0002248",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0050064",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UBERON:0001285",
- "UPHENO:0002320",
- "PATO:0000001",
- "HP:0011842",
- "HP:0003646",
- "HP:0032943",
- "UBERON:0001015",
- "UPHENO:0002859",
- "UBERON:0000065",
- "UPHENO:0034199",
- "CHEBI:25806",
- "UBERON:0004111",
- "UPHENO:0077817",
- "UPHENO:0002648",
- "UPHENO:0002422",
- "CHEBI:50860",
- "UPHENO:0051712",
- "HP:0012622",
- "UBERON:0000064",
- "CHEBI:16670",
"UBERON:0000170",
- "HP:0011042",
- "HP:0003537",
- "HP:0011014",
+ "HP:0012591",
"UPHENO:0002525",
- "HP:0032180",
- "BFO:0000004",
- "HP:0011015",
- "UPHENO:0081550",
- "HP:0003110",
- "UBERON:0000072",
- "UPHENO:0002287",
- "BFO:0000020",
- "UBERON:0013701",
- "UPHENO:0002377",
- "UPHENO:0002360",
- "HP:0011017",
- "HP:0002150",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002988",
- "UPHENO:0002634",
- "HP:0031980",
- "UBERON:0000025",
- "HP:0002795",
- "UBERON:0005172",
- "HP:0002088",
- "UPHENO:0051900",
- "HP:0000077",
- "GO:0043229",
- "GO:0032501",
- "CHEBI:24431",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0002252",
- "UPHENO:0086908",
- "GO:0048878",
"CHEBI:33579",
- "UPHENO:0002926",
- "HP:0003774",
- "HP:0001947",
- "HP:0004354",
- "GO:0042593",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:35381",
- "UPHENO:0084653",
- "CHEBI:15693",
- "HP:0001944",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "UPHENO:0002386",
- "HP:0012606",
- "CHEBI:36963",
- "HP:0001871",
- "CHEBI:38166",
- "HP:0001943",
- "UPHENO:0051763",
- "UPHENO:0050791",
- "UPHENO:0080556",
- "GO:0033500",
- "UPHENO:0002442",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "UPHENO:0002909",
- "UPHENO:0002246",
- "HP:0010935",
- "UBERON:0004211",
- "CHEBI:33238",
- "UBERON:0002417",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0086908",
+ "BFO:0000040",
"UBERON:0002113",
- "UPHENO:0081544",
- "CHEBI:23367",
- "UPHENO:0075902",
- "UBERON:0003914",
+ "UPHENO:0002532",
+ "UPHENO:0046348",
+ "UPHENO:0048707",
+ "HP:0001939",
+ "HP:0001941",
+ "HP:0002088",
+ "GO:0008152",
+ "UPHENO:0048750",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0089764",
"UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
- "CHEBI:33671",
- "UPHENO:0003093",
+ "UPHENO:0003084",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "GO:0042592",
+ "CHEBI:33839",
+ "CHEBI:38166",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0006314",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UPHENO:0068565",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0066951",
+ "CHEBI:17234",
+ "CHEBI:35381",
+ "UPHENO:0002426",
+ "CHEBI:16646",
+ "UPHENO:0066781",
+ "UPHENO:0002870",
+ "BFO:0000003",
"HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0076299",
+ "HP:0003126",
+ "UPHENO:0051763",
+ "GO:0110165",
+ "UPHENO:0001002",
+ "UPHENO:0076294",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UPHENO:0068169",
+ "GO:0050878",
+ "UBERON:0013522",
+ "UBERON:0005181",
"UPHENO:0002308",
- "HP:0011277",
- "CHEBI:33318",
+ "UPHENO:0002783",
+ "CHEBI:17544",
+ "CHEBI:33659",
+ "BFO:0000015",
+ "HP:0006530",
+ "HP:0001824",
+ "UPHENO:0002731",
+ "CHEBI:24431",
+ "UBERON:0000065",
+ "HP:0033127",
+ "UBERON:0000072",
"UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "UPHENO:0002377",
+ "UPHENO:0084542",
+ "CHEBI:26079",
+ "CHEBI:33917",
+ "HP:0011017",
+ "GO:0040007",
+ "HP:0011280",
+ "UBERON:0000475",
+ "UPHENO:0002448",
+ "UPHENO:0010808",
+ "GO:0005739",
+ "UBERON:0000178",
+ "UBERON:0002417",
+ "GO:0065007",
+ "UBERON:0005090",
+ "HP:0012337",
+ "UBERON:0003103",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UPHENO:0002267",
+ "UBERON:0001558",
+ "UPHENO:0002442",
+ "UPHENO:0004418",
+ "CHEBI:33675",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "CHEBI:78616",
+ "UPHENO:0003413",
+ "UPHENO:0002574",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "HP:0011042",
+ "UBERON:0000062",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0049628",
+ "UPHENO:0006889",
+ "UPHENO:0051960",
+ "HP:0001943",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:16670",
+ "CHEBI:35284",
"UPHENO:0002976",
- "UPHENO:0066903",
+ "CHEBI:24651",
+ "UPHENO:0003086",
+ "UBERON:0001005",
+ "UBERON:0000025",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0046383",
+ "UPHENO:0051645",
+ "UPHENO:0076703",
+ "UBERON:0005177",
+ "CHEBI:36586",
+ "UPHENO:0034253",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "CHEBI:18133",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0084472",
+ "UPHENO:0051736",
+ "UPHENO:0001003",
+ "UBERON:0000465",
+ "UPHENO:0002859",
+ "UBERON:0002075",
+ "HP:0025354",
+ "GO:0048878",
+ "CHEBI:23367",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "CHEBI:33672",
+ "CHEBI:37622",
"UPHENO:0002359",
- "HP:0001507",
- "CHEBI:83821",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UBERON:0002048",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0000383",
"HP:0000079",
- "CHEBI:28868",
- "UBERON:0013522",
- "UPHENO:0002426",
- "UPHENO:0004418",
- "UBERON:0006314",
+ "UPHENO:0050791",
+ "UPHENO:0003025",
+ "UBERON:0013702",
+ "UPHENO:0089739",
+ "CHEBI:25806",
+ "UPHENO:0046356",
+ "UPHENO:0000543",
+ "UBERON:0000463",
+ "CL:0000000",
+ "GO:0042593",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "HP:0430071",
+ "UBERON:0000467",
+ "CHEBI:33582",
+ "UPHENO:0068036",
+ "UPHENO:0003094",
+ "UBERON:0004119",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "CHEBI:29067",
+ "CHEBI:72695",
+ "UPHENO:0004536",
+ "UBERON:0002100",
+ "CHEBI:25367",
+ "UPHENO:0080555",
+ "UPHENO:0082761",
+ "UBERON:0000915",
+ "UBERON:0034925",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0066927",
+ "CHEBI:26401",
"UBERON:0011143",
- "UPHENO:0066925",
- "HP:0012591",
+ "UPHENO:0084541",
+ "CHEBI:60242",
"CHEBI:5686",
- "UPHENO:0004505",
- "UBERON:0002048",
- "UPHENO:0046344",
- "UBERON:0001005",
- "UPHENO:0048707",
- "UPHENO:0002346",
+ "UBERON:0002390",
+ "CHEBI:18282",
+ "UPHENO:0010763",
+ "HP:0000001",
+ "UPHENO:0089756",
+ "UBERON:0010000",
+ "HP:0011843",
"UPHENO:0002531",
- "CHEBI:33521",
- "UPHENO:0051777",
- "UBERON:0000489",
- "UPHENO:0068110",
- "UPHENO:0002754",
- "UPHENO:0068134",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0051766",
- "CHEBI:33917",
- "CHEBI:22313",
- "UPHENO:0086172",
- "GO:0065007",
- "GO:0065008",
- "HP:0012599",
- "UPHENO:0050065",
- "HP:0012603",
- "UPHENO:0034351",
- "UPHENO:0051709",
- "CHEBI:25384",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0004765",
- "HP:0000924",
- "UBERON:0000465",
- "UBERON:0001008",
- "UBERON:0002204",
- "HP:0003355",
- "CHEBI:36359",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UPHENO:0002731",
- "HP:0004349",
- "HP:0003119",
- "CHEBI:36360",
- "UBERON:0010000",
- "UBERON:0000174",
"UBERON:0001474",
- "UPHENO:0066950",
- "UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0066939",
- "UPHENO:0010763",
- "CHEBI:33259"
+ "UPHENO:0004459",
+ "HP:0010996",
+ "CHEBI:24833",
+ "UPHENO:0066903",
+ "UPHENO:0002963",
+ "CHEBI:15693",
+ "HP:0003537",
+ "UPHENO:0002679",
+ "HP:0011277",
+ "GO:0033500",
+ "UPHENO:0002668",
+ "CHEBI:18059",
+ "BFO:0000004"
],
"has_phenotype_closure_label": [
"Abnormal urine phosphate concentration",
- "Renal phosphate wasting",
- "delayed biological_process",
"Growth delay",
- "Aminoaciduria",
- "urine amino acid level phenotype",
+ "Proximal renal tubular acidosis",
"increased level of amino acid in urine",
- "amino acid level phenotype",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
"increased level of carboxylic acid in urine",
+ "increased level of organic acid in urine",
+ "amino acid",
+ "urine amino acid level phenotype",
"Glycosuria",
"increased level of monosaccharide in urine",
- "primary amide",
- "organic amino compound",
- "Proximal renal tubular acidosis",
- "polypeptide",
- "Hyperuricosuria",
+ "peptide",
+ "carboxamide",
+ "increased level of protein polypeptide chain in urine",
+ "amide",
"macromolecule",
- "increased level of purines",
- "Abnormal urinary organic compound level",
- "urine organic anion level phenotype",
+ "increased level of uric acid in urine",
+ "Abnormality of urinary uric acid level",
+ "urine uric acid level phenotype",
+ "increased level of hydrogencarbonate in urine",
"hydrogencarbonate level phenotype",
- "decreased functionality of the material anatomical entity",
+ "urine hydrogencarbonate level phenotype",
+ "carbon oxoanion",
+ "Abnormal urine metabolite level",
+ "Bicarbonaturia",
+ "decreased functionality of the nephron epithelium",
+ "tissue physiology phenotype",
+ "decreased functionality of the renal tubule",
"decreased functionality of the anatomical structure",
- "Renal tubular acidosis",
- "epithelial tube phenotype",
"excretory tube physiology phenotype",
- "tissue phenotype",
- "tube physiology phenotype",
- "Bicarbonate-wasting renal tubular acidosis",
- "anatomical conduit physiology phenotype",
- "decreased functionality of the tissue",
- "renal tubule",
"decreased functionality of the multicellular anatomical structure",
+ "nephron tubule",
+ "decreased functionality of the material anatomical entity",
+ "decreased functionality of the kidney epithelium",
+ "Renal tubular acidosis",
+ "excretory tube phenotype",
+ "epithelium physiology phenotype",
+ "decreased functionality of the tube",
+ "uriniferous tubule",
+ "nephron epithelium",
"anatomical entity dysfunction in independent continuant",
- "nephron tubule phenotype",
- "Renal tubular dysfunction",
- "nephron phenotype",
- "kidney epithelium phenotype",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "decreased functionality of the anatomical conduit",
"excretory tube",
- "kidney epithelium",
+ "decreased functionality of the epithelial tube",
+ "decreased functionality of the tissue",
"tissue",
- "excretory tube phenotype",
- "epithelium phenotype",
- "decreased functionality of the kidney epithelium",
- "Metabolic acidosis",
+ "tissue phenotype",
+ "decreased functionality of the nephron tubule",
+ "decreased functionality of the excretory tube",
+ "nephron phenotype",
+ "kidney epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Renal tubular dysfunction",
+ "Abnormality of acid-base homeostasis",
"Hyperchloremic acidosis",
- "Abnormal urine pH",
- "muscle structure",
- "protein polypeptide chain",
- "muscle organ physiology phenotype",
+ "Hyperchloremic metabolic acidosis",
+ "Abnormal muscle physiology",
"Abnormality of the musculature",
- "muscle organ",
+ "muscle structure",
+ "muscle structure phenotype",
+ "epithelial tube",
"muscle structure physiology phenotype",
- "Aciduria",
- "muscle organ phenotype",
+ "decreased multicellular anatomical structure mass",
+ "Decreased anatomical entity mass",
+ "Generalized aminoaciduria",
"Muscle weakness",
- "Decreased body weight",
- "material anatomical entity mass phenotype",
"anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "Growth abnormality",
- "decreased material anatomical entity mass",
+ "urine phosphate level phenotype",
"anatomical entity mass phenotype",
- "hydrogencarbonate",
- "multicellular anatomical structure mass phenotype",
"multicellular organism mass phenotype",
- "Pain",
+ "muscle organ physiology phenotype",
+ "Decreased body weight",
+ "decreased anatomical structure mass",
+ "delayed biological_process",
+ "Abnormality of body weight",
+ "Weight loss",
+ "decreased material anatomical entity mass",
"Constitutional symptom",
+ "Bone pain",
"musculoskeletal system physiology phenotype",
"Abnormal musculoskeletal physiology",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "Osteomalacia",
- "cation",
- "blood potassium atom level phenotype",
- "blood cation level phenotype",
+ "viscus phenotype",
+ "decreased level of potassium atom in blood",
+ "Hypoglycemia",
+ "inorganic molecular entity",
+ "renal/urinary system phenotype",
+ "Hypokalemia",
+ "primary amide",
+ "role blood level phenotype",
"blood monovalent inorganic cation level phenotype",
- "muscle structure phenotype",
- "growth phenotype",
+ "cation",
+ "inorganic ion",
"Abnormal blood cation concentration",
- "Generalized aminoaciduria",
- "Abnormal blood potassium concentration",
- "monovalent inorganic cation",
"potassium atom level phenotype",
- "potassium atom",
- "urine glucose level phenotype",
- "Decreased anatomical entity mass",
- "Abnormality of mitochondrial metabolism",
- "polyatomic ion",
- "fatty acid level phenotype",
- "carnitine",
- "amino acid",
- "Abnormal circulating carnitine concentration",
- "Abnormality of the mitochondrion",
- "cell phenotype",
- "carbonyl compound",
- "urine phosphate level phenotype",
- "zwitterion",
- "organic acid",
- "blood carboxylic acid level phenotype",
- "epithelium",
- "Abnormal circulating monocarboxylic acid concentration",
+ "organonitrogen heterocyclic compound",
+ "Abnormal urine potassium concentration",
+ "organic anion",
+ "Increased urinary potassium",
+ "lung phenotype",
+ "acid bodily fluid level phenotype",
+ "oxide",
"decreased level of amino-acid betaine",
- "cytoplasm",
+ "decreased functionality of the epithelium",
"amino-acid betaine level phenotype",
- "monocarboxylic acid",
- "cellular_component",
+ "carnitine",
+ "carbon group molecular entity",
"amino-acid betaine",
- "Abnormal circulating fatty-acid concentration",
- "Abnormal circulating lipid concentration",
- "onium betaine",
- "fatty acid",
- "carboxylic acid",
+ "abdominal segment element",
+ "ammonium betaine",
"fatty acid anion",
- "hydrogen molecular entity",
- "Abnormal cellular phenotype",
- "organic anion",
- "Abnormal circulating carboxylic acid concentration",
- "polyatomic anion",
- "oxide",
- "intracellular membrane-bounded organelle",
- "obsolete cell",
- "dipolar compound",
- "carboxylic acid anion",
- "Abnormality of body weight",
+ "alkaline earth metal atom",
+ "decreased level of carnitine in blood",
+ "Abnormal circulating monocarboxylic acid concentration",
+ "blood carboxylic acid level phenotype",
+ "Abnormal circulating fatty-acid concentration",
+ "growth phenotype",
+ "Abnormality of bone mineral density",
"oxoacid",
- "increased level of hydrogencarbonate in urine",
+ "amino acid derivative level phenotype",
+ "cell",
"carbon oxoacid",
- "oxoanion",
- "cellular anatomical entity",
- "Weight loss",
- "cellular_component phenotype",
- "Bone pain",
- "uric acid",
- "increased level of nitrogen molecular entity in blood",
- "nephron epithelium phenotype",
- "oxopurine",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "monocarboxylic acid anion",
+ "carbonyl compound",
+ "zwitterion",
+ "obsolete cell",
+ "fatty acid level phenotype",
+ "Abnormal circulating carboxylic acid concentration",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "organic ion",
+ "Abnormal blood potassium concentration",
+ "glucose",
+ "mitochondrion",
+ "blood monocarboxylic acid level phenotype",
"hydroxides",
- "purines",
- "decreased level of purines",
- "heteropolycyclic compound",
- "heterobicyclic compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
+ "abdomen",
+ "polyatomic anion",
+ "Renal insufficiency",
+ "Abnormal circulating fatty-acid anion concentration",
+ "Abnormal urine amino acid level",
+ "organic molecule",
+ "decreased level of purines",
+ "blood cation level phenotype",
+ "cellular_component phenotype",
"nucleobase",
- "imidazopyrimidine",
- "Low-molecular-weight proteinuria",
- "intracellular anatomical structure",
- "organonitrogen heterocyclic compound",
- "urine hydrogencarbonate level phenotype",
- "decreased muscle organ strength",
"organic heterobicyclic compound",
- "cyclic compound",
- "decreased functionality of the epithelium",
- "Decreased multicellular organism mass",
- "organic molecule",
- "Hyperchloremic metabolic acidosis",
- "quaternary nitrogen compound",
- "polycyclic compound",
+ "Abnormal circulating organic compound concentration",
"aromatic compound",
- "decreased anatomical structure mass",
"heterocyclic compound",
- "nitrogen molecular entity",
- "musculature",
- "musculature of body",
- "decreased level of phosphate in blood",
- "Abnormal urine carboxylic acid level",
+ "organic cyclic compound",
+ "cytoplasm",
+ "Abnormal circulating nucleobase concentration",
+ "Low-molecular-weight proteinuria",
+ "monocarboxylic acid",
+ "tube phenotype",
+ "organic heterocyclic compound",
+ "increased level of purines",
+ "skeletal system morphology phenotype",
+ "oxopurine",
+ "organic molecular entity",
+ "intracellular membrane-bounded organelle",
+ "organic heteropolycyclic compound",
+ "Hypouricemia",
+ "nephron",
+ "Abnormal circulating lipid concentration",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "dipolar compound",
+ "nitrogen molecular entity level phenotype",
+ "nephron epithelium phenotype",
+ "molecule",
"blood carnitine level phenotype",
- "Reduced bone mineral density",
- "Proteinuria",
+ "organic oxo compound",
+ "decreased role blood level",
"Abnormal blood phosphate concentration",
- "bone element mass density phenotype",
+ "cyclic compound",
+ "blood nucleobase level phenotype",
+ "Abnormality of mitochondrial metabolism",
+ "blood monoatomic ion level phenotype",
+ "skeletal system",
+ "musculature of body phenotype",
"musculoskeletal system phenotype",
- "monoatomic ion",
+ "blood potassium atom level phenotype",
+ "Abnormal bone structure",
+ "musculature",
+ "multicellular organismal process",
+ "abdominal segment element physiology phenotype",
+ "ion",
+ "carboxylic acid anion",
+ "elemental molecular entity",
+ "heteropolycyclic compound",
+ "polyatomic entity",
+ "protein polypeptide chain",
+ "ossification",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "phosphorus molecular entity",
+ "musculature of body",
+ "phosphorus oxoacids and derivatives",
+ "phosphoric acid derivative",
+ "Decreased anatomical entity mass density",
+ "body proper",
+ "lipid level phenotype",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
"monoatomic entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
+ "increased level of chemical entity",
+ "quaternary nitrogen compound",
+ "Reduced bone mineral density",
+ "Abnormal bone ossification",
+ "blood uric acid level phenotype",
+ "Stage 5 chronic kidney disease",
+ "cellular anatomical structure",
+ "Abnormality of the mitochondrion",
+ "Rickets",
+ "Hypophosphatemic rickets",
+ "pnictogen molecular entity",
+ "Hypophosphatemia",
+ "Decreased bone element mass density",
+ "biological_process",
"Abnormal blood ion concentration",
- "Abnormality of bone mineral density",
- "Hypouricemia",
- "musculoskeletal system",
+ "Abnormality of the musculoskeletal system",
"anatomical entity mass density phenotype",
- "phosphoric acid derivative",
- "Abnormal circulating nucleobase concentration",
+ "urine glucose level phenotype",
+ "sodium atom level phenotype",
+ "alkali metal atom",
+ "decreased level of chemical entity",
+ "Renal sodium wasting",
+ "sodium atom",
+ "polyatomic ion",
+ "urine sodium atom level phenotype",
+ "intracellular organelle",
+ "Abnormality of fluid regulation",
+ "renal tubule",
+ "decreased level of phosphate in blood",
+ "biological regulation phenotype",
+ "increased level of chemical entity in blood",
+ "decreased functionality of the anatomical entity",
+ "regulation of body fluid levels phenotype",
+ "material anatomical entity mass phenotype",
+ "bodily fluid phenotype",
+ "cellular_component",
+ "organelle",
+ "regulation of biological quality",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "polypeptide",
+ "homeostatic process",
+ "regulation of biological quality phenotype",
+ "skeletal element",
+ "intracellular anatomical structure",
+ "increased level of chemical entity in urine",
+ "abdomen element",
+ "increased level of potassium atom in urine",
+ "increased level of calcium atom in urine",
+ "blood fatty acid level phenotype",
+ "Abnormal urine pH",
+ "Abnormal respiratory system physiology",
+ "excreta",
+ "organic amino compound",
+ "calcium atom level phenotype",
+ "s-block element atom",
+ "membrane-bounded organelle",
+ "blood glucose level phenotype",
+ "urine",
+ "musculoskeletal system",
+ "increased urine role level",
+ "oxoanion",
+ "carbohydrate",
+ "cavitated compound organ phenotype",
+ "Abnormality of urine calcium concentration",
+ "mitochondrion phenotype",
+ "process",
+ "urine calcium atom level phenotype",
+ "Hyperuricosuria",
+ "abdomen element physiology phenotype",
+ "purines",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "Osteomalacia",
+ "polycyclic compound",
+ "upper urinary tract phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormal pulmonary interstitial morphology",
+ "Acidosis",
+ "compound organ physiology phenotype",
+ "Pulmonary fibrosis",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "organism substance phenotype",
+ "organ system subdivision",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "renal system",
+ "Abnormality of the urinary system",
+ "chemical homeostasis phenotype",
+ "phosphate",
+ "excretory system",
+ "Abnormal lung morphology",
+ "skeletal element phenotype",
+ "kidney phenotype",
+ "Abnormality of urine homeostasis",
+ "growth",
+ "organ system subdivision phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "trunk region element physiology phenotype",
+ "thoracic segment organ",
"monosaccharide",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of urine bicarbonate level",
"haemolymphatic fluid",
- "nephron tubule",
- "blood nucleobase level phenotype",
- "heteroarene",
- "organism substance",
- "occurrent",
- "decreased functionality of the epithelial tube",
- "Abnormal circulating fatty-acid anion concentration",
- "blood oxygen molecular entity level phenotype",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "process",
- "glucose homeostasis phenotype",
- "musculature of body phenotype",
- "Abnormality of blood and blood-forming tissues",
- "epithelium physiology phenotype",
- "abdominal segment of trunk",
- "excreta",
+ "chemical homeostasis",
+ "role bodily fluid level phenotype",
+ "Abnormal urinary organic compound level",
+ "amino-acid derivative",
+ "cellular process",
+ "renal system physiology phenotype",
+ "urine potassium atom level phenotype",
+ "anatomical structure phenotype",
+ "respiratory tract",
+ "chemical entity level phenotype",
+ "fatty acid",
+ "hydrogen molecular entity",
+ "Azotemia",
+ "subdivision of tube phenotype",
"chemical entity",
- "molecular entity",
- "lung morphology phenotype",
- "organic ion",
- "kidney physiology phenotype",
- "organic molecular entity",
- "Pulmonary fibrosis",
+ "bodily fluid",
+ "bone element mass density phenotype",
+ "regulation of body fluid levels",
"main group molecular entity",
- "blood carbohydrate level phenotype",
- "anatomical collection phenotype",
- "mitochondrion phenotype",
- "blood chemical entity level phenotype",
- "heteroorganic entity",
- "increased level of potassium atom in urine",
- "trunk phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "lateral structure phenotype",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "endoderm-derived structure",
- "inorganic molecular entity",
"metabolic process",
- "urine potassium atom level phenotype",
- "anatomical system",
+ "upper urinary tract",
+ "compound organ phenotype",
+ "amino acid level phenotype",
+ "Decreased multicellular organism mass",
+ "Abnormal blood glucose concentration",
+ "abdominal segment element phenotype",
+ "glucose homeostasis",
+ "multicellular organism",
+ "delayed growth",
+ "oxygen molecular entity",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "hematopoietic system phenotype",
+ "decreased muscle organ strength",
+ "glucose homeostasis phenotype",
+ "organochalcogen compound",
+ "viscus",
+ "abdomen element phenotype",
+ "Dehydration",
+ "heteroorganic entity",
+ "organism subdivision",
+ "thoracic segment organ phenotype",
+ "biological regulation",
+ "main group element atom",
+ "Abnormal blood monovalent inorganic cation concentration",
"Abnormal glucose homeostasis",
- "Abnormality of urine calcium concentration",
- "tube",
- "anatomical entity physiology phenotype",
- "carboxamide",
- "compound organ",
- "organic heteropolycyclic compound",
- "trunk region element",
- "quality",
- "Abnormal cellular physiology",
- "subdivision of trunk phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of organism along main body axis",
- "anatomical entity morphology in the respiratory system phenotype",
- "renal tubule phenotype",
- "organ",
- "aldose",
- "epithelial tube physiology phenotype",
- "ion",
- "nephron",
- "cell",
- "material anatomical entity phenotype",
- "decreased level of uric acid in blood",
- "Abnormal circulating organic compound concentration",
- "Abnormal muscle physiology",
- "blood organic molecular entity level phenotype",
- "carbon group molecular entity",
- "regulation of body fluid levels phenotype",
- "Abnormality of the musculoskeletal system",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "Abnormal lung morphology",
+ "heterobicyclic compound",
"phenotypic effect",
- "Abnormality of the genitourinary system",
- "blood monoatomic ion level phenotype",
- "material anatomical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "skeletal system",
- "carbohydrate",
- "blood fatty acid anion level phenotype",
- "subdivision of organism along main body axis phenotype",
- "Hypophosphatemia",
- "tube phenotype",
- "genitourinary system phenotype",
- "increased level of protein polypeptide chain in urine",
- "Increased urinary potassium",
- "Abnormal urine potassium concentration",
- "organic oxo compound",
- "Abnormality of metabolism/homeostasis",
- "organism subdivision phenotype",
- "increased level of chemical entity in blood",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "bicyclic compound",
- "renal system physiology phenotype",
- "Abnormal respiratory system physiology",
- "urine chemical entity level phenotype",
- "organ phenotype",
- "ossification",
- "Abnormal respiratory system morphology",
- "Abnormality of the respiratory system",
- "peptide",
- "Acidosis",
- "phenotype",
- "thoracic segment organ",
- "biological_process",
- "thoracic segment organ phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "Abnormal bone ossification",
- "homeostatic process",
- "carbohydrate homeostasis phenotype",
- "respiratory system phenotype",
- "carbon oxoanion",
- "anatomical conduit",
- "acid bodily fluid level phenotype",
- "lung fibrosis",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
+ "hexose",
+ "potassium atom",
+ "blood",
+ "lung morphology phenotype",
+ "subdivision of tube",
+ "occurrent",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "muscle organ",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "multicellular organism chemical entity level phenotype",
"haemolymphatic fluid phenotype",
- "urine uric acid level phenotype",
- "thoracic cavity element phenotype",
+ "blood fatty acid anion level phenotype",
+ "carbohydrate homeostasis",
+ "organism substance",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "p-block molecular entity",
+ "Abnormal cellular physiology",
+ "organic aromatic compound",
+ "blood organic molecular entity level phenotype",
+ "chalcogen molecular entity",
"anatomical structure",
- "anion",
- "organ physiology phenotype",
- "nephron epithelium",
- "lipid",
- "homeostatic process phenotype",
- "organism subdivision",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "oxoacid derivative",
- "respiration organ",
- "thoracic cavity element",
- "proximo-distal subdivision of respiratory tract",
- "subdivision of tube",
- "anatomical conduit phenotype",
- "viscus",
- "organ system subdivision",
- "decreased functionality of the anatomical entity",
- "organic cyclic compound",
- "organ part phenotype",
- "molecule",
- "hematopoietic system phenotype",
- "trunk",
- "s-block element atom",
- "multicellular anatomical structure phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "cavitated compound organ physiology phenotype",
- "pair of lungs",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical collection",
+ "anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "heteroarene",
"atom",
+ "decreased level of uric acid in blood",
+ "lateral structure phenotype",
+ "blood carbohydrate level phenotype",
+ "kidney epithelium",
+ "Pain",
+ "trunk phenotype",
"anatomical system physiology phenotype",
- "chemical entity level phenotype",
- "trunk region element phenotype",
+ "epithelial tube physiology phenotype",
+ "material entity",
+ "anatomical entity fibrosis",
+ "anatomical system",
+ "organooxygen compound",
+ "trunk",
"multicellular organism morphology phenotype",
- "Abnormal circulating nitrogen compound concentration",
- "viscus phenotype",
- "organ part",
+ "independent continuant",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "abdominal segment of trunk",
+ "Bicarbonate-wasting renal tubular acidosis",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "carbohydrates and carbohydrate derivatives",
- "alkaline earth metal atom",
- "subdivision of tube phenotype",
- "upper urinary tract phenotype",
- "specifically dependent continuant",
- "Abnormal pulmonary interstitial morphology",
+ "molecular entity",
+ "anion",
+ "Abnormality of the kidney",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "bone element",
+ "calcium atom",
+ "homeostatic process phenotype",
"inorganic cation",
- "urine sodium atom level phenotype",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "taxon specific phenotype",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "entity",
- "body proper",
- "respiration organ phenotype",
- "independent continuant",
- "organism substance phenotype",
- "regulation of body fluid levels",
- "multicellular organism",
- "lateral structure",
- "Hypoglycemia",
- "lower respiratory tract",
- "heteroatomic molecular entity",
+ "Abnormal circulating carnitine concentration",
+ "lung fibrosis",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
"All",
- "bodily fluid",
- "blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "respiratory system",
- "respiratory airway",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "Abnormal respiratory system morphology",
+ "material anatomical entity phenotype",
+ "uric acid",
+ "anatomical entity physiology phenotype",
+ "monovalent inorganic cation",
+ "subdivision of organism along main body axis phenotype",
+ "hydrogencarbonate",
"respiratory system physiology phenotype",
- "anatomical system phenotype",
- "organooxygen compound",
- "glucose homeostasis",
- "biological regulation",
- "bodily fluid phenotype",
- "role blood level phenotype",
+ "organ phenotype",
"hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "Abnormal circulating metabolite concentration",
- "multicellular organism chemical entity level phenotype",
- "increased level of uric acid in urine",
- "decreased functionality of the excretory tube",
- "carbohydrate homeostasis",
- "abdomen element phenotype",
- "decreased functionality of the anatomical conduit",
- "hexose",
- "blood glucose level phenotype",
- "Abnormal circulating carbohydrate concentration",
- "Abnormal renal physiology",
- "Abnormal urine sodium concentration",
- "chemical homeostasis phenotype",
- "uriniferous tubule",
- "abdomen",
- "kidney",
- "Abnormal blood glucose concentration",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "thoracic segment of trunk",
- "chemical homeostasis",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "epithelial tube",
- "blood lipid level phenotype",
- "blood fatty acid level phenotype",
- "Abnormality of the upper urinary tract",
- "abdominal segment element physiology phenotype",
- "amino acid derivative",
- "phosphorus oxoacids and derivatives",
- "aldohexose",
- "mitochondrion",
- "compound organ physiology phenotype",
- "calcium atom level phenotype",
- "organic heterocyclic compound",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
+ "subdivision of trunk",
+ "organonitrogen compound",
+ "subdivision of organism along main body axis",
+ "entity",
"Chronic kidney disease",
- "monocarboxylic acid anion",
- "abdominal segment element",
- "cavitated compound organ",
- "material entity",
- "abdomen element",
- "renal system phenotype",
- "tissue physiology phenotype",
- "cavitated compound organ phenotype",
- "renal system",
- "growth",
- "inorganic ion",
- "Hypophosphatemic rickets",
+ "respiration organ phenotype",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical entity",
+ "tube physiology phenotype",
+ "Abnormal homeostasis",
"lateral structure physiology phenotype",
+ "blood phosphate level phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "thoracic cavity element",
+ "genitourinary system",
+ "thoracic segment of trunk",
+ "Growth abnormality",
+ "phosphate level phenotype",
+ "Hypercalciuria",
+ "cell phenotype",
+ "taxon specific phenotype",
+ "respiratory system",
+ "Abnormal cellular phenotype",
+ "lipid",
+ "respiratory airway",
+ "Renal phosphate wasting",
+ "lung",
+ "pair of lungs",
+ "lower respiratory tract",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "endoderm-derived structure",
+ "material anatomical entity physiology phenotype",
"decreased level of chemical entity in blood",
+ "organ part phenotype",
+ "organ part",
+ "lateral structure",
+ "renal system phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "main body axis",
+ "Proteinuria",
"Decreased circulating carnitine concentration",
- "intracellular organelle",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element physiology phenotype",
- "Renal insufficiency",
- "decreased anatomical entity strength",
- "glucose",
- "sodium atom level phenotype",
- "renal/urinary system phenotype",
- "Renal sodium wasting",
- "trunk region element physiology phenotype",
- "Abnormal skeletal morphology",
- "regulation of biological quality phenotype",
- "decreased role blood level",
- "kidney phenotype",
- "anatomical entity",
- "upper urinary tract",
- "calcium atom",
- "decreased level of carnitine in blood",
- "lung phenotype",
- "Dehydration",
- "abdominal segment element phenotype",
- "amino acid derivative level phenotype",
- "phosphate",
- "blood monocarboxylic acid level phenotype",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormality of the kidney",
+ "bicyclic compound",
+ "trunk region element",
+ "Abnormality of the upper urinary tract",
+ "thoracic cavity element phenotype",
+ "Abnormal circulating nitrogen compound concentration",
+ "oxoacid derivative",
"Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "urine calcium atom level phenotype",
- "organochalcogen compound",
- "subdivision of trunk",
+ "nephron tubule phenotype",
+ "organic acid",
+ "anatomical conduit",
+ "imidazopyrimidine",
+ "anatomical entity morphology in the respiratory system phenotype",
"metal atom",
- "Stage 5 chronic kidney disease",
- "increased level of calcium atom in urine",
- "Hypokalemia",
- "Hypercalciuria",
- "respiratory system morphology phenotype",
- "increased level of chemical entity",
- "Abnormality of fluid regulation",
- "amide",
- "Abnormality of urine bicarbonate level",
+ "aldose",
+ "genitourinary system phenotype",
+ "urine organic anion level phenotype",
+ "respiration organ",
"phosphorus oxoacid derivative",
- "regulation of biological quality",
- "urine",
- "biological regulation phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "ammonium betaine",
- "sodium atom",
- "alkali metal atom",
- "phosphate level phenotype",
- "Abnormality of the skeletal system",
- "bone element phenotype",
- "Abnormality of urinary uric acid level",
- "Bicarbonaturia",
- "decreased level of chemical entity",
- "Abnormal bone structure",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "organic aromatic compound",
- "elemental molecular entity",
- "blood uric acid level phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "Organic aciduria",
- "membrane-bounded organelle",
- "blood phosphate level phenotype",
- "blood phenotype",
- "multicellular organismal process",
- "organelle",
- "skeletal system phenotype"
+ "increased level of glucose in urine",
+ "continuant",
+ "anatomical system phenotype",
+ "organ",
+ "multicellular anatomical structure phenotype",
+ "compound organ",
+ "Metabolic acidosis",
+ "tube",
+ "multicellular anatomical structure mass phenotype",
+ "onium betaine",
+ "endoderm-derived structure phenotype",
+ "aldohexose",
+ "epithelium",
+ "anatomical collection phenotype",
+ "Abnormal urine sodium concentration",
+ "carbohydrate homeostasis phenotype"
],
"has_phenotype_count": 29,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0060779",
+ "id": "MONDO:0009217",
"category": "biolink:Disease",
- "name": "acquired Fanconi syndrome",
+ "name": "Fanconi-like syndrome",
"full_name": null,
"deprecated": null,
- "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
"xref": [
- "MEDGEN:90966",
- "NCIT:C78296",
- "SCTID:236467001",
- "UMLS:C0341702"
+ "DOID:0090066",
+ "MEDGEN:56237",
+ "MESH:C536855",
+ "OMIM:227850",
+ "SCTID:236469003",
+ "UMLS:C0151638"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
- "synonym": ["acquired Fanconi syndrome"],
+ "synonym": ["Fanconi-like syndrome"],
"uri": null,
"iri": null,
"namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0001083",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome",
- "full_name": null,
- "deprecated": null,
- "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
- "xref": [
- "DOID:1062",
- "GARD:9120",
- "MEDGEN:4653",
- "MESH:D005198",
- "NANDO:2100027",
- "NANDO:2200187",
- "NCIT:C3034",
- "SCTID:236466005",
- "SCTID:40488004",
- "UMLS:C0015624"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": [
- "De toni-Fanconi syndrome",
- "De toni-debre-Fanconi syndrome",
- "Fanconi syndrome",
- "Fanconi's syndrome",
- "Fanconi-de toni syndrome",
- "Fanconi-de-toni syndrome",
- "Lignac-Fanconi syndrome",
- "adult Fanconi syndrome",
- "congenital Fanconi syndrome",
- "deToni Fanconi syndrome",
- "infantile nephropathic cystinosis",
- "toni-debre-Fanconi syndrome"
- ],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0009217",
- "category": "biolink:Disease",
- "name": "Fanconi-like syndrome",
- "full_name": null,
- "deprecated": null,
- "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.",
- "xref": [
- "DOID:0090066",
- "MEDGEN:56237",
- "MESH:C536855",
- "OMIM:227850",
- "SCTID:236469003",
- "UMLS:C0151638"
- ],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": ["Fanconi-like syndrome"],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": [
- "HP:0002754",
- "HP:0001876",
- "HP:0005939",
- "HP:0002783",
- "HP:0007606"
+ "has_phenotype": [
+ "HP:0002754",
+ "HP:0001876",
+ "HP:0005939",
+ "HP:0002783",
+ "HP:0007606"
],
"has_phenotype_label": [
"Osteomyelitis",
@@ -5551,475 +5300,405 @@
"Multiple cutaneous malignancies"
],
"has_phenotype_closure": [
- "UPHENO:0002635",
- "HP:0002664",
"UPHENO:0003811",
- "HP:0007606",
- "UBERON:0004121",
- "HP:0001574",
- "HP:0011947",
- "HP:0032101",
- "HP:0002719",
- "UBERON:0000060",
- "UPHENO:0002757",
- "UPHENO:0004536",
- "UBERON:0000025",
+ "UPHENO:3000003",
+ "UPHENO:0002548",
+ "UBERON:0002199",
+ "HP:0000951",
+ "UPHENO:0002635",
+ "HP:0011793",
"HP:0002205",
+ "UBERON:0005906",
+ "UBERON:0000025",
"UBERON:0003103",
- "UBERON:0004111",
"UBERON:0005177",
- "UBERON:0005906",
- "HP:0002107",
- "UPHENO:0002448",
- "UPHENO:0002531",
- "UPHENO:0002526",
- "UBERON:0009569",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "HP:0002103",
- "UBERON:0005181",
- "UBERON:0000064",
- "UPHENO:0002754",
- "NCBITaxon:33154",
- "UBERON:0015212",
- "HP:0012252",
- "UPHENO:0002548",
- "UBERON:0002100",
- "UBERON:0000915",
"UBERON:0000072",
- "UBERON:0000170",
+ "HP:0002088",
+ "UBERON:0000977",
"UBERON:0000042",
- "UPHENO:0081590",
+ "UBERON:0000077",
+ "HP:0002795",
+ "UPHENO:0081581",
+ "UPHENO:0002574",
+ "HP:0012252",
+ "UBERON:0011676",
+ "UBERON:0000064",
+ "UBERON:0000481",
+ "UPHENO:0003077",
+ "UBERON:0005181",
+ "HP:0002103",
"UBERON:0013702",
- "UBERON:0001004",
- "UBERON:0000065",
+ "UBERON:0002097",
+ "NCBITaxon:33208",
"NCBITaxon:1",
- "UBERON:0004119",
- "UPHENO:0063787",
- "UPHENO:0004064",
+ "UPHENO:0005029",
+ "UPHENO:0081590",
+ "UPHENO:0087433",
+ "HP:0002719",
+ "UBERON:0015212",
+ "UBERON:0002416",
+ "UPHENO:0002731",
+ "NCBITaxon:6072",
+ "HP:0002086",
+ "UBERON:0000170",
+ "HP:0032101",
+ "UBERON:0002100",
+ "UBERON:0000060",
+ "HP:0007606",
+ "HP:0011947",
+ "UBERON:0002075",
+ "UPHENO:0002859",
+ "UBERON:0004111",
+ "NCBITaxon:33154",
+ "UPHENO:0004536",
+ "NCBITaxon:131567",
+ "UPHENO:0002757",
+ "UPHENO:0002668",
+ "HP:0002664",
+ "CL:0001035",
+ "CL:0000232",
+ "GO:0006954",
+ "CL:0000219",
+ "UPHENO:0002531",
+ "HP:0001876",
+ "CL:0000151",
+ "UPHENO:0002554",
+ "UBERON:0001474",
"UBERON:0000062",
+ "UPHENO:0004064",
+ "UBERON:0004119",
"UBERON:0000479",
- "HP:0010987",
- "UBERON:0013701",
- "HP:0005939",
- "HP:0012145",
- "UPHENO:0081581",
- "UBERON:0000077",
- "HP:0001873",
- "UPHENO:0086173",
- "HP:0011893",
- "UPHENO:0076675",
- "UPHENO:0076684",
- "UPHENO:0003077",
+ "UBERON:0000915",
+ "UPHENO:0080377",
+ "UBERON:0002405",
"UBERON:0001558",
- "UBERON:0000977",
- "CL:0000458",
+ "UPHENO:0081440",
+ "HP:0005561",
+ "UBERON:0000065",
+ "UPHENO:0002964",
+ "UPHENO:0074687",
+ "CL:0000000",
+ "HP:0002715",
+ "UPHENO:0002948",
+ "GO:0006950",
+ "UPHENO:0002988",
+ "BFO:0000040",
"UPHENO:0074751",
- "HP:0000118",
- "UPHENO:0002976",
- "UPHENO:0049588",
- "UBERON:0002075",
- "UPHENO:0074681",
- "UPHENO:0088166",
- "UPHENO:0085302",
+ "UPHENO:0002267",
+ "CL:0000233",
+ "UBERON:0010000",
+ "CL:0002092",
+ "UPHENO:0049587",
+ "HP:0002754",
+ "UPHENO:0002754",
"UBERON:0000465",
- "HP:0010978",
- "UBERON:0034923",
- "UBERON:0009778",
- "UPHENO:0002948",
- "UPHENO:0081440",
- "BFO:0000015",
- "UPHENO:0002525",
"UPHENO:0001003",
- "UBERON:0011216",
- "HP:0002086",
- "UPHENO:0083263",
+ "CL:0000255",
+ "UBERON:0000061",
+ "UBERON:0002193",
+ "UPHENO:0002823",
+ "CL:0000988",
+ "UPHENO:0002269",
+ "NCBITaxon:2759",
+ "BFO:0000015",
+ "UBERON:0001004",
+ "CL:0000764",
+ "BFO:0000002",
+ "UBERON:0001005",
+ "UPHENO:0002976",
"UPHENO:0074682",
- "HP:0032251",
- "HP:0001876",
- "UPHENO:0002902",
+ "UPHENO:0001001",
"UPHENO:0080693",
- "UPHENO:0005092",
- "UBERON:0002204",
- "UBERON:0000383",
- "UBERON:0000481",
- "BFO:0000003",
- "UBERON:0000467",
- "BFO:0000004",
- "HP:0002754",
- "UPHENO:0055024",
- "UPHENO:0077391",
- "UPHENO:0002267",
+ "UPHENO:0002568",
"UPHENO:0002949",
- "GO:0006952",
- "GO:0006950",
- "GO:0006954",
- "UPHENO:0080377",
- "UPHENO:0074624",
- "UPHENO:0002731",
- "UPHENO:0049584",
- "HP:0002795",
- "HP:0012649",
- "UBERON:0001015",
- "UPHENO:0002385",
- "HP:0000001",
+ "UPHENO:0002530",
+ "HP:0005939",
+ "UBERON:0001062",
+ "UBERON:0004120",
+ "UPHENO:0055024",
+ "UBERON:0015203",
+ "BFO:0000004",
+ "UPHENO:0002526",
"CL:0000329",
- "UPHENO:0002988",
- "UPHENO:0086172",
- "UPHENO:0077418",
- "UPHENO:0011531",
- "UPHENO:0087433",
+ "UPHENO:0076684",
+ "UPHENO:0002525",
+ "UBERON:0001434",
+ "UBERON:0011216",
+ "CL:0002242",
+ "UPHENO:0054970",
+ "HP:0000118",
+ "CL:0000457",
+ "HP:0000001",
+ "UBERON:0002390",
"HP:0011843",
- "UBERON:0005178",
- "UBERON:0002193",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0002088",
- "UPHENO:0049586",
- "UPHENO:0002536",
- "CL:0000763",
- "BFO:0000020",
- "UPHENO:0002734",
- "UPHENO:0002816",
- "UBERON:0000468",
- "UBERON:0034925",
- "BFO:0000001",
- "BFO:0000002",
- "HP:0012647",
- "UPHENO:0049587",
- "UBERON:0010000",
- "UBERON:0001005",
- "UPHENO:0011498",
- "UPHENO:0080010",
- "CL:0000232",
- "UBERON:0000171",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0054970",
- "UPHENO:0080662",
- "UBERON:0013522",
- "GO:0008150",
- "UPHENO:0049585",
- "UPHENO:0003432",
- "HP:0011875",
- "UBERON:0001434",
- "UPHENO:0001001",
- "UPHENO:0002530",
- "CL:0000988",
- "HP:0002783",
- "NCBITaxon:2759",
- "UBERON:0001062",
- "UPHENO:0001002",
- "UPHENO:0002964",
- "OBI:0100026",
+ "HP:0001871",
+ "HP:0010978",
+ "HP:0000924",
"GO:0050896",
- "UBERON:0002405",
- "CL:0001035",
+ "UBERON:0002371",
+ "HP:0002783",
"UPHENO:0082875",
- "HP:0025354",
- "UBERON:0000061",
- "UBERON:0004120",
- "UPHENO:0002269",
- "HP:0002715",
- "HP:0011873",
- "UPHENO:0002574",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:6072",
- "UPHENO:0002554",
- "HP:0011842",
- "PATO:0000001",
- "CL:0000233",
- "UBERON:0015203",
- "UPHENO:0063722",
- "HP:0008069",
- "UPHENO:0005029",
- "UBERON:0004765",
- "HP:0005561",
- "HP:0025461",
- "HP:0001881",
- "CL:0000457",
- "UPHENO:0076692",
- "NCBITaxon:33208",
- "CL:0000151",
"CL:0000225",
- "UBERON:0002048",
- "CL:0002242",
- "UBERON:0002199",
- "BFO:0000040",
- "UBERON:0002390",
+ "UPHENO:0002448",
"UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0002859",
- "UPHENO:0002963",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0002416",
- "HP:0001871",
- "CL:0000255",
+ "CL:0000458",
+ "UBERON:0013522",
+ "UBERON:0002204",
+ "UBERON:0004121",
"CL:0000738",
- "UPHENO:3000003",
- "UBERON:0002097",
- "HP:0000924",
- "HP:0033127",
+ "HP:0008069",
"CL:0000081",
- "CL:0002092",
- "HP:0001872",
- "UPHENO:0087123",
- "HP:0000951",
- "UPHENO:0077348",
- "CL:0000764",
- "UBERON:0001474",
- "UPHENO:0002823",
- "UPHENO:0002668",
- "UPHENO:0074687",
- "CL:0000000",
- "UPHENO:0077373",
- "UPHENO:0085371",
+ "UPHENO:0002816",
+ "BFO:0000001",
+ "UPHENO:0002734",
+ "CL:0000763",
+ "UPHENO:0074681",
+ "BFO:0000003",
+ "HP:0001574",
+ "UBERON:0013701",
+ "UPHENO:0002536",
+ "UPHENO:0005092",
+ "UPHENO:0074624",
+ "UPHENO:0002963",
+ "UBERON:0000171",
+ "UBERON:0004765",
+ "UPHENO:0049585",
+ "HP:0033127",
+ "UBERON:0001015",
+ "UBERON:0009778",
+ "UBERON:0002048",
+ "HP:0012649",
+ "UBERON:0000383",
+ "HP:0012647",
+ "HP:0012145",
+ "UPHENO:0001002",
+ "UBERON:0000467",
+ "GO:0006952",
+ "UBERON:0034925",
+ "UBERON:0005178",
+ "UPHENO:0049588",
+ "UPHENO:0083263",
+ "UPHENO:0004459",
+ "UPHENO:0002385",
+ "UBERON:0000468",
+ "UPHENO:0002902",
+ "UPHENO:0049584",
+ "UBERON:0009569",
+ "UPHENO:0076692",
+ "UBERON:0034923",
+ "UPHENO:0080662",
+ "GO:0008150",
+ "HP:0002107",
+ "UPHENO:0003432",
"UPHENO:0002263",
- "UPHENO:0004459"
+ "UPHENO:0049586"
],
"has_phenotype_closure_label": [
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "ectoderm-derived structure phenotype",
- "integument",
+ "Abnormality of the skin",
"Neoplasm",
- "integumental system",
- "skin of body",
- "integumental system phenotype",
- "Recurrent infections",
- "Recurrent respiratory infections",
- "Unusual infection",
- "lateral structure phenotype",
- "respiratory airway",
- "compound organ",
- "trunk region element",
- "serous sac",
- "respiratory system",
- "cellular organisms",
- "endoderm-derived structure",
- "pleura phenotype",
- "Eumetazoa",
- "pleural sac",
+ "neoplasm phenotype",
+ "ectoderm-derived structure",
"integument phenotype",
- "lung",
- "organ part phenotype",
- "respiratory system physiology phenotype",
- "mixed endoderm/mesoderm-derived structure phenotype",
- "subdivision of trunk",
- "respiratory tract",
- "serous membrane",
+ "Recurrent infections",
+ "integumental system",
+ "Respiratory tract infection",
"subdivision of tube",
- "Abnormal lung morphology",
- "subdivision of tube phenotype",
- "Neoplasm of the skin",
- "pleura",
- "Eukaryota",
+ "respiratory tract",
+ "anatomical wall phenotype",
+ "pleura phenotype",
+ "Abnormal respiratory system morphology",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "anatomical entity morphology phenotype",
+ "tube phenotype",
+ "Abnormality of the respiratory system",
+ "organ part",
+ "cellular organisms",
+ "mixed endoderm/mesoderm-derived structure",
"organ phenotype",
- "compound organ phenotype",
- "serous membrane phenotype",
- "endoderm-derived structure phenotype",
- "anatomical collection",
- "multi-tissue structure phenotype",
+ "integumental system phenotype",
+ "respiratory system physiology phenotype",
+ "respiratory system morphology phenotype",
+ "lower respiratory tract",
+ "organism subdivision",
+ "root",
"Abnormal pleura morphology",
- "proximo-distal subdivision of respiratory tract",
"thoracic cavity element",
- "body proper",
- "Opisthokonta",
+ "pleura",
+ "respiratory system",
+ "endoderm-derived structure",
+ "endoderm-derived structure phenotype",
"viscus",
- "respiratory system phenotype",
- "trunk",
- "anatomical conduit",
- "organism subdivision",
- "ectoderm-derived structure",
+ "subdivision of organism along main body axis",
"pleura morphology phenotype",
- "tube phenotype",
- "decreased number of myeloid cell",
+ "thoracic segment organ",
+ "body proper",
+ "Abnormal respiratory system physiology",
+ "Eukaryota",
+ "Abnormal lung morphology",
+ "respiratory airway",
+ "tube",
+ "pleural sac",
+ "compound organ",
+ "respiratory system phenotype",
+ "respiration organ",
+ "anatomical conduit phenotype",
+ "skeletal element",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Neoplasm of the skin",
+ "bone marrow cell",
+ "Metazoa",
+ "bone element",
+ "secretory cell",
+ "nucleate cell",
+ "Abnormal bone marrow cell morphology",
+ "trunk region element",
+ "bone marrow",
+ "eukaryotic cell",
+ "compound organ phenotype",
+ "response to stress phenotype",
+ "increased response to stimulus",
+ "motile cell",
"cell",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "Abnormality of the musculoskeletal system",
+ "blood cell",
"mesoderm-derived structure phenotype",
- "Abnormality of thrombocytes",
- "Pneumothorax",
- "Abnormal myeloid cell morphology",
- "mixed endoderm/mesoderm-derived structure",
- "number of platelet phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "Multiple cutaneous malignancies",
- "Abnormal respiratory system morphology",
- "blood cell phenotype",
- "Recurrent lower respiratory tract infections",
- "decreased number of anatomical structure",
- "specifically dependent continuant",
- "biogenic amine secreting cell",
- "immune system phenotype",
- "increased defense response in bone element",
- "increased biological_process in bone element",
- "multicellular organism phenotype",
- "material anatomical entity",
- "multicellular anatomical structure",
- "increased response to stress in bone element",
- "material anatomical entity phenotype",
- "anatomical system physiology phenotype",
- "material anatomical entity physiology phenotype",
- "tube",
- "anatomical entity physiology phenotype",
- "Abnormality of the skeletal system",
- "musculoskeletal system physiology phenotype",
- "anatomical structure phenotype",
- "lower respiratory tract",
- "increased response to stimulus",
- "lateral structure",
- "platelet phenotype",
- "response to stimulus",
- "skeletal system phenotype",
- "biological_process",
- "thoracic segment organ",
- "increased qualitatively response to stimulus",
- "multi-tissue structure",
- "continuant",
- "Abnormal inflammatory response",
- "anatomical structure",
- "response to stimulus phenotype",
- "anucleate cell",
- "skin of body phenotype",
- "Abnormality of the skin",
- "inflammatory response",
- "biological_process rate phenotype",
- "anatomical wall phenotype",
- "organ system subdivision phenotype",
- "All",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "number of cell phenotype",
- "number of myeloid cell phenotype",
- "phenotypic effect",
- "Abnormal musculoskeletal physiology",
+ "myeloid cell",
+ "hematopoietic cell",
+ "erythrocyte",
+ "main body axis",
+ "leukocyte",
+ "Multiple cutaneous malignancies",
+ "subdivision of trunk",
+ "hemolymphoid system",
+ "organ",
+ "tissue",
+ "entity",
+ "multicellular organism morphology phenotype",
+ "Opisthokonta",
+ "Pancytopenia",
+ "material entity",
+ "Recurrent respiratory infections",
+ "bone cell",
"independent continuant",
+ "Abnormality of immune system physiology",
+ "musculature of body phenotype",
+ "increased qualitatively response to stimulus",
"defense response",
- "multicellular organism",
+ "musculoskeletal system",
"Multiple bilateral pneumothoraces",
- "Metazoa",
- "occurrent",
- "increased biological_process",
- "Respiratory tract infection",
- "disconnected anatomical group",
- "musculature phenotype",
+ "hematopoietic system",
+ "biological_process",
+ "process",
"Increased inflammatory response",
- "increased inflammatory response",
- "musculature of body phenotype",
- "anatomical entity",
- "musculoskeletal system",
- "immune system",
- "phenotype",
- "Abnormality of immune system physiology",
+ "multicellular organism",
+ "musculoskeletal system phenotype",
+ "All",
+ "skeletal system",
+ "occurrent",
"increased qualitatively biological_process",
- "process",
- "Abnormality of the immune system",
- "pair of lungs",
- "immune system physiology phenotype",
- "immune system morphology phenotype",
- "organism",
- "Abnormal cellular phenotype",
- "quality",
- "Abnormal respiratory system physiology",
- "anatomical entity phenotype",
- "oxygen accumulating cell",
+ "serous membrane",
+ "multicellular anatomical structure",
+ "biogenic amine secreting cell",
+ "Unusual infection",
+ "anatomical system phenotype",
+ "Abnormality of the integument",
+ "anatomical conduit",
+ "taxon specific phenotype",
+ "response to stress",
+ "Abnormality of blood and blood-forming tissues",
+ "material anatomical entity",
"biological_process phenotype",
- "Osteomyelitis",
+ "Abnormal musculoskeletal physiology",
+ "Pneumothorax",
"inflammatory response phenotype",
- "anatomical entity morphology phenotype",
- "response to stress",
- "bone element",
- "musculature of body",
- "Abnormality of the integument",
- "main body axis",
- "musculature",
- "number of anatomical enitites of type anatomical structure phenotype",
- "proximo-distal subdivision of respiratory tract phenotype",
- "skeletal system",
- "Abnormality of the respiratory system",
- "response to stress phenotype",
"increased inflammatory response in bone element",
- "Abnormal cell morphology",
- "decreased number of platelet",
- "musculoskeletal system phenotype",
- "anatomical system",
- "thoracic segment of trunk",
+ "Abnormal inflammatory response",
"increased qualitatively inflammatory response",
- "non-connected functional system",
- "mesoderm-derived structure",
+ "response to stimulus",
+ "anatomical entity phenotype",
"Phenotypic abnormality",
- "anatomical structure physiology phenotype",
- "decreased number of material anatomical entity",
- "increased response to stimulus in bone element",
- "Abnormal bone marrow cell morphology",
- "decreased number of anatomical entity",
- "Abnormal leukocyte morphology",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "tissue",
- "organ",
- "root",
- "multicellular anatomical structure phenotype",
+ "immune system",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
+ "musculature of body",
+ "skin of body phenotype",
+ "organ system subdivision",
+ "organ part phenotype",
+ "serous sac",
+ "material anatomical entity physiology phenotype",
+ "skin of body",
+ "mixed endoderm/mesoderm-derived structure phenotype",
+ "defense response phenotype",
+ "multi-tissue structure phenotype",
+ "lateral structure phenotype",
+ "immune system phenotype",
+ "ectoderm-derived structure phenotype",
+ "musculature phenotype",
+ "anatomical structure",
+ "anatomical entity",
+ "response to stimulus phenotype",
+ "anatomical collection",
+ "increased inflammatory response",
+ "phenotypic effect",
+ "serous membrane phenotype",
+ "anatomical system physiology phenotype",
+ "Osteomyelitis",
+ "anatomical system",
+ "Recurrent lower respiratory tract infections",
+ "trunk",
"serotonin secreting cell",
- "hematopoietic cell",
- "hemolymphoid system",
+ "oxygen accumulating cell",
+ "disconnected anatomical group",
+ "Abnormality of the immune system",
+ "lung",
+ "pair of lungs",
+ "non-connected functional system",
+ "Eumetazoa",
+ "increased biological_process",
+ "Neoplasm by anatomical site",
+ "lateral structure",
+ "biological_process rate phenotype",
+ "integument",
+ "inflammatory response",
+ "Abnormality of the skeletal system",
"erythroid lineage cell",
- "respiratory system morphology phenotype",
- "Thrombocytopenia",
- "skeletal element",
- "Abnormal platelet morphology",
- "bone marrow",
- "Abnormal cellular immune system morphology",
- "taxon specific phenotype",
- "Abnormal immune system morphology",
- "Abnormality of multiple cell lineages in the bone marrow",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "defense response phenotype",
- "multicellular organism morphology phenotype",
- "subdivision of organism along main body axis",
- "material entity",
- "leukocyte",
- "organ part",
- "blood cell",
- "myeloid cell",
- "entity",
- "number of hematopoietic cell phenotype",
"platelet",
- "Abnormality of blood and blood-forming tissues",
- "erythrocyte",
- "bone cell",
- "respiration organ",
- "bone marrow cell",
- "decreased number of hematopoietic cell",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "hematopoietic system phenotype",
+ "organ system subdivision phenotype",
+ "musculoskeletal system physiology phenotype",
+ "continuant",
+ "subdivision of tube phenotype",
+ "increased response to stimulus in bone element",
+ "thoracic segment of trunk",
+ "multi-tissue structure",
+ "increased biological_process in bone element",
+ "musculature",
+ "immune system physiology phenotype",
+ "increased response to stress in bone element",
+ "phenotype",
+ "multicellular anatomical structure phenotype",
+ "anatomical structure phenotype",
+ "multicellular organism phenotype",
+ "anucleate cell",
+ "increased defense response in bone element",
"anatomical wall",
- "Pancytopenia",
- "leukocyte morphology phenotype",
- "Abnormal skeletal morphology",
- "Abnormal leukocyte count",
- "secretory cell",
- "motile cell",
- "cell phenotype",
- "nucleate cell",
- "eukaryotic cell",
- "hematopoietic system",
- "Abnormal platelet count"
+ "anatomical structure physiology phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "material anatomical entity phenotype"
],
"has_phenotype_count": 5,
"highlight": null,
"score": null
},
{
- "id": "MONDO:1011504",
+ "id": "MONDO:1011502",
"category": "biolink:Disease",
- "name": "Fanconi syndrome, horse",
+ "name": "Fanconi syndrome, cattle",
"full_name": null,
"deprecated": null,
- "description": "Fanconi syndrome that occurs in horse.",
- "xref": ["OMIA:000366-9796"],
+ "description": "Fanconi syndrome that occurs in cattle.",
+ "xref": ["OMIA:000366-9913"],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
@@ -6037,37 +5716,114 @@
"score": null
},
{
- "id": "MONDO:0060778",
+ "id": "MONDO:1011504",
"category": "biolink:Disease",
- "name": "adult Fanconi syndrome",
+ "name": "Fanconi syndrome, horse",
"full_name": null,
"deprecated": null,
- "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
- "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "description": "Fanconi syndrome that occurs in horse.",
+ "xref": ["OMIA:000366-9796"],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
- "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "synonym": null,
"uri": null,
"iri": null,
"namespace": "MONDO",
- "has_phenotype": ["HP:0003581"],
+ "has_phenotype": null,
"has_phenotype_label": null,
- "has_phenotype_closure": ["HP:0003581"],
+ "has_phenotype_closure": null,
"has_phenotype_closure_label": null,
- "has_phenotype_count": 1,
+ "has_phenotype_count": 0,
"highlight": null,
"score": null
},
{
- "id": "MONDO:1011502",
+ "id": "MONDO:0060779",
"category": "biolink:Disease",
- "name": "Fanconi syndrome, cattle",
+ "name": "acquired Fanconi syndrome",
"full_name": null,
"deprecated": null,
- "description": "Fanconi syndrome that occurs in cattle.",
- "xref": ["OMIA:000366-9913"],
+ "description": "Fanconi Syndrome caused by exposure to noxious agents.",
+ "xref": [
+ "MEDGEN:90966",
+ "NCIT:C78296",
+ "SCTID:236467001",
+ "UMLS:C0341702"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["acquired Fanconi syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0001083",
+ "category": "biolink:Disease",
+ "name": "Fanconi renotubular syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.",
+ "xref": [
+ "DOID:1062",
+ "GARD:9120",
+ "MEDGEN:4653",
+ "MESH:D005198",
+ "NANDO:2100027",
+ "NANDO:2200187",
+ "NCIT:C3034",
+ "SCTID:236466005",
+ "SCTID:40488004",
+ "UMLS:C0015624"
+ ],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": [
+ "De toni-Fanconi syndrome",
+ "De toni-debre-Fanconi syndrome",
+ "Fanconi syndrome",
+ "Fanconi's syndrome",
+ "Fanconi-de toni syndrome",
+ "Fanconi-de-toni syndrome",
+ "Lignac-Fanconi syndrome",
+ "adult Fanconi syndrome",
+ "congenital Fanconi syndrome",
+ "deToni Fanconi syndrome",
+ "infantile nephropathic cystinosis",
+ "toni-debre-Fanconi syndrome"
+ ],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:1011503",
+ "category": "biolink:Disease",
+ "name": "Fanconi syndrome, dog",
+ "full_name": null,
+ "deprecated": null,
+ "description": "Fanconi syndrome that occurs in dog.",
+ "xref": ["OMIA:000366-9615"],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
@@ -6084,6 +5840,42 @@
"highlight": null,
"score": null
},
+ {
+ "id": "MONDO:0060778",
+ "category": "biolink:Disease",
+ "name": "adult Fanconi syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.",
+ "xref": ["MEDGEN:137960", "NCIT:C4377", "UMLS:C0341703"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": ["HP:0003581"],
+ "has_phenotype_label": ["Adult onset"],
+ "has_phenotype_closure": [
+ "HP:0012823",
+ "HP:0031797",
+ "HP:0003674",
+ "HP:0003581",
+ "HP:0000001"
+ ],
+ "has_phenotype_closure_label": [
+ "All",
+ "Clinical course",
+ "Adult onset",
+ "Clinical modifier",
+ "Onset"
+ ],
+ "has_phenotype_count": 1,
+ "highlight": null,
+ "score": null
+ },
{
"id": "MONDO:0013247",
"category": "biolink:Disease",
@@ -6151,841 +5943,803 @@
"Renal insufficiency"
],
"has_phenotype_closure": [
- "HP:0000083",
+ "UPHENO:0004503",
+ "HP:0000002",
+ "CHEBI:33559",
+ "UBERON:0015212",
"CHEBI:33318",
- "UPHENO:0051712",
+ "CHEBI:33521",
+ "UPHENO:0005201",
+ "CHEBI:33250",
+ "GO:0040007",
"HP:0011280",
- "HP:0002653",
- "HP:0025142",
- "UPHENO:0080351",
- "UPHENO:0000543",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
+ "UPHENO:0068134",
+ "HP:0012212",
+ "HP:0012531",
"UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0049874",
+ "UPHENO:0080351",
"HP:0004322",
- "CHEBI:36080",
- "UPHENO:0068477",
- "UPHENO:0082943",
- "HP:0003165",
- "HP:0002157",
- "HP:0003117",
- "UPHENO:0003116",
- "PR:000064867",
- "UPHENO:0051612",
- "UBERON:0034923",
- "HP:0002152",
- "UPHENO:0051630",
- "PR:000013429",
- "CHEBI:33694",
- "UPHENO:0068068",
- "HP:0010876",
- "HP:0430071",
+ "UPHENO:0049874",
+ "UPHENO:0068971",
+ "UPHENO:0069062",
+ "UBERON:0015204",
+ "UPHENO:0081440",
+ "CHEBI:26191",
"HP:0033331",
- "UPHENO:0052038",
- "UBERON:0001977",
- "UPHENO:0068442",
- "UPHENO:0051648",
- "CHEBI:33695",
- "UPHENO:0068472",
+ "UPHENO:0002909",
+ "UPHENO:0082541",
+ "PR:000013429",
+ "UBERON:0000949",
"UBERON:0015203",
- "UPHENO:0068533",
+ "UPHENO:0051686",
+ "UPHENO:0068049",
+ "UPHENO:0003116",
+ "PR:000000001",
+ "HP:0003117",
+ "UPHENO:0066943",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "UPHENO:0066951",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
"CHEBI:35381",
- "CHEBI:22313",
- "CHEBI:33917",
+ "UPHENO:0081423",
"CHEBI:16646",
+ "HP:0002653",
+ "UPHENO:0082536",
"CHEBI:78616",
+ "HP:0003076",
+ "CHEBI:32988",
+ "UPHENO:0046344",
+ "HP:0000093",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "CHEBI:33256",
"CHEBI:33839",
"HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
- "HP:0000093",
- "CHEBI:37622",
- "GO:0008202",
- "GO:0006775",
- "UPHENO:0076293",
- "CHEBI:51958",
- "CHEBI:18059",
- "UPHENO:0000541",
- "CHEBI:26191",
+ "UPHENO:0068477",
+ "UPHENO:0002554",
+ "UBERON:0000064",
+ "UPHENO:0068565",
+ "UPHENO:0079534",
+ "HP:0100508",
+ "UPHENO:0066959",
+ "HP:0025142",
+ "UPHENO:0068251",
+ "UPHENO:0049873",
"CHEBI:35350",
- "UPHENO:0081423",
- "UPHENO:0050502",
- "GO:0006629",
- "UPHENO:0049627",
+ "UPHENO:0051628",
+ "UPHENO:0000541",
+ "UPHENO:0068442",
+ "CHEBI:51958",
+ "HP:0000114",
+ "UPHENO:0046291",
"UPHENO:0082539",
- "UPHENO:0068251",
- "UPHENO:0048763",
- "UPHENO:0078589",
- "GO:0040007",
"UPHENO:0049618",
+ "GO:0006775",
+ "CHEBI:33822",
+ "HP:0003111",
+ "UPHENO:0002246",
+ "UPHENO:0068068",
+ "CHEBI:33635",
+ "UPHENO:0002636",
+ "CHEBI:33832",
+ "UBERON:0002100",
+ "UPHENO:0078628",
"CHEBI:35788",
- "UPHENO:0075195",
- "CHEBI:47042",
"CHEBI:17823",
- "HP:0032245",
- "UPHENO:0068064",
- "CHEBI:33832",
- "CHEBI:33822",
- "HP:0031415",
- "UPHENO:0080643",
- "UPHENO:0089764",
"CHEBI:27300",
- "CHEBI:36853",
+ "UPHENO:0002832",
+ "GO:0008202",
+ "CHEBI:36963",
+ "CHEBI:47042",
"CHEBI:27136",
+ "UPHENO:0081424",
+ "CHEBI:36853",
+ "UPHENO:0002536",
+ "UBERON:0005172",
+ "CHEBI:35341",
+ "PR:000064867",
+ "UPHENO:0002311",
+ "UPHENO:0049723",
+ "GO:0006629",
+ "GO:1901615",
+ "UBERON:0000467",
+ "CHEBI:33582",
"GO:0044238",
- "GO:0044281",
- "UPHENO:0068047",
- "CHEBI:33674",
- "HP:0033354",
- "CHEBI:36963",
- "UBERON:0006555",
- "GO:0032501",
- "UPHENO:0068134",
- "UPHENO:0002754",
- "UBERON:0005173",
- "UBERON:0015212",
- "UPHENO:0002803",
- "UPHENO:0005201",
- "UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
- "UPHENO:0046291",
+ "UBERON:8450002",
+ "UPHENO:0002385",
+ "UBERON:0001977",
+ "UPHENO:0076293",
+ "HP:0025745",
+ "CHEBI:33285",
+ "CHEBI:35352",
+ "UBERON:0000062",
+ "UPHENO:0052038",
+ "GO:0042359",
"HP:0010935",
- "UBERON:0004122",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UPHENO:0082536",
- "UBERON:0013701",
- "UPHENO:0002360",
- "CHEBI:73558",
+ "CHEBI:35605",
+ "UPHENO:0089294",
+ "UPHENO:0068169",
+ "CHEBI:72695",
+ "PR:000018263",
+ "CHEBI:33608",
+ "UPHENO:0002568",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:33575",
+ "UPHENO:0068491",
+ "HP:0002909",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "CHEBI:22984",
+ "UPHENO:0068144",
+ "UPHENO:0068047",
+ "UPHENO:0002422",
+ "CHEBI:33595",
+ "UPHENO:0077817",
+ "CHEBI:36587",
+ "UPHENO:0046383",
"UPHENO:0046286",
- "UPHENO:0004503",
+ "UPHENO:0066946",
+ "UPHENO:0084653",
+ "HP:0000938",
+ "HP:0001507",
+ "UPHENO:0002926",
"HP:0002748",
- "UPHENO:0002909",
- "UBERON:0005172",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0081547",
- "UPHENO:0050116",
- "UPHENO:0002832",
+ "HP:0003110",
+ "UBERON:0000174",
+ "HP:0032245",
+ "HP:0000117",
+ "GO:0001503",
+ "HP:0003330",
"HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UBERON:0000463",
- "UBERON:0000061",
- "CHEBI:33250",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:37577",
+ "HP:0004349",
+ "HP:0011842",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "HP:0100511",
+ "UPHENO:0082834",
+ "UPHENO:0002346",
+ "HP:0011849",
+ "UPHENO:0002559",
+ "UPHENO:0066913",
+ "UPHENO:0080352",
+ "HP:0000079",
+ "UBERON:0000383",
+ "UPHENO:0002377",
+ "UPHENO:0051709",
+ "UPHENO:0002816",
+ "CHEBI:50047",
"HP:0000924",
- "CHEBI:33635",
- "HP:0033127",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0000118",
- "UPHENO:0003088",
- "UPHENO:0049723",
+ "UPHENO:0076286",
+ "HP:0003165",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0002757",
+ "UPHENO:0004505",
"UBERON:0001434",
- "UPHENO:0078628",
- "UPHENO:0002442",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UPHENO:0046281",
- "UBERON:0001062",
- "HP:0001871",
- "UBERON:0000178",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "HP:0100508",
- "CHEBI:33675",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "CHEBI:24431",
- "GO:0042592",
- "UPHENO:0002559",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0075902",
- "CHEBI:23367",
- "HP:0012213",
- "UBERON:0002100",
- "UPHENO:0082534",
+ "UBERON:0004765",
+ "UPHENO:0002531",
+ "HP:0011843",
+ "UPHENO:0081544",
+ "UPHENO:0003432",
+ "UBERON:0001474",
+ "UBERON:0000025",
+ "UBERON:0003103",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UPHENO:0003941",
+ "GO:0044281",
+ "UPHENO:0003093",
+ "HP:0100529",
"HP:0000119",
- "UBERON:0015204",
- "UPHENO:0046284",
- "UPHENO:0002554",
- "UPHENO:0034351",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "UPHENO:0082541",
- "HP:0000114",
+ "UPHENO:0081581",
"BFO:0000001",
- "UBERON:0001231",
- "UPHENO:0089294",
+ "UBERON:0001008",
+ "UBERON:0000463",
+ "UPHENO:0000543",
+ "UPHENO:0003413",
"UPHENO:0002248",
- "HP:0100511",
- "UPHENO:0003430",
"BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:33595",
- "CHEBI:33302",
- "BFO:0000004",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UBERON:0000025",
- "HP:0031980",
- "GO:0008152",
+ "UBERON:0002113",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "CHEBI:15841",
+ "UPHENO:0066960",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UPHENO:0005092",
+ "UPHENO:0002252",
+ "UBERON:0005173",
+ "UBERON:0000475",
+ "UPHENO:0068472",
+ "CHEBI:37622",
+ "UBERON:0001969",
+ "UBERON:0000179",
+ "UPHENO:0049904",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UBERON:0034923",
"UPHENO:0002427",
- "CHEBI:51143",
- "UPHENO:0046344",
- "UPHENO:0004505",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UPHENO:0002536",
- "GO:0001503",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "CHEBI:33579",
- "UBERON:0000467",
- "BFO:0000003",
- "UBERON:0000174",
- "UBERON:0001474",
- "UBERON:0010000",
- "CHEBI:36360",
- "HP:0000001",
- "UPHENO:0084654",
- "UBERON:0013702",
+ "UPHENO:0003088",
+ "CHEBI:37577",
+ "UPHENO:0002386",
+ "HP:0000077",
"UPHENO:0068054",
- "HP:0002757",
- "UPHENO:0068049",
- "UPHENO:0051960",
- "HP:0003111",
- "GO:0042359",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UBERON:0000949",
- "UBERON:0000064",
- "GO:1901615",
- "UPHENO:0002926",
- "UPHENO:0066939",
+ "UPHENO:0046281",
+ "HP:0012599",
"CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0046284",
+ "UPHENO:0002803",
+ "UBERON:0001088",
+ "UPHENO:0002530",
+ "HP:0002659",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0003025",
+ "UPHENO:0051900",
+ "UPHENO:0002963",
+ "UPHENO:0066903",
+ "UPHENO:0066921",
+ "UPHENO:0002526",
+ "UPHENO:0003381",
"UPHENO:0002267",
+ "GO:0009987",
+ "UBERON:0007684",
+ "HP:0003355",
"UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0002568",
- "CHEBI:24870",
- "CHEBI:26082",
- "UPHENO:0077817",
- "UBERON:0004111",
- "UBERON:0005177",
- "GO:0008150",
- "UPHENO:0069266",
- "HP:0011842",
- "UPHENO:0068491",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
- "HP:0032180",
- "HP:0003110",
- "UPHENO:0066739",
+ "UBERON:0000916",
+ "UBERON:0004122",
+ "UPHENO:0089764",
"UBERON:0009773",
- "UPHENO:0081544",
- "UBERON:0002113",
- "CHEBI:33575",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0011143",
+ "UPHENO:0003430",
+ "UPHENO:0002308",
+ "UPHENO:3000004",
+ "UBERON:0004120",
+ "UBERON:0001231",
"CHEBI:24651",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UPHENO:0051628",
- "UBERON:0011676",
- "HP:0012212",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "UBERON:0000483",
- "UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
+ "HP:0004348",
+ "CHEBI:36360",
+ "CHEBI:33302",
+ "UBERON:0013701",
+ "UPHENO:0068110",
+ "UPHENO:0002287",
+ "HP:0033127",
"CHEBI:16541",
- "UPHENO:0004791",
- "UPHENO:0003941",
- "HP:0033405",
- "UPHENO:0005285",
- "UPHENO:0051739",
- "CHEBI:22984",
+ "UBERON:0003914",
+ "HP:0031415",
+ "CHEBI:24833",
+ "UPHENO:0084654",
+ "UPHENO:0051712",
+ "HP:0032180",
+ "UPHENO:0051648",
+ "UPHENO:0089759",
"HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "HP:0002150",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "CHEBI:73558",
+ "UPHENO:0002668",
+ "UPHENO:0050502",
+ "CHEBI:64709",
+ "GO:0042592",
+ "CHEBI:26020",
+ "UBERON:0000489",
"BFO:0000015",
- "HP:0000938",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "HP:0100530",
- "UPHENO:0002385",
- "HP:0012531",
- "CHEBI:36587",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0079534",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33521",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "UPHENO:0076286",
+ "CHEBI:24867",
+ "UPHENO:0049627",
+ "UPHENO:0001002",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "UBERON:0000178",
+ "CHEBI:23367",
"GO:0006766",
- "CHEBI:35352",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UPHENO:0046362",
- "UBERON:0000479",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
- "HP:0004364",
- "UPHENO:0048711",
- "CHEBI:35605",
- "HP:0011843",
- "UPHENO:0077826",
- "HP:0000079",
- "UPHENO:0024906",
- "UPHENO:0002269",
- "UPHENO:0002426",
- "CHEBI:35341",
- "UBERON:8450002",
- "UBERON:0000383",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "PATO:0000001",
- "UBERON:0001285",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0048763",
+ "HP:0012591",
+ "UPHENO:0002525",
+ "CHEBI:33579",
"HP:0000818",
+ "CHEBI:15693",
+ "UBERON:0013702",
+ "UPHENO:0024906",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0051630",
+ "UPHENO:0076692",
+ "UPHENO:0075902",
+ "UBERON:0009569",
+ "CHEBI:36357",
+ "UPHENO:0002360",
+ "UPHENO:0068064",
+ "GO:0008150",
+ "UPHENO:0050116",
+ "HP:0001939",
+ "GO:0008152",
+ "CHEBI:36586",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "UPHENO:0002532",
+ "UBERON:0004819",
+ "BFO:0000002",
+ "UPHENO:0001001",
"UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
+ "UBERON:0002417",
+ "HP:0012213",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
"UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0001002",
- "HP:0002659",
- "UPHENO:0002532",
- "UPHENO:0081440",
+ "UPHENO:0001003",
+ "UPHENO:0076285",
+ "UPHENO:0002949",
+ "CHEBI:33241",
+ "UPHENO:0066964",
"UPHENO:0002964",
- "UPHENO:0084653",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
- "UPHENO:0082835",
- "HP:0003330",
- "PR:000018263",
- "HP:0000117",
- "UPHENO:0066925",
- "HP:0012591",
- "HP:0012599",
- "UBERON:0001088",
- "CHEBI:36962",
- "CHEBI:36359",
- "HP:0003355",
- "CHEBI:33559",
- "CHEBI:50047",
- "CHEBI:36586",
- "HP:0002909",
- "CHEBI:25806",
- "UPHENO:0068144",
- "CHEBI:24833",
- "CHEBI:50860",
- "UPHENO:0089759",
- "UPHENO:0049873",
- "UPHENO:0066960",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "UPHENO:0002210",
+ "UPHENO:0004791",
+ "CHEBI:18059",
+ "BFO:0000004",
+ "UPHENO:0002870",
+ "BFO:0000003",
+ "HP:0002148",
+ "UPHENO:0051960",
+ "CHEBI:26082",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0002442",
+ "UPHENO:0004418",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0077826",
+ "UBERON:0006555",
+ "UBERON:0000468",
+ "UBERON:0010000",
+ "UPHENO:0080643",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0069327",
+ "UPHENO:0082534",
+ "UPHENO:0048711",
+ "UBERON:0004211",
+ "HP:0002150",
+ "UBERON:0002204",
+ "UPHENO:0066950",
"CHEBI:33709",
- "CHEBI:33582",
- "CHEBI:33608",
- "HP:6000531",
- "CHEBI:72695",
- "HP:0040156",
- "CHEBI:33256",
- "HP:0001992",
- "UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
- "CHEBI:64709"
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "HP:0000083",
+ "CHEBI:22313",
+ "UPHENO:0078589",
+ "HP:0100530",
+ "UBERON:0011216",
+ "UPHENO:0075159",
+ "UBERON:0001285"
],
"has_phenotype_closure_label": [
"Renal insufficiency",
- "Hypercalciuria",
+ "abdomen element",
"increased level of calcium atom in urine",
- "s-block element atom",
- "urine calcium atom level phenotype",
- "calcium atom",
- "atom",
+ "organic amino compound",
"calcium atom level phenotype",
- "Abnormality of urine calcium concentration",
- "Abnormal glomerular filtration rate",
+ "process",
+ "urine calcium atom level phenotype",
+ "alkaline earth metal atom",
+ "main group element atom",
"Decreased glomerular filtration rate",
- "Bone pain",
- "Pain",
"Constitutional symptom",
+ "anatomical entity height phenotype",
+ "oxygen molecular entity",
+ "delayed growth",
"Short stature",
- "size of anatomical entity phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "Abnormality of body height",
+ "epithelium",
+ "decreased size of the multicellular anatomical structure",
"decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "growth phenotype",
"delayed biological_process",
+ "anatomical system physiology phenotype",
+ "kidney epithelium",
+ "trunk phenotype",
+ "Pain",
+ "decreased size of the material anatomical entity",
+ "phosphate level phenotype",
"Growth abnormality",
- "Growth delay",
- "decreased size of the multicellular organism",
- "blood protein polypeptide chain level phenotype",
- "blood organic amino compound level phenotype",
- "non-connected functional system",
- "increased level of chemical entity in blood serum",
- "protein level phenotype",
- "Abnormal circulating hormone concentration",
- "Hyperproteinemia",
- "Abnormal circulating organic compound concentration",
- "increased level of parathyroid hormone in blood",
- "Abnormal circulating protein concentration",
- "role blood serum level phenotype",
- "Abnormal circulating organic amino compound concentration",
- "increased blood serum role level",
- "Abnormal circulating nitrogen compound concentration",
- "blood serum chemical entity level phenotype",
- "increased blood serum base level",
- "endocrine system",
"blood serum",
+ "blood plasma",
"glandular system",
- "protein-containing molecular entity",
- "Acute phase response",
+ "decreased functionality of the anatomical structure",
+ "increased level of chemical entity in blood serum",
+ "Growth delay",
+ "bone element phenotype",
"amino acid chain",
- "disconnected anatomical group",
+ "increased blood serum role level",
+ "main body axis",
+ "protein-containing molecular entity",
+ "increased level of chemical entity in blood plasma",
"blood plasma chemical entity level phenotype",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormality of the endocrine system",
+ "increased level of parathyroid hormone in blood",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "Acute phase response",
+ "increased bodily fluid base level",
+ "non-connected functional system",
+ "increased level of parathyroid hormone in blood serum",
+ "haemolymphatic fluid phenotype",
+ "parathyroid hormone",
+ "organic polycyclic compound",
+ "cavitated compound organ phenotype",
+ "carbohydrate",
"Abnormal urinary organic compound level",
- "increased level of monosaccharide in urine",
- "alkaline earth metal atom",
- "carbohydrates and carbohydrate derivatives",
- "biomacromolecule",
+ "Proteinuria",
+ "s-block element atom",
+ "Aminoaciduria",
+ "s-block molecular entity",
+ "Abnormal urine protein level",
+ "increased level of protein polypeptide chain in urine",
"macromolecule",
+ "primary metabolic process",
+ "small molecule metabolic process",
+ "homeostatic process",
"polypeptide",
+ "role bodily fluid level phenotype",
+ "lipid metabolic process phenotype",
+ "increased level of monosaccharide in urine",
+ "increased blood serum base level",
+ "seco-steroid",
+ "calcitriol",
+ "vitamin D",
+ "organ part",
+ "hydroxycalciol",
+ "ossification",
"protein polypeptide chain",
+ "endocrine system phenotype",
+ "triol",
+ "cellular process",
"metabolic process phenotype",
- "small molecule metabolic process phenotype",
- "small molecule metabolic process",
- "hormone blood level phenotype",
- "size of multicellular organism phenotype",
- "increased level of chemical entity in blood plasma",
- "steroid metabolic process",
- "fat-soluble vitamin metabolic process",
+ "decreased size of the multicellular organism",
+ "vitamin D metabolic process phenotype",
+ "Renal tubular dysfunction",
+ "vitamin metabolic process phenotype",
+ "material anatomical entity phenotype",
"increased bodily fluid role level",
- "D3 vitamins",
- "increased level of lipid in blood",
- "organic hydroxy compound metabolic process phenotype",
- "organic polycyclic compound",
+ "urine glucose level phenotype",
+ "organic hydroxy compound",
+ "Osteomalacia",
+ "upper urinary tract phenotype",
+ "polycyclic compound",
+ "organic cyclic compound",
"polyol",
- "hydroxy steroid",
- "increased level of chemical entity in bodily fluid",
- "increased blood role level",
- "primary amide",
- "vitamin D level phenotype",
- "increased level of chemical entity in blood",
- "lipid metabolic process",
- "vitamin D metabolic process",
- "increased level of lipid",
"glucose",
- "seco-steroid",
- "vitamin D",
- "hydroxycalciol",
- "vitamin D metabolic process phenotype",
- "hydroxy seco-steroid",
+ "hormone blood level phenotype",
+ "size of multicellular organism phenotype",
+ "High serum calcitriol",
+ "compound organ physiology phenotype",
+ "vitamin metabolic process",
+ "steroid metabolic process",
+ "Abnormal blood phosphate concentration",
"cyclic compound",
- "increased level of nitrogen molecular entity in blood",
- "Abnormal metabolism",
- "increased level of vitamin D",
"blood organic molecular entity level phenotype",
- "polycyclic compound",
+ "Abnormal metabolism",
+ "increased level of calcitriol in blood",
+ "organ",
+ "blood organic amino compound level phenotype",
+ "vitamin D level phenotype",
+ "steroid metabolic process phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
"increased level of chemical entity",
- "Aciduria",
- "increased level of parathyroid hormone in blood serum",
- "Abnormal urine pH",
- "role urine level phenotype",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
- "organ phenotype",
- "renal system",
- "renal system physiology phenotype",
- "renal system phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "excretory tube",
- "multicellular anatomical structure physiology phenotype",
- "blood plasma",
- "genitourinary system phenotype",
- "tube phenotype",
- "organic hydroxy compound metabolic process",
+ "increased level of organic acid in urine",
+ "Abnormality of the urinary system physiology",
+ "increased level of nitrogen molecular entity in blood",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "blood serum chemical entity level phenotype",
+ "growth phenotype",
"Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "kidney epithelium phenotype",
- "subdivision of organism along main body axis phenotype",
- "mesoderm-derived structure phenotype",
- "Abnormality of vitamin metabolism",
- "abdominal segment element physiology phenotype",
- "abdominal segment element",
- "kidney phenotype",
- "kidney",
+ "oxoacid",
+ "steroid",
+ "organic oxo compound",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "renal tubule phenotype",
+ "nitrogen molecular entity level phenotype",
+ "Generalized aminoaciduria",
+ "nephron epithelium phenotype",
+ "molecule",
+ "chalcogen molecular entity",
+ "hydroxides",
+ "amino acid level phenotype",
+ "role blood level phenotype",
+ "primary amide",
+ "epithelium physiology phenotype",
+ "Osteopenia",
+ "Rickets",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
"amino acid",
- "blood lipid level phenotype",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "primary metabolic process phenotype",
- "trunk phenotype",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "tissue",
+ "Abnormal urinary electrolyte concentration",
+ "Renal phosphate wasting",
"blood nitrogen molecular entity level phenotype",
- "pnictogen molecular entity",
- "decreased functionality of the kidney epithelium",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
+ "anatomical entity morphology phenotype",
+ "Abnormal bone structure",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "metal atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "Decreased anatomical entity mass density",
+ "body proper",
+ "lipid level phenotype",
+ "Abnormal bone ossification",
+ "calcium atom",
+ "homeostatic process phenotype",
+ "bone element",
+ "increased urine role level",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "musculoskeletal system",
+ "carboxamide",
+ "blood",
+ "vitamin D metabolic process",
+ "decreased functionality of the anatomical conduit",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "increased level of lipid",
+ "Abnormality of the skeletal system",
+ "genitourinary system phenotype",
+ "multicellular anatomical structure",
+ "Recurrent fractures",
+ "trunk",
+ "Abnormal musculoskeletal physiology",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "Abnormal circulating hormone concentration",
+ "decreased functionality of the renal tubule",
+ "skeletal system",
+ "musculature of body phenotype",
+ "Elevated circulating parathyroid hormone level",
+ "abdominal segment element phenotype",
+ "musculature of body",
+ "multicellular organism height phenotype",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "excretory tube physiology phenotype",
+ "renal tubule",
"decreased level of phosphate in blood",
+ "Proximal tubulopathy",
"Abnormality of vitamin D metabolism",
- "metabolic process",
- "excretory tube physiology phenotype",
- "Abnormal circulating calcium-phosphate regulating hormone concentration",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "nephron phenotype",
- "organic hydroxy compound",
- "nitrogen molecular entity",
- "Abnormal urine amino acid level",
- "vitamin metabolic process phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "occurrent",
+ "decreased functionality of the nephron tubule",
"nephron tubule",
- "organism substance",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "phosphate",
- "blood parathyroid hormone level phenotype",
- "abdominal segment element phenotype",
+ "epithelial tube",
"molecular entity",
- "multicellular organism",
- "process",
- "epithelium",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "Recurrent fractures",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "increased level of protein",
- "Abnormality of the genitourinary system",
- "Generalized aminoaciduria",
- "compound organ physiology phenotype",
- "main group element atom",
- "Decreased anatomical entity mass density",
- "delayed growth",
- "Decreased bone element mass density",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "organic oxo compound",
- "decreased level of chemical entity",
- "main group molecular entity",
- "abdomen element",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "genitourinary system",
+ "carbon group molecular entity",
+ "metabolic process",
"material entity",
- "subdivision of organism along main body axis",
- "homeostatic process",
- "Abnormal bone ossification",
- "primary metabolic process",
- "anatomical structure",
+ "epithelial tube physiology phenotype",
+ "blood parathyroid hormone level phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "compound organ phenotype",
+ "role urine level phenotype",
"organ physiology phenotype",
- "elemental molecular entity",
- "carbon oxoacid",
- "Abnormality of blood and blood-forming tissues",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "carbohydrates and carbohydrate derivatives",
+ "trunk region element",
+ "Abnormality of vitamin metabolism",
+ "phosphate",
+ "Abnormality of the urinary system",
+ "organism subdivision",
"organism substance phenotype",
- "endocrine system phenotype",
- "information biomacromolecule",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organ part",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "multicellular organism chemical entity level phenotype",
- "increased level of calcitriol in blood",
- "cavitated compound organ physiology phenotype",
+ "organ system subdivision",
+ "blood lipid level phenotype",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "Abnormality of urine calcium concentration",
+ "organic hydroxy compound metabolic process phenotype",
+ "Abnormal glomerular filtration rate",
+ "lipid metabolic process",
+ "renal system",
+ "hydroxy steroid",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "nephron epithelium",
+ "excretory system",
"multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "growth",
- "lateral structure physiology phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
"decreased level of chemical entity in blood",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "haemolymphatic fluid phenotype",
+ "organ part phenotype",
+ "Abnormal urine phosphate concentration",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "kidney physiology phenotype",
+ "lateral structure physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Glycosuria",
+ "ion",
+ "abdominal segment element physiology phenotype",
+ "Bone pain",
+ "protein",
+ "nephron",
+ "Increased susceptibility to fractures",
+ "skeletal system phenotype",
+ "anatomical entity physiology phenotype",
"peptide",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
- "lipid metabolic process phenotype",
"cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "blood oxygen molecular entity level phenotype",
+ "abdominal segment element",
+ "skeletal element phenotype",
+ "kidney phenotype",
"decreased functionality of the epithelial tube",
- "decreased functionality of the renal tubule",
- "anatomical entity phenotype",
- "chemical entity level phenotype",
- "anatomical system physiology phenotype",
- "increased level of protein in blood",
- "decreased functionality of the nephron tubule",
- "Increased susceptibility to fractures",
- "vitamin metabolic process",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal renal physiology",
- "musculoskeletal system",
- "lipid level phenotype",
- "chalcogen molecular entity",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
+ "nephron tubule phenotype",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "All",
+ "trunk region element phenotype",
+ "organism subdivision phenotype",
+ "tissue",
"musculoskeletal system phenotype",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "specifically dependent continuant",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "biological_process",
- "anatomical system",
- "quality",
- "Osteomalacia",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "steroid metabolic process phenotype",
- "material anatomical entity",
+ "decreased height of the anatomical entity",
+ "increased blood role level",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "multicellular organism",
+ "lateral structure phenotype",
+ "increased level of chemical entity in blood",
+ "decreased functionality of the excretory tube",
+ "tube",
+ "aldohexose",
+ "D3 vitamins",
+ "Abnormality of urine homeostasis",
+ "lipid",
+ "tissue phenotype",
+ "musculature",
+ "monosaccharide",
"bodily fluid phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "Elevated circulating parathyroid hormone level",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "small molecule metabolic process phenotype",
+ "renal system physiology phenotype",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "increased level of lipid in blood",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "decreased functionality of the epithelium",
+ "endocrine system",
+ "entity",
+ "hydroxy seco-steroid",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
"Abnormal circulating metabolite concentration",
+ "primary metabolic process phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
"independent continuant",
- "organ",
- "renal tubule phenotype",
- "entity",
- "body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "parathyroid hormone",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "Azotemia",
- "multicellular anatomical structure",
- "blood",
- "material anatomical entity phenotype",
- "nephron",
- "anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
+ "carboxylic acid",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "Abnormality of the endocrine system",
+ "continuant",
+ "increased level of glucose in urine",
"renal/urinary system phenotype",
- "triol",
- "trunk region element physiology phenotype",
- "lipid",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "hematopoietic system phenotype",
+ "blood phosphate level phenotype",
+ "mesoderm-derived structure",
+ "multicellular organism phenotype",
+ "blood monoatomic ion level phenotype",
+ "fat-soluble vitamin metabolic process",
+ "occurrent",
+ "Hypercalciuria",
+ "organic hydroxy compound metabolic process",
+ "organ phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
"musculoskeletal system physiology phenotype",
- "anatomical entity physiology phenotype",
- "Proximal tubulopathy",
- "tube",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "urine phosphate level phenotype",
- "main body axis",
- "musculature",
- "steroid",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "excretory tube",
+ "increased level of vitamin D",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "Abnormal circulating calcium-phosphate regulating hormone concentration",
+ "Reduced bone mineral density",
+ "size of anatomical entity phenotype",
+ "haemolymphatic fluid",
+ "abdominal segment of trunk",
+ "monoatomic entity",
"organonitrogen compound",
- "metal atom",
- "organochalcogen compound",
- "subdivision of trunk",
- "calcitriol",
- "urine chemical entity level phenotype",
- "carbonyl compound",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
+ "subdivision of organism along main body axis",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "Abnormality of the kidney",
+ "phosphorus oxoacids and derivatives",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "Decreased bone element mass density",
"musculature phenotype",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "organic cyclic compound",
+ "decreased functionality of the tissue",
+ "blood oxygen molecular entity level phenotype",
+ "anatomical structure",
"decreased functionality of the anatomical entity",
- "organ part phenotype",
"anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "role bodily fluid level phenotype",
- "decreased functionality of the nephron epithelium",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "hydrogen molecular entity",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "trunk region element",
- "increased level of carboxylic acid in urine",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "abdominal segment of trunk",
- "excreta",
- "epithelium physiology phenotype",
+ "phosphorus oxoacid derivative",
+ "atom",
+ "excretory tube phenotype",
+ "anatomical system phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "subdivision of trunk",
+ "hemolymphoid system",
"decreased functionality of the material anatomical entity",
- "increased level of amino acid in urine",
- "musculature of body phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal musculoskeletal physiology",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "carbohydrate",
- "skeletal system",
- "bone element phenotype",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "increased bodily fluid base level",
- "skeletal system morphology phenotype",
- "Abnormal skeletal morphology",
+ "epithelial tube phenotype",
"blood phenotype",
- "multicellular organismal process",
- "oxoacid",
- "ossification",
- "Renal phosphate wasting",
- "urine",
- "Abnormal urine phosphate concentration",
- "continuant",
- "Osteopenia",
- "organic molecular entity",
- "organic amino compound",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "hydroxides",
- "anatomical system phenotype",
- "organooxygen compound",
- "carboxylic acid",
- "increased level of organic acid in urine",
- "Abnormal blood ion concentration",
- "nitrogen molecular entity level phenotype",
- "Elevated urinary carboxylic acid",
- "amino acid level phenotype",
- "heteroorganic entity",
- "organic acid",
- "High serum calcitriol",
+ "multicellular organism chemical entity level phenotype",
+ "compound organ",
"urine amino acid level phenotype",
- "polyatomic entity",
- "oxygen molecular entity",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "p-block molecular entity",
+ "phosphorus molecular entity",
+ "role blood serum level phenotype",
+ "phenotype",
"Abnormal urine metabolite level"
],
"has_phenotype_count": 17,
@@ -6993,2686 +6747,2637 @@
"score": null
},
{
- "id": "MONDO:0014275",
+ "id": "MONDO:0030056",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 3",
+ "name": "Fanconi renotubular syndrome 5",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
+ "description": null,
"xref": [
- "DOID:0080759",
- "GARD:15991",
- "MEDGEN:816430",
- "OMIM:615605",
- "UMLS:C3810100"
+ "DOID:0080761",
+ "GARD:16392",
+ "MEDGEN:1711127",
+ "OMIM:618913",
+ "UMLS:C5394473"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "EHHADH Fanconi syndrome",
- "FRTS3",
- "Fanconi renotubular syndrome 3",
- "Fanconi renotubular syndrome type 3",
- "Fanconi syndrome caused by mutation in EHHADH"
+ "FANCONI RENOTUBULAR SYNDROME 5",
+ "FRTS5",
+ "Fanconi Renotubular Syndrome, Acadian Variant",
+ "Fanconi renotubular syndrome 5"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0003259",
- "HP:0001942",
- "HP:0001510",
- "HP:0003109",
- "HP:0002748",
- "HP:0002979",
+ "HP:0002148",
+ "HP:0002206",
+ "HP:0004912",
+ "HP:0002857",
+ "HP:0004918",
+ "HP:0045051",
+ "HP:0000093",
"HP:0003076",
- "HP:0000083",
- "HP:0004322",
+ "HP:0002097",
"HP:0003355",
- "HP:0003126"
+ "HP:0005576",
+ "HP:0003774",
+ "HP:0000822",
+ "HP:0030078"
],
"has_phenotype_label": [
- "Elevated circulating creatinine concentration",
- "Metabolic acidosis",
- "Growth delay",
- "Hyperphosphaturia",
- "Rickets",
- "Bowing of the legs",
+ "Hypophosphatemia",
+ "Pulmonary fibrosis",
+ "Hypophosphatemic rickets",
+ "Genu valgum",
+ "Hyperchloremic metabolic acidosis",
+ "Decreased DLCO",
+ "Proteinuria",
"Glycosuria",
- "Renal insufficiency",
- "Short stature",
+ "Emphysema",
"Aminoaciduria",
- "Low-molecular-weight proteinuria"
+ "Tubulointerstitial fibrosis",
+ "Stage 5 chronic kidney disease",
+ "Hypertension",
+ "Lung adenocarcinoma"
],
"has_phenotype_closure": [
- "CHEBI:33839",
- "HP:0020129",
- "CHEBI:16670",
- "CHEBI:16541",
- "HP:0003126",
- "CHEBI:33674",
- "HP:0025745",
- "CHEBI:36586",
- "CHEBI:33608",
- "CHEBI:24651",
- "HP:0031980",
- "CHEBI:33709",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
- "CHEBI:50047",
- "UPHENO:0046286",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0069062",
- "HP:0000002",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0075195",
- "HP:0004322",
- "UPHENO:0002426",
- "UBERON:0005172",
- "UBERON:0005177",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
+ "HP:0100526",
+ "HP:0002664",
+ "HP:0100606",
+ "HP:0030358",
+ "UBERON:0000055",
+ "UBERON:0001981",
+ "UBERON:0034923",
+ "HP:0001626",
+ "UPHENO:0002406",
+ "HP:0011025",
+ "UBERON:0004535",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0032263",
"UPHENO:0002360",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "HP:0012211",
"HP:0000083",
- "UBERON:0013702",
- "UBERON:0011676",
- "UPHENO:0003025",
+ "UPHENO:0002377",
+ "HP:0012622",
+ "UPHENO:0004791",
+ "UPHENO:0003941",
+ "HP:0005576",
+ "UBERON:0006555",
+ "UBERON:0005173",
+ "UPHENO:0005141",
+ "HP:0000091",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "HP:0001969",
+ "UPHENO:0003430",
"UPHENO:0003093",
- "UPHENO:0003413",
- "UPHENO:0002803",
- "UPHENO:0003088",
+ "UBERON:0009773",
+ "UBERON:0007684",
+ "UBERON:0004211",
+ "UBERON:0004122",
"UBERON:0000916",
- "UBERON:0002100",
- "UBERON:0002417",
- "UPHENO:0002246",
- "UPHENO:0002377",
- "UPHENO:0003094",
+ "HP:0002814",
+ "UBERON:0011143",
+ "UPHENO:0003086",
+ "UPHENO:0076756",
+ "UBERON:0001285",
"UPHENO:0002909",
- "HP:0033354",
- "UPHENO:0068054",
- "UBERON:0002113",
- "UPHENO:0081544",
+ "UBERON:0004819",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UPHENO:0005285",
+ "HP:0025745",
+ "HP:0010935",
+ "CHEBI:35605",
+ "UPHENO:0049587",
+ "HP:0003355",
+ "UPHENO:0068169",
+ "UBERON:0000170",
+ "UPHENO:0087427",
+ "CHEBI:33608",
+ "CHEBI:25367",
+ "UPHENO:0068144",
+ "UBERON:0010740",
+ "UPHENO:0046286",
+ "UBERON:0011582",
+ "CHEBI:33575",
+ "UPHENO:0075945",
+ "MPATH:597",
+ "UPHENO:0005214",
+ "MPATH:596",
+ "MPATH:25",
+ "UPHENO:0031123",
+ "MPATH:1000",
+ "UPHENO:0051635",
+ "UBERON:0013702",
+ "HP:0002097",
+ "HP:6000531",
+ "CHEBI:17234",
"CHEBI:18133",
- "CHEBI:15693",
- "UPHENO:0089294",
+ "UBERON:0010538",
"CHEBI:16646",
"CHEBI:78616",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0002585",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UBERON:0005055",
- "UPHENO:0081424",
- "UBERON:0010740",
- "UBERON:0004709",
- "UBERON:0000475",
- "UPHENO:0069254",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0086780",
- "HP:0040064",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0011314",
- "UPHENO:0084763",
- "UPHENO:0068049",
- "UBERON:0002103",
- "UPHENO:0002536",
- "GO:0001503",
- "UPHENO:0049874",
- "UPHENO:0001002",
- "UBERON:0002513",
- "GO:0040007",
- "HP:0001942",
- "UPHENO:0002944",
- "UPHENO:0081547",
- "UPHENO:0002832",
- "CHEBI:25367",
- "UPHENO:0002530",
- "HP:0000118",
- "CHEBI:38101",
- "UBERON:0000467",
- "BFO:0000003",
- "HP:0001871",
- "UPHENO:0089764",
- "CHEBI:64709",
- "CHEBI:25693",
- "HP:6000531",
- "CHEBI:72695",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0003050",
- "UPHENO:0002963",
- "UBERON:0004122",
- "HP:0002157",
- "CHEBI:35605",
- "HP:0004364",
- "UPHENO:0081423",
- "UBERON:0015061",
+ "HP:0030078",
+ "HP:0003076",
+ "CHEBI:33285",
+ "HP:0045051",
"CHEBI:36963",
- "CHEBI:26020",
- "UBERON:0000179",
- "UPHENO:0002559",
- "CHEBI:33670",
- "UPHENO:0031339",
- "CHEBI:24532",
- "UBERON:0000061",
- "UBERON:0000463",
+ "HP:0100529",
+ "HP:0000119",
"UPHENO:0051686",
- "CHEBI:32988",
- "UPHENO:0002983",
- "CHEBI:16737",
- "UBERON:0001062",
- "UPHENO:0002554",
- "UPHENO:0002422",
- "UPHENO:0079534",
- "UBERON:0013701",
- "UPHENO:0082536",
- "BFO:0000004",
- "UBERON:0000468",
+ "UPHENO:0089294",
+ "UBERON:0004375",
+ "HP:0003110",
+ "HP:0000093",
+ "UPHENO:0068491",
+ "MPATH:0",
+ "UBERON:0000174",
+ "CHEBI:50860",
+ "UPHENO:0031276",
+ "CHEBI:25806",
+ "UBERON:0003914",
+ "HP:0002813",
+ "CHEBI:16541",
+ "UPHENO:0002976",
+ "CHEBI:16670",
+ "UBERON:0000072",
+ "UPHENO:3000004",
+ "HP:0000822",
+ "UBERON:0001465",
+ "UPHENO:0002385",
+ "UBERON:8450002",
+ "CHEBI:33839",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0004418",
+ "UPHENO:0002442",
+ "UPHENO:0002554",
+ "UBERON:0000064",
"UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UPHENO:0081581",
- "CHEBI:24431",
- "GO:0008152",
- "CHEBI:51143",
"CHEBI:36962",
- "UBERON:0001088",
- "UPHENO:0048707",
- "CHEBI:55370",
- "UBERON:0004769",
- "GO:0042592",
- "UPHENO:0075902",
- "CHEBI:23367",
- "CHEBI:33302",
- "CHEBI:33595",
- "UPHENO:0051739",
- "UPHENO:0002650",
- "BFO:0000020",
- "HP:0003110",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UPHENO:0000541",
- "UPHENO:0004503",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UPHENO:0078550",
+ "HP:0045049",
+ "HP:0012337",
+ "CHEBI:35352",
+ "GO:0032501",
+ "HP:0001942",
+ "HP:0002088",
"HP:0001941",
- "UPHENO:0082539",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0001510",
- "UBERON:0002390",
+ "HP:0004918",
+ "HP:0001995",
+ "HP:0030878",
+ "MPATH:31",
+ "UBERON:0000075",
"UPHENO:0002532",
+ "UPHENO:0002750",
+ "UPHENO:0068054",
+ "CHEBI:33259",
+ "UPHENO:0002642",
+ "UPHENO:0086635",
+ "UPHENO:0002679",
+ "MPATH:14",
+ "UPHENO:0003070",
+ "UPHENO:0002885",
+ "HP:0011844",
+ "UBERON:0034944",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "UPHENO:0005201",
+ "UPHENO:0002593",
+ "HP:0032581",
+ "UPHENO:0002530",
+ "UPHENO:0086628",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UPHENO:0076767",
+ "UPHENO:0003516",
+ "HP:0002857",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "UPHENO:0031228",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0002979",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UPHENO:0086908",
+ "UBERON:0002113",
"BFO:0000040",
- "HP:0040068",
- "HP:0000001",
- "UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UPHENO:0068472",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "HP:0034669",
"UBERON:0000026",
- "HP:0001992",
- "UPHENO:0031166",
- "CHEBI:33256",
- "UPHENO:0068251",
- "UPHENO:0004505",
- "CHEBI:5686",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0076285",
- "BFO:0000001",
- "UPHENO:0002568",
+ "UBERON:0000467",
+ "CHEBI:33582",
"UBERON:0034925",
- "UBERON:0011143",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0000543",
- "UPHENO:0002746",
- "UPHENO:0002442",
- "CHEBI:23443",
- "UBERON:0001969",
- "UPHENO:0046383",
- "UBERON:0002204",
- "UBERON:0000465",
- "UBERON:0001008",
- "CHEBI:24995",
- "CHEBI:37622",
- "HP:0003259",
+ "UPHENO:0002632",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0003094",
+ "UPHENO:0031220",
+ "CHEBI:23367",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0003840",
+ "CHEBI:24833",
+ "UBERON:0010712",
+ "CHEBI:35381",
+ "UBERON:0011249",
+ "UBERON:0015061",
+ "UBERON:0034921",
+ "HP:0012210",
+ "CHEBI:33256",
+ "UBERON:0000468",
+ "UBERON:0004905",
+ "UPHENO:0002585",
"UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "HP:0012100",
- "HP:0012591",
- "CHEBI:25806",
- "UPHENO:0077817",
- "UPHENO:0046284",
- "CHEBI:33582",
+ "CHEBI:33674",
+ "UBERON:0000483",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "HP:0030972",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UPHENO:0002427",
+ "UPHENO:0088582",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0003657",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "HP:0004912",
+ "CHEBI:32988",
+ "UPHENO:0003005",
+ "HP:0003330",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UBERON:0001008",
+ "HP:0001367",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0003227",
+ "UPHENO:0041591",
+ "UBERON:0004288",
"UPHENO:0031142",
- "HP:0032943",
- "UPHENO:0068346",
- "UBERON:0001015",
- "UPHENO:0004459",
- "UPHENO:0002754",
- "CHEBI:33661",
- "HP:0004360",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0051804",
- "UPHENO:0031228",
- "CHEBI:33579",
- "UPHENO:0068352",
- "UPHENO:0068442",
- "GO:0008150",
- "CHEBI:36357",
- "UPHENO:0082834",
- "HP:0430071",
- "PATO:0000001",
- "UPHENO:0069266",
- "HP:0011842",
- "CHEBI:33675",
- "UPHENO:0052038",
- "UBERON:0001977",
- "UPHENO:0002830",
- "CHEBI:50860",
- "HP:0032180",
- "UPHENO:0002525",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UBERON:0002075",
+ "HP:0011314",
+ "CHEBI:33238",
+ "HP:0006487",
+ "UPHENO:0087993",
+ "CHEBI:24867",
+ "UPHENO:0031271",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "HP:0012575",
+ "UPHENO:0002600",
+ "UPHENO:0068110",
+ "UPHENO:0002816",
+ "UPHENO:0051709",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "GO:0001503",
"UPHENO:0051763",
- "UBERON:0011582",
- "UPHENO:0051630",
- "CHEBI:33285",
- "UPHENO:0002870",
- "CHEBI:33304",
- "CHEBI:35352",
- "UPHENO:0076286",
- "UBERON:0002193",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003049",
- "CHEBI:26082",
- "CHEBI:35381",
- "HP:0003109",
- "HP:0000077",
- "UPHENO:0005214",
- "UPHENO:0051900",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "HP:0011277",
- "UBERON:0000489",
- "UPHENO:0068110",
- "CHEBI:26079",
- "HP:0012599",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0077826",
+ "UBERON:0008784",
"HP:0000079",
- "UPHENO:0002269",
- "CHEBI:37577",
+ "UBERON:0000383",
+ "UBERON:0005913",
+ "UPHENO:0002746",
+ "UPHENO:0003066",
+ "CHEBI:50047",
"HP:0000924",
+ "UBERON:0001004",
+ "UPHENO:0082834",
+ "UBERON:0000982",
+ "BFO:0000003",
+ "UPHENO:0087433",
+ "UPHENO:0002870",
+ "UPHENO:0004505",
+ "UBERON:0001434",
+ "UPHENO:0002564",
+ "UBERON:0001015",
+ "UBERON:0004769",
+ "UBERON:0001231",
+ "UBERON:0004120",
+ "UPHENO:0076727",
"HP:0033127",
- "UPHENO:0003411",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
+ "HP:0033354",
+ "UBERON:0002471",
+ "UBERON:0005177",
+ "UPHENO:0076703",
+ "UPHENO:0002832",
"UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0076692",
- "GO:0032501",
- "UPHENO:0075159",
- "UPHENO:0002526",
- "UPHENO:0002949",
- "UBERON:0004288",
- "UPHENO:0076740",
+ "UPHENO:0002559",
+ "UPHENO:0081544",
+ "UPHENO:0076714",
"UPHENO:0003432",
- "UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
- "UBERON:0000174",
- "CHEBI:36360",
- "UBERON:0010000",
+ "UBERON:0010363",
+ "HP:0003774",
+ "UPHENO:0084654",
+ "UPHENO:0002734",
"UBERON:0001474",
+ "UBERON:0001005",
+ "UBERON:0000025",
"UBERON:0003103",
- "UPHENO:0076703",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "HP:0011849",
+ "UBERON:0004765",
+ "HP:0002086",
+ "UBERON:0000171",
+ "UBERON:0004770",
+ "HP:0011842",
+ "UPHENO:0002636",
+ "UBERON:0010709",
+ "UPHENO:0002783",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "GO:0008152",
+ "HP:0001939",
+ "CHEBI:72695",
+ "UPHENO:0081581",
+ "HP:0002815",
+ "UPHENO:0004536",
+ "UPHENO:0002926",
+ "HP:0002748",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "UBERON:0001009",
+ "UBERON:0002193",
+ "UPHENO:0076294",
+ "UBERON:0002204",
+ "HP:0002206",
+ "CHEBI:36360",
+ "HP:0004348",
+ "HP:0002795",
+ "UPHENO:0002267",
+ "UPHENO:0003413",
+ "BFO:0000001",
+ "UPHENO:0002574",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002634",
+ "CHEBI:33241",
+ "HP:0012252",
+ "UPHENO:0002269",
"UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000062",
- "UPHENO:0002964",
- "UBERON:0001434",
- "HP:0002981",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UPHENO:0068064",
- "CHEBI:33832",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002785",
- "HP:0000119",
- "UPHENO:0086635",
- "HP:0002813",
- "UPHENO:0002750",
- "UPHENO:0003005",
- "UBERON:0002471",
- "HP:0006487",
- "UPHENO:0031122",
+ "CHEBI:15841",
+ "UPHENO:0002308",
+ "UBERON:0013522",
+ "UBERON:0005181",
+ "UPHENO:0002448",
"UPHENO:0031318",
- "UBERON:0010363",
- "CHEBI:38304",
- "UPHENO:0002600",
- "UBERON:0004375",
- "UBERON:0004708",
- "UPHENO:0003799",
- "HP:0000940",
- "UBERON:0005173",
- "UBERON:0004381",
+ "UPHENO:0041098",
+ "UBERON:0000475",
+ "UPHENO:0002531",
+ "UBERON:0002048",
+ "CHEBI:37622",
+ "CHEBI:33302",
+ "UBERON:0013701",
"UBERON:0015212",
- "UBERON:0002529",
- "UPHENO:0041591",
- "UBERON:0003823",
+ "HP:0032180",
+ "UPHENO:0003025",
+ "CHEBI:24431",
+ "UPHENO:0002731",
+ "UPHENO:0084763",
+ "UPHENO:0002526",
+ "UPHENO:0031302",
+ "HP:0002148",
+ "UBERON:0005178",
+ "UPHENO:0041573",
+ "CHEBI:37577",
+ "UPHENO:0003088",
+ "UPHENO:0051739",
+ "UBERON:0001558",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "HP:0000940",
"UPHENO:0080300",
- "UPHENO:0002896",
- "UPHENO:0002648",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UBERON:0000064",
- "UBERON:0011249",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "CHEBI:38261",
- "UPHENO:0003812",
- "UPHENO:0004909",
+ "UPHENO:0002785",
+ "UBERON:0000915",
+ "CHEBI:15693",
+ "UPHENO:0076299",
+ "UBERON:0004537",
+ "UBERON:0011676",
+ "CHEBI:36359",
+ "UBERON:0002091",
+ "UPHENO:0002668",
+ "UBERON:0000061",
"UBERON:0000178",
- "UPHENO:0002632",
- "CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0000154",
- "UPHENO:0003516",
+ "UBERON:0004119",
+ "UPHENO:0003812",
+ "CHEBI:33304",
+ "UPHENO:0002568",
+ "UPHENO:0004459",
+ "UPHENO:0002754",
+ "HP:0011793",
+ "UPHENO:0051804",
+ "UPHENO:0034351",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "UPHENO:0075902",
+ "UPHENO:0076692",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0011849",
+ "GO:0008150",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "HP:0006530",
+ "BFO:0000002",
+ "CHEBI:24651",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
"UPHENO:0003095",
- "UPHENO:0076727",
- "UBERON:0006058",
- "UPHENO:0051894",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
+ "UBERON:0000463",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0001003",
+ "UPHENO:0002949",
+ "HP:0004349",
+ "CHEBI:64709",
+ "UBERON:0002049",
+ "UPHENO:0002964",
+ "UBERON:0004708",
+ "UBERON:0000065",
+ "BFO:0000004",
+ "UBERON:0000489",
+ "CHEBI:26020",
+ "UPHENO:0051960",
+ "UBERON:0002513",
+ "GO:0009987",
+ "UPHENO:0084653",
+ "UBERON:0001088",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0002390",
+ "UPHENO:0087462",
+ "UPHENO:0002859",
+ "UPHENO:0031166",
+ "CHEBI:33675",
+ "UPHENO:0002648",
+ "HP:0100491",
+ "UBERON:0002100",
+ "UPHENO:0002643",
+ "UBERON:0000179",
+ "UBERON:0010000",
+ "UPHENO:0002803",
+ "UPHENO:0046284",
+ "CHEBI:51143",
+ "UPHENO:0003065",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "UPHENO:0003084",
"CHEBI:33917",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002593",
- "HP:0002814",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0041610"
+ "CHEBI:26079",
+ "UPHENO:0002246",
+ "HP:0003111",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0006314",
+ "CHEBI:24870",
+ "UPHENO:3000003",
+ "UPHENO:0002411",
+ "UPHENO:0049904",
+ "HP:0030760",
+ "UPHENO:0003381",
+ "UPHENO:0002988",
+ "UPHENO:0066739",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0003015",
+ "UPHENO:0002963"
],
"has_phenotype_closure_label": [
- "macromolecule",
- "Proteinuria",
- "polypeptide",
- "protein polypeptide chain",
- "Aciduria",
- "Abnormal urine pH",
- "Organic aciduria",
+ "Neoplasm of the lung",
+ "Neoplasm",
+ "Neoplasm of the respiratory system",
+ "Lung adenocarcinoma",
+ "Non-small cell lung carcinoma",
+ "cardiovascular system",
+ "circulatory system",
+ "blood vessel",
+ "blood vasculature",
+ "Increased blood pressure",
+ "vascular system",
+ "Hypertension",
+ "vessel",
+ "cardiovascular system phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Renal insufficiency",
+ "Stage 5 chronic kidney disease",
+ "organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "abdominal segment element phenotype",
+ "upper urinary tract phenotype",
+ "nephron tubule",
+ "abdomen",
+ "epithelial tube",
+ "excretory tube phenotype",
+ "kidney",
+ "upper urinary tract",
+ "nephron morphology phenotype",
+ "nephron tubule morphology phenotype",
+ "Tubulointerstitial fibrosis",
+ "abdomen element",
+ "neoplasm phenotype",
+ "hindlimb",
+ "zone of bone organ",
+ "epithelial tube phenotype",
+ "epithelium phenotype",
+ "bone element, curved phenotype",
+ "renal system morphology phenotype",
+ "excretory tube",
+ "tissue",
+ "organic acid",
+ "nephron tubule phenotype",
+ "kidney epithelium phenotype",
+ "increased level of organic acid in urine",
+ "organic oxo compound",
+ "pelvic appendage phenotype",
"urine amino acid level phenotype",
- "carbonyl compound",
"carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
+ "Aminoaciduria",
+ "Abnormal urine protein level",
+ "s-block molecular entity",
+ "nephron epithelium phenotype",
+ "molecule",
"amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
+ "pathological phenotype observation",
+ "emphysema",
+ "Abnormality of bone mineral density",
"oxoacid",
- "Short stature",
- "size of anatomical entity phenotype",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "decreased size of the multicellular organism",
- "trunk phenotype",
- "Abnormality of the kidney",
- "organ physiology phenotype",
- "trunk region element",
- "subdivision of trunk phenotype",
- "subdivision of organism along main body axis phenotype",
- "abdominal segment element phenotype",
- "main body axis",
- "subdivision of organism along main body axis",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "abdomen element phenotype",
- "decreased height of the anatomical entity",
+ "cell and tissue damage process",
+ "tube phenotype",
+ "endochondral bone",
+ "pathological process",
+ "pathological entity",
+ "urine glucose level phenotype",
"cavitated compound organ phenotype",
- "Abnormality of the upper urinary tract",
+ "carbohydrate",
+ "Abnormal urinary organic compound level",
+ "homeostatic process",
+ "polypeptide",
+ "increased level of chemical entity",
+ "Proteinuria",
+ "curved anatomical entity",
"cavitated compound organ",
- "abdominal segment element",
- "abdomen",
- "cavitated compound organ physiology phenotype",
+ "peptide",
+ "organic amino compound",
+ "urine",
+ "genitourinary system phenotype",
+ "organochalcogen compound",
+ "heteroatomic molecular entity",
+ "nitrogen molecular entity",
+ "ossification",
+ "protein polypeptide chain",
+ "abdomen element phenotype",
+ "heteroorganic entity",
+ "organic molecular entity",
+ "anatomical system",
+ "organooxygen compound",
+ "renal tubule phenotype",
+ "respiratory system phenotype",
+ "nitrogen molecular entity level phenotype",
+ "chalcogen molecular entity",
+ "Decreased DLCO",
+ "nephron epithelium",
"compound organ physiology phenotype",
- "glucose",
- "role urine level phenotype",
- "hexose",
- "monosaccharide",
- "urine glucose level phenotype",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "material anatomical entity, curved phenotype",
- "anatomical collection phenotype",
- "lateral structure phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "shape long bone",
- "limb skeleton subdivision phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "skeleton phenotype",
- "bone of appendage girdle complex phenotype",
+ "Acidosis",
+ "Abnormality of acid-base homeostasis",
+ "Abnormal respiratory system physiology",
+ "excreta",
+ "tube",
+ "Metabolic acidosis",
"lateral structure",
- "multi-limb segment region phenotype",
- "Abnormal limb bone morphology",
- "pelvic appendage phenotype",
- "posterior region of body",
- "organism subdivision phenotype",
- "long bone phenotype",
- "limb morphology phenotype",
- "shape anatomical entity",
- "kidney",
- "multicellular anatomical structure, curved phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "renal system phenotype",
+ "lateral structure physiology phenotype",
+ "Abnormal homeostasis",
+ "hydroxides",
+ "Hyperchloremic metabolic acidosis",
+ "material entity",
+ "leg",
+ "abdominal segment element",
+ "hindlimb zeugopod morphology phenotype",
+ "limb",
+ "subdivision of organism along appendicular axis",
+ "Bowing of the legs",
+ "increased urine role level",
"bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "growth phenotype",
+ "Abnormal urine amino acid level",
+ "organic molecule",
+ "limb skeleton subdivision phenotype",
+ "hindlimb morphology phenotype",
+ "Abnormality of the calf",
+ "Abnormality of the lower limb",
+ "Emphysema",
"appendicular skeleton phenotype",
- "Growth abnormality",
- "Growth delay",
- "renal system phenotype",
"renal system physiology phenotype",
- "creatinine",
- "urine chemical entity level phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "increased level of chemical entity in blood serum",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "increased level of creatinine in blood serum",
- "Abnormal circulating organic compound concentration",
- "role blood serum level phenotype",
- "Abnormality of blood and blood-forming tissues",
- "abdominal segment of trunk",
- "excreta",
- "anatomical entity mass density phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "imidazolidinone",
- "imidazolidines",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "increased urine role level",
- "Abnormal urinary electrolyte concentration",
- "independent continuant",
- "increased level of creatinine in blood",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
+ "curvature anatomical entity",
"zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "phenotypic effect",
- "system",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "anatomical conduit phenotype",
"Abnormality of the genitourinary system",
- "quality",
- "heteromonocyclic compound",
- "Abnormal circulating nitrogen compound concentration",
- "phosphorus oxoacid derivative",
- "amide",
- "increased level of chemical entity in blood",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "blood chemical entity level phenotype",
- "bodily fluid",
- "All",
- "heteroatomic molecular entity",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "Renal insufficiency",
- "organ, curved phenotype",
- "organonitrogen compound",
- "increased level of chemical entity in bodily fluid",
- "musculature",
- "limb endochondral element phenotype",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "blood creatinine level phenotype",
- "role bodily fluid level phenotype",
- "heteroorganic entity",
- "increased level of nitrogen molecular entity in blood",
- "subdivision of organism along appendicular axis",
+ "hindlimb joint phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "articular system",
+ "limb segment phenotype",
+ "vasculature",
+ "limb morphology phenotype",
+ "Hyperchloremic acidosis",
+ "knee morphology phenotype",
+ "articulation",
+ "macromolecule",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "viscus",
+ "paired limb/fin skeleton",
+ "carboxamide",
"lower limb segment, curved phenotype",
- "lateral structure physiology phenotype",
- "growth",
- "Abnormal circulating metabolite concentration",
- "limb",
- "genitourinary system",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "chemical entity",
- "subdivision of trunk",
- "organochalcogen compound",
- "increased blood role level",
- "multicellular organism",
- "nitrogen molecular entity",
+ "anatomical entity morphology in the pelvic complex phenotype",
+ "Abnormal appendicular skeleton morphology",
+ "Abnormality of lower limb joint",
+ "shape hindlimb zeugopod",
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "anatomical cluster",
+ "multi organ part structure",
+ "leg phenotype",
+ "multi organ part structure phenotype",
+ "limb endochondral element phenotype",
+ "respiratory system physiology phenotype",
+ "skeletal joint phenotype",
+ "subdivision of skeleton phenotype",
+ "zeugopod, curved phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "uriniferous tubule",
+ "skeleton of limb",
+ "pelvic appendage",
+ "limb joint",
+ "process of degenerative change",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Abnormal bone structure",
+ "Abnormality on pulmonary function testing",
"endochondral element phenotype",
- "process",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "organic molecule",
- "increased blood serum role level",
- "Abnormality of limbs",
- "increased bodily fluid role level",
- "carbohydrates and carbohydrate derivatives",
+ "decreased level of phosphate in blood",
+ "renal tubule",
+ "limb segment, curved phenotype",
+ "carbonyl compound",
+ "nephron",
+ "appendage phenotype",
+ "kidney epithelium morphology phenotype",
+ "knee",
+ "chemical entity",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "skeletal joint",
+ "carboxylic acid",
+ "long bone",
+ "skeleton",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
+ "phosphate level phenotype",
+ "limb skeleton subdivision",
+ "phenotype",
+ "Abnormality of the respiratory system",
+ "Reduced bone mineral density",
+ "appendicular skeletal system",
+ "organism subdivision, curved phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "organ, curved phenotype",
"limb bone",
+ "increased level of monosaccharide in urine",
+ "subdivision of organism along main body axis",
+ "organonitrogen compound",
+ "phosphorus oxoacid derivative",
+ "shape of continuant phenotype",
+ "Abnormality of the knee",
+ "respiration organ",
+ "limb bone morphology phenotype",
+ "continuant",
+ "increased level of glucose in urine",
+ "disconnected anatomical group",
+ "respiratory system morphology phenotype",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "skeletal system",
+ "musculature of body phenotype",
+ "musculoskeletal system",
+ "Glycosuria",
+ "Abnormal limb bone morphology",
+ "Abnormal long bone morphology",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "anatomical entity mass density phenotype",
+ "Abnormality of the musculoskeletal system",
+ "multicellular organism chemical entity level phenotype",
+ "endochondral bone phenotype",
+ "aldose",
"organism substance phenotype",
+ "organ system subdivision",
+ "hindlimb joint",
+ "cardiovascular system physiology phenotype",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "curved long bone",
+ "shape long bone",
+ "increased level of protein polypeptide chain in urine",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
+ "Decreased anatomical entity mass density",
"subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "anatomical structure, curved phenotype",
+ "Abnormality of the skeletal system",
+ "Renal fibrosis",
+ "Abnormal bone ossification",
+ "primary amide",
+ "Rickets",
+ "increased level of chemical entity in urine",
+ "skeletal element",
+ "biological_process",
+ "Abnormal blood ion concentration",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "occurrent",
+ "subdivision of tube",
+ "anatomical structure phenotype",
+ "respiratory tract",
"chemical entity level phenotype",
+ "paired limb/fin phenotype",
+ "epithelium",
+ "anatomical collection phenotype",
+ "kidney epithelium",
"anatomical system physiology phenotype",
- "blood plasma chemical entity level phenotype",
- "compound organ",
- "carboxamide",
- "multi-limb segment region",
+ "trunk phenotype",
+ "lateral structure phenotype",
+ "trunk",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "Abnormal renal tubule morphology",
+ "Abnormal cardiovascular system physiology",
"molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "haemolymphatic fluid phenotype",
- "size of multicellular organism phenotype",
- "limb bone morphology phenotype",
- "increased level of chemical entity in blood plasma",
- "organ system subdivision",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "paired limb/fin skeleton phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin segment",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "heterocyclic compound",
- "anatomical system",
- "zone of organ",
- "organic molecular entity",
- "body proper",
- "entity",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormality of the calf",
- "organism substance",
- "blood plasma",
- "genitourinary system phenotype",
- "Abnormality of bone mineral density",
- "lower limb segment",
- "peptide",
- "Acidosis",
- "hindlimb zeugopod phenotype",
- "phenotype",
- "leg",
- "cyclic amide",
- "Elevated circulating creatinine concentration",
- "subdivision of organism along appendicular axis, curved phenotype",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "monocyclic compound",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "blood organic molecular entity level phenotype",
- "lactam",
- "metabolic process",
- "hindlimb",
- "hemolymphoid system",
- "role blood level phenotype",
- "cyclic compound",
- "delayed biological_process",
- "Bowing of the long bones",
+ "anatomical structure physiology phenotype",
+ "system",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating metabolite concentration",
+ "multi-limb segment region phenotype",
"Abnormal skeletal morphology",
+ "thoracic segment of trunk",
+ "organ part",
"limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "musculoskeletal system",
- "limb segment",
- "taxon specific phenotype",
- "Low-molecular-weight proteinuria",
- "organonitrogen heterocyclic compound",
- "primary amide",
- "blood oxygen molecular entity level phenotype",
- "Metabolic acidosis",
- "occurrent",
- "limb segment, curved phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "continuant",
- "compound organ phenotype",
- "Abnormality of the urinary system",
- "Abnormality of urine homeostasis",
- "oxoacid derivative",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "homeostatic process phenotype",
- "organism subdivision",
- "kidney phenotype",
- "leg phenotype",
- "increased level of chemical entity",
- "biological_process",
- "trunk",
- "molecule",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "multicellular organism chemical entity level phenotype",
- "pelvic complex",
+ "role urine level phenotype",
+ "Pulmonary fibrosis",
"excretory system",
- "biological_process phenotype",
- "Aminoaciduria",
- "decreased size of the multicellular anatomical structure",
- "hindlimb zeugopod",
- "anatomical entity phenotype",
+ "Abnormality of the urinary system",
"phosphate",
- "urine",
- "renal system",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "appendage phenotype",
- "Abnormal urine phosphate concentration",
- "phosphoric acid derivative",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
+ "subdivision of skeletal system",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
"anatomical entity physiology phenotype",
- "hematopoietic system",
- "material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
- "appendage",
- "Abnormal circulating creatinine concentration",
- "urine phosphate level phenotype",
- "Abnormality of the urinary system physiology",
- "skeletal element phenotype",
- "increased level of chemical entity in urine",
- "multicellular anatomical structure",
- "Azotemia",
- "blood",
- "Hyperphosphaturia",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure physiology phenotype",
- "limb endochondral element",
- "Abnormality of the skeletal system",
- "diazolidine",
- "blood serum chemical entity level phenotype",
- "curvature anatomical entity",
+ "Hypophosphatemic rickets",
+ "process",
+ "respiration organ phenotype",
+ "Abnormal systemic blood pressure",
"bone element phenotype",
- "zeugopod, curved phenotype",
- "organic heterocyclic compound",
- "Decreased anatomical entity mass density",
- "delayed growth",
+ "haemolymphatic fluid phenotype",
+ "viscus phenotype",
+ "lower respiratory tract",
+ "lung morphology phenotype",
+ "posterior region of body",
+ "main body axis",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "genitourinary system",
+ "thoracic cavity element",
+ "p-block molecular entity",
+ "bone of appendage girdle complex phenotype",
+ "taxon specific phenotype",
+ "respiratory system",
+ "endoderm-derived structure",
+ "material anatomical entity physiology phenotype",
+ "decreased level of chemical entity in blood",
+ "organ part phenotype",
"Decreased bone element mass density",
- "musculature of body phenotype",
- "organ",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "skeletal element",
- "Rickets",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
+ "hindlimb zeugopod",
+ "body proper",
+ "Chronic kidney disease",
+ "entity",
"paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
+ "oxoacid derivative",
+ "monosaccharide",
+ "thoracic segment organ",
+ "limb bone phenotype",
+ "proximo-distal subdivision of respiratory tract",
+ "blood phosphate level phenotype",
+ "lung phenotype",
+ "articulation phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "anatomical conduit",
+ "Abnormality of the upper urinary tract",
+ "Abnormal joint morphology",
+ "zone of long bone",
+ "All",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "appendage",
+ "organism subdivision phenotype",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "subdivision of organism along main body axis phenotype",
+ "knee phenotype",
+ "Abnormal pulmonary interstitial morphology",
+ "homeostatic process phenotype",
"bone element",
- "organic heteromonocyclic compound",
- "musculature of body",
- "blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "skeletal system phenotype",
- "bone element mass density phenotype",
- "skeleton",
+ "anatomical entity morphology in the respiratory system phenotype",
+ "limb endochondral element",
+ "musculature",
+ "Abnormality of the urinary system physiology",
+ "limb segment",
+ "subdivision of trunk",
+ "zone of organ",
+ "urine chemical entity level phenotype",
+ "subdivision of trunk phenotype",
+ "renal system",
+ "Abnormality of the kidney",
+ "Abnormal DLCO",
+ "Abnormal blood phosphate concentration",
+ "trunk region element",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "anatomical entity fibrosis",
+ "tissue specific degenerative process",
+ "hexose",
+ "amide",
+ "Abnormal renal insterstitial morphology",
+ "phenotypic effect",
+ "multicellular organism morphology phenotype",
+ "anatomical structure, curved phenotype",
+ "independent continuant",
+ "hematopoietic system phenotype",
+ "mesoderm-derived structure",
+ "blood monoatomic ion level phenotype",
+ "Abnormal renal morphology",
+ "Abnormality of metabolism/homeostasis",
+ "tissue phenotype",
+ "respiratory airway",
+ "lung",
+ "Abnormality of the cardiovascular system",
+ "glucose",
+ "pair of lungs",
+ "skeletal joint morphology phenotype",
"organ phenotype",
- "ossification",
- "zeugopod phenotype",
+ "phosphoric acid derivative",
+ "bodily fluid",
+ "Abnormal tubulointerstitial morphology",
+ "elemental molecular entity",
+ "pnictogen molecular entity",
+ "multicellular anatomical structure, curved phenotype",
+ "polyatomic entity",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "blood",
+ "haemolymphatic fluid",
+ "Abnormal respiratory system morphology",
"material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organic cyclic compound",
- "organism subdivision, curved phenotype",
- "endochondral bone phenotype",
- "organ part",
- "chalcogen molecular entity",
- "zone of bone organ",
- "bodily fluid phenotype",
- "pelvic appendage",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "skeletal element, curved phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "anatomical collection",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "blood serum",
- "endochondral element",
+ "biological_process phenotype",
"abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "paired limb/fin phenotype",
- "curved hindlimb zeugopod",
- "long bone",
- "limb segment phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "long bone morphology phenotype",
- "paired limb/fin skeleton"
+ "ion",
+ "phosphorus oxoacids and derivatives",
+ "mesoderm-derived structure phenotype",
+ "material anatomical entity",
+ "monoatomic entity",
+ "musculature phenotype",
+ "anatomical structure",
+ "compound organ phenotype",
+ "anatomical entity",
+ "musculoskeletal system phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "skeleton phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "Abnormal knee morphology",
+ "anatomical system phenotype",
+ "multicellular anatomical structure phenotype",
+ "Hypophosphatemia",
+ "nephron phenotype",
+ "hemolymphoid system",
+ "thoracic cavity element phenotype",
+ "cellular process",
+ "abdominal segment of trunk",
+ "paired limb/fin segment, curved phenotype",
+ "hindlimb phenotype",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "compound organ",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "bodily fluid phenotype",
+ "Genu valgum",
+ "endoderm-derived structure phenotype",
+ "Abnormal nephron morphology",
+ "lung fibrosis",
+ "phosphorus molecular entity",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "aldohexose",
+ "Neoplasm by anatomical site",
+ "Abnormal urine metabolite level",
+ "Abnormal lung morphology"
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 14,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0024525",
+ "id": "MONDO:0014275",
"category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 1",
+ "name": "Fanconi renotubular syndrome 3",
"full_name": null,
"deprecated": null,
- "description": null,
+ "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.",
"xref": [
- "DOID:0080757",
- "MEDGEN:1635492",
- "OMIM:134600",
- "UMLS:C4551503"
+ "DOID:0080759",
+ "GARD:15991",
+ "MEDGEN:816430",
+ "OMIM:615605",
+ "UMLS:C3810100"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "DeToni-Debré-Fanconi syndrome",
- "FRTS1",
- "Fanconi renotubular syndrome",
- "Fanconi renotubular syndrome 1",
- "Fanconi syndrome without cystinosis",
- "Luder-Sheldon syndrome",
- "adult Fanconi syndrome",
- "primary Fanconi renal syndrome",
- "primary Fanconi renotubular syndrome",
- "renal Fanconi syndrome"
+ "EHHADH Fanconi syndrome",
+ "FRTS3",
+ "Fanconi renotubular syndrome 3",
+ "Fanconi renotubular syndrome type 3",
+ "Fanconi syndrome caused by mutation in EHHADH"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0003259",
"HP:0001942",
- "HP:0002148",
- "HP:0000124",
+ "HP:0001510",
"HP:0003109",
- "HP:0003648",
- "HP:0002900",
- "HP:0002749",
"HP:0002748",
- "HP:0034359",
+ "HP:0002979",
"HP:0003076",
- "HP:0003155",
"HP:0000083",
- "HP:0003355",
"HP:0004322",
- "HP:0003126",
- "HP:0001324"
+ "HP:0003355",
+ "HP:0003126"
],
"has_phenotype_label": [
+ "Elevated circulating creatinine concentration",
"Metabolic acidosis",
- "Hypophosphatemia",
- "Renal tubular dysfunction",
+ "Growth delay",
"Hyperphosphaturia",
- "Lacticaciduria",
- "Hypokalemia",
- "Osteomalacia",
"Rickets",
- "Impaired renal tubular reabsorption of phosphate",
+ "Bowing of the legs",
"Glycosuria",
- "Elevated circulating alkaline phosphatase concentration",
"Renal insufficiency",
- "Aminoaciduria",
"Short stature",
- "Low-molecular-weight proteinuria",
- "Muscle weakness"
+ "Aminoaciduria",
+ "Low-molecular-weight proteinuria"
],
"has_phenotype_closure": [
- "UPHENO:0003047",
- "UPHENO:0080556",
- "UBERON:0001630",
- "HP:0011804",
- "UBERON:0005090",
- "HP:0020129",
- "CHEBI:15841",
- "CHEBI:16670",
"HP:0000093",
+ "CHEBI:16541",
+ "CHEBI:16670",
+ "CHEBI:33839",
"HP:0003126",
- "CHEBI:37622",
- "UPHENO:0080351",
- "UPHENO:0080352",
- "UPHENO:0081424",
- "UPHENO:0069062",
- "UPHENO:0069254",
- "UPHENO:0069327",
- "UPHENO:0068971",
- "UPHENO:0081423",
- "UPHENO:0049874",
- "UPHENO:0075195",
- "GO:0040007",
- "UPHENO:0000541",
- "HP:0004322",
- "CHEBI:33674",
- "CHEBI:36586",
- "CHEBI:35605",
- "CHEBI:64709",
- "HP:0040156",
+ "UPHENO:0068565",
+ "HP:0025745",
+ "HP:0003355",
+ "UPHENO:0068169",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
- "UPHENO:0068491",
"CHEBI:33575",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0000083",
- "CHEBI:36080",
- "CHEBI:33839",
- "CHEBI:33256",
- "HP:0001992",
- "HP:0004379",
- "PR:000064867",
- "UPHENO:0046383",
- "CHEBI:33694",
- "HP:0012379",
- "PR:000018263",
- "CHEBI:51143",
- "CHEBI:33695",
- "HP:0034684",
- "PR:000003968",
- "CHEBI:36963",
- "CHEBI:18133",
- "CHEBI:15693",
- "CHEBI:33917",
- "CHEBI:33582",
- "CHEBI:16646",
- "CHEBI:36962",
- "CHEBI:50860",
- "CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
- "GO:0003014",
- "UPHENO:0081777",
- "GO:0070293",
- "HP:0000002",
- "UPHENO:0051191",
- "HP:0034359",
- "UPHENO:0051739",
- "UPHENO:0049703",
- "HP:0011036",
- "HP:0002748",
- "UPHENO:0002754",
"UPHENO:0075159",
- "UPHENO:0002526",
- "GO:0032501",
- "UPHENO:0002803",
- "UPHENO:0005201",
+ "UPHENO:0069254",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "UPHENO:0069327",
+ "UPHENO:0081424",
+ "UPHENO:0069062",
+ "UPHENO:0002422",
+ "UPHENO:0003025",
+ "UPHENO:0002426",
+ "UBERON:0005173",
+ "HP:0012211",
+ "HP:0000083",
+ "UBERON:0005172",
"UBERON:0000916",
- "UBERON:0004819",
- "UPHENO:0002246",
+ "UPHENO:0003050",
+ "UBERON:0002113",
+ "UBERON:0002100",
"HP:0010935",
- "UBERON:0004122",
- "CHEBI:24835",
- "UPHENO:0002377",
- "UPHENO:0003381",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0004503",
- "UPHENO:0002909",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0005172",
- "HP:0002749",
- "HP:0004348",
- "UPHENO:0066954",
- "HP:0012211",
- "UPHENO:0080555",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0050106",
- "CHEBI:24867",
- "HP:0011277",
- "CHEBI:33318",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0002442",
- "HP:0001871",
- "CHEBI:36915",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0051804",
- "UPHENO:0003941",
- "UPHENO:0005285",
- "HP:0000124",
- "CHEBI:26079",
- "UPHENO:0066939",
- "CHEBI:33259",
- "UPHENO:0002554",
- "UPHENO:0004505",
- "UPHENO:0004459",
- "CHEBI:25367",
- "UPHENO:0034253",
- "UBERON:0011676",
- "HP:0001942",
- "GO:0003008",
- "UPHENO:0003413",
- "UPHENO:0002963",
- "UPHENO:0003050",
- "UPHENO:0005141",
- "UPHENO:0002311",
- "UBERON:0001062",
- "BFO:0000003",
- "BFO:0000004",
- "CHEBI:33302",
- "GO:0008152",
- "UPHENO:0002427",
- "UPHENO:0001002",
- "UBERON:0013702",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0000483",
- "UBERON:0003914",
- "UBERON:0011216",
- "UPHENO:0000543",
- "CHEBI:22314",
+ "UBERON:0009569",
+ "UPHENO:0075902",
+ "UPHENO:0089294",
"UPHENO:0051635",
- "UPHENO:0001003",
- "CHEBI:33675",
- "HP:0010930",
- "HP:0004360",
- "HP:0003011",
- "HP:0001324",
+ "HP:6000531",
+ "CHEBI:17234",
+ "UBERON:0013702",
+ "CHEBI:15693",
+ "CHEBI:18133",
+ "CHEBI:16646",
"HP:0003076",
- "HP:0001939",
- "BFO:0000001",
- "UPHENO:0068169",
- "BFO:0000002",
- "UPHENO:0051709",
- "HP:0000077",
- "UPHENO:0051900",
- "UPHENO:0002210",
- "UPHENO:0002530",
- "HP:0001941",
- "UPHENO:0066946",
- "HP:0032943",
- "UPHENO:0002859",
- "UBERON:0001015",
- "UPHENO:0003094",
- "UBERON:0000174",
- "UBERON:0001474",
- "CHEBI:36360",
- "UBERON:0010000",
- "CHEBI:24431",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0002248",
- "HP:0003355",
- "CHEBI:36359",
- "UPHENO:0003430",
- "BFO:0000040",
- "HP:0003155",
- "UPHENO:0046283",
- "UPHENO:0002532",
- "HP:0001510",
- "UBERON:0002390",
- "CHEBI:26082",
- "UBERON:0005177",
- "UBERON:0004111",
- "GO:0008150",
- "HP:0000001",
- "UPHENO:0084654",
+ "UPHENO:0002750",
+ "UPHENO:0003070",
+ "HP:0011844",
+ "UPHENO:0086780",
+ "UPHENO:0075952",
+ "UPHENO:0086628",
+ "UPHENO:0076740",
+ "UBERON:0004375",
+ "UBERON:0003103",
+ "UBERON:0011582",
+ "UBERON:0015061",
+ "UBERON:0034925",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0002648",
+ "UPHENO:0002650",
+ "UPHENO:0002945",
+ "HP:0020129",
+ "UPHENO:0041226",
+ "HP:0002813",
+ "UPHENO:0031228",
+ "UPHENO:0002785",
+ "UBERON:0000978",
+ "HP:0002981",
+ "UBERON:0002101",
+ "UBERON:0000154",
+ "CHEBI:15841",
+ "UBERON:0000064",
+ "UPHENO:0031339",
+ "UPHENO:0004909",
+ "UPHENO:0031220",
+ "UPHENO:0002944",
+ "UBERON:0002103",
+ "UBERON:0010712",
+ "UBERON:0011249",
+ "UPHENO:0041536",
+ "CHEBI:33674",
+ "HP:0002814",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0002386",
+ "UPHENO:0031123",
+ "CHEBI:35381",
+ "UPHENO:0002983",
+ "UBERON:0003823",
+ "UBERON:0000075",
+ "UPHENO:0086956",
+ "UBERON:0004709",
+ "UBERON:0002495",
+ "UPHENO:0003049",
+ "UPHENO:0031302",
+ "UBERON:0006058",
+ "UBERON:0002428",
+ "UPHENO:0068491",
+ "UBERON:0010709",
+ "UBERON:0010707",
"UPHENO:0069266",
+ "UPHENO:0003227",
+ "UBERON:0004288",
+ "UPHENO:0002830",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0031142",
+ "HP:0011314",
+ "UPHENO:0084763",
+ "UPHENO:0002427",
+ "UPHENO:0005214",
+ "UBERON:0004708",
+ "HP:0000924",
+ "UBERON:0034944",
+ "UPHENO:0041610",
+ "UBERON:0005055",
+ "UBERON:0010912",
+ "UPHENO:0002600",
+ "UPHENO:0031276",
+ "UPHENO:0068110",
+ "UBERON:0010758",
+ "UPHENO:0031323",
+ "HP:0000940",
+ "UPHENO:0080300",
+ "UPHENO:0003516",
+ "HP:0004348",
+ "UPHENO:0002976",
+ "UPHENO:0002377",
+ "UPHENO:0002746",
+ "UPHENO:0002816",
"HP:0011842",
- "UPHENO:0075902",
- "UPHENO:0068511",
- "CHEBI:23367",
- "GO:0042592",
- "UPHENO:0003022",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:16541",
- "UPHENO:0004791",
- "HP:0000119",
- "UBERON:0002100",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "HP:0012072",
- "UPHENO:0075666",
- "UBERON:0000178",
+ "UPHENO:0082834",
+ "BFO:0000003",
+ "UPHENO:0002870",
+ "UBERON:0001015",
+ "BFO:0000040",
+ "HP:0033127",
+ "UPHENO:0002832",
"HP:0000118",
- "UPHENO:0068054",
- "HP:0010929",
- "UPHENO:0066739",
- "UBERON:0009773",
- "UBERON:0002113",
+ "UPHENO:0076286",
+ "UPHENO:0005092",
+ "UPHENO:0002559",
"UPHENO:0081544",
- "UPHENO:0034351",
- "UPHENO:0051960",
- "HP:0003111",
- "UBERON:0000064",
- "UPHENO:0002926",
- "UPHENO:0046348",
- "CHEBI:59999",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "CHEBI:33579",
- "UPHENO:0051280",
- "UPHENO:0002536",
- "CHEBI:32988",
- "UPHENO:0002668",
- "UPHENO:0051686",
- "UPHENO:0002832",
- "UPHENO:0081547",
- "UPHENO:0046284",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "CHEBI:33250",
- "CHEBI:50047",
- "UPHENO:0089770",
- "CHEBI:33559",
- "UPHENO:0002636",
- "UBERON:0002193",
- "UPHENO:0002568",
- "CHEBI:24870",
- "UPHENO:0051763",
- "UPHENO:0002287",
- "BFO:0000020",
- "UPHENO:0002525",
+ "UPHENO:0003432",
+ "UPHENO:0002526",
"HP:0032180",
+ "UBERON:0000062",
+ "UPHENO:0002267",
+ "HP:0003109",
+ "HP:0001507",
+ "HP:0002748",
"HP:0003110",
- "UBERON:0006555",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0003093",
- "UPHENO:0002252",
- "UPHENO:0003025",
- "UPHENO:0066951",
- "UPHENO:0076692",
- "UBERON:0000479",
- "BFO:0000015",
- "UBERON:0009569",
- "UPHENO:0002564",
- "UPHENO:0002308",
- "UPHENO:0066913",
- "UPHENO:0002385",
- "UBERON:0005173",
- "CHEBI:36916",
- "UBERON:0015212",
- "UPHENO:0066927",
- "UPHENO:0002386",
- "CHEBI:33238",
- "UBERON:0002417",
- "UBERON:0004211",
- "CHEBI:33285",
- "UPHENO:0002870",
- "UBERON:0007684",
- "UPHENO:0002422",
- "UPHENO:0066964",
- "CHEBI:33709",
- "UPHENO:0066960",
- "UPHENO:0066959",
- "UPHENO:0081581",
- "CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000475",
- "UBERON:0000062",
- "CHEBI:33304",
- "UPHENO:0066921",
+ "UBERON:0000174",
+ "UBERON:0011676",
+ "UBERON:0002091",
+ "CHEBI:36359",
+ "UPHENO:0080352",
+ "UBERON:0000383",
"HP:0000079",
- "HP:0100529",
- "UPHENO:0066943",
- "CHEBI:60004",
- "UPHENO:0024906",
- "CHEBI:35381",
- "HP:0003109",
- "UPHENO:0002269",
- "UPHENO:0002426",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:3000004",
"UBERON:8450002",
- "UBERON:0000383",
- "UPHENO:0002359",
- "HP:0001507",
- "UPHENO:0002642",
- "UPHENO:0066903",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UBERON:0011143",
- "UPHENO:0002320",
- "PATO:0000001",
- "UBERON:0001285",
- "UPHENO:0066925",
- "HP:0012591",
+ "UBERON:0005177",
+ "HP:0033354",
+ "UPHENO:0076703",
+ "UPHENO:0002530",
+ "UBERON:0001088",
"UPHENO:0048707",
- "UBERON:0000489",
- "UPHENO:0068110",
+ "UPHENO:0046348",
+ "HP:0000077",
+ "CHEBI:37577",
+ "CHEBI:23443",
+ "HP:0011277",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UPHENO:0031271",
+ "UPHENO:0002803",
+ "UPHENO:0068054",
+ "UPHENO:0086635",
"HP:0012599",
- "UPHENO:0002531",
- "UPHENO:0002346",
- "CHEBI:33521",
- "UBERON:0001088",
- "CHEBI:28358",
- "UPHENO:0001001",
- "CHEBI:60911",
- "GO:0001503",
- "CHEBI:60242",
- "UPHENO:0002949",
- "UPHENO:0051645",
- "HP:0002900",
- "UBERON:0000467",
- "UPHENO:0079822",
- "HP:0033354",
- "CHEBI:26216",
- "HP:0011038",
- "UPHENO:0068352",
- "UPHENO:0089756",
- "HP:0011042",
- "CHEBI:25806",
- "UPHENO:0034199",
+ "UPHENO:0002642",
+ "UPHENO:0003413",
+ "UPHENO:0000543",
+ "UBERON:0010363",
+ "UPHENO:0084654",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0012337",
"CHEBI:35352",
- "HP:0003648",
- "UPHENO:0076286",
- "CHEBI:36914",
+ "HP:0001942",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "HP:0001941",
+ "UBERON:0004769",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "UPHENO:0041591",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "BFO:0000001",
+ "UBERON:0002513",
+ "GO:0009987",
"UPHENO:0084653",
- "HP:0012337",
+ "CHEBI:36963",
+ "UBERON:0001434",
+ "UPHENO:0003005",
+ "CHEBI:32988",
+ "CHEBI:33285",
+ "UPHENO:0002525",
+ "HP:0012591",
+ "CHEBI:33579",
+ "UPHENO:0075195",
+ "UPHENO:0002360",
+ "GO:0008150",
+ "UPHENO:0002861",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0003812",
+ "CHEBI:33661",
+ "UPHENO:0002385",
+ "UPHENO:0004459",
+ "UPHENO:0002568",
+ "CHEBI:23367",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0068049",
+ "UPHENO:0068442",
+ "UPHENO:0003088",
+ "UPHENO:0041573",
+ "UPHENO:0089764",
+ "UPHENO:0002949",
+ "UPHENO:0076285",
+ "HP:0002979",
+ "UPHENO:0002632",
+ "HP:0430071",
+ "CHEBI:33582",
+ "UBERON:0002193",
+ "HP:0004360",
+ "UPHENO:0001002",
+ "CHEBI:24833",
+ "CHEBI:33670",
+ "CHEBI:25367",
+ "CHEBI:38261",
+ "BFO:0000002",
+ "CHEBI:36587",
+ "UPHENO:0002593",
+ "UPHENO:0046383",
+ "UPHENO:0077817",
+ "HP:0003259",
+ "CHEBI:33595",
+ "UPHENO:0001001",
"UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0003432",
- "UPHENO:0002731",
+ "UPHENO:0081423",
+ "UPHENO:0003095",
+ "UBERON:0000463",
+ "UPHENO:0041258",
+ "CHEBI:26082",
+ "UBERON:0001062",
+ "UBERON:0002529",
+ "UPHENO:0068251",
+ "HP:0004364",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
+ "GO:0001503",
+ "UBERON:0000026",
+ "UPHENO:0079534",
+ "CHEBI:24532",
+ "UBERON:0011216",
+ "UPHENO:0004503",
+ "UPHENO:0082539",
+ "HP:0006487",
+ "CHEBI:33304",
+ "CHEBI:36586",
+ "UPHENO:0031122",
+ "UPHENO:0002536",
+ "CHEBI:38304",
+ "CHEBI:33302",
+ "UBERON:0005913",
"HP:0004349",
- "UBERON:0003103",
- "UPHENO:0066950",
- "UPHENO:0076703",
- "HP:0011849",
+ "CHEBI:64709",
+ "UBERON:0000489",
+ "GO:0042592",
+ "UPHENO:0002964",
+ "UPHENO:0002731",
+ "HP:0012100",
+ "CHEBI:24431",
+ "CHEBI:33709",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0006314",
+ "UPHENO:0001003",
+ "UBERON:0004381",
+ "UBERON:0000465",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "HP:0002157",
+ "UPHENO:0002532",
+ "CHEBI:50860",
+ "CHEBI:36962",
+ "UBERON:0010000",
+ "UPHENO:0046284",
+ "UBERON:0004765",
+ "UPHENO:0068346",
+ "UPHENO:0003094",
+ "UPHENO:0003065",
+ "CHEBI:51143",
+ "BFO:0000004",
+ "CHEBI:78616",
+ "UPHENO:0082536",
+ "UBERON:0002390",
+ "CHEBI:5686",
+ "HP:0001510",
"UPHENO:0082835",
- "HP:0003330",
- "UPHENO:0002964"
- ],
- "has_phenotype_closure_label": [
- "muscle structure",
- "Abnormal muscle physiology",
- "decreased muscle organ strength",
- "Abnormality of the musculature",
- "muscle organ",
- "muscle structure physiology phenotype",
- "Muscle weakness",
- "Low-molecular-weight proteinuria",
- "primary amide",
- "polypeptide",
- "muscle organ physiology phenotype",
+ "CHEBI:55370",
+ "UPHENO:0051686",
+ "CHEBI:24651",
+ "UPHENO:0002246",
+ "UBERON:0010538",
+ "CHEBI:36360",
+ "UPHENO:0002909",
+ "UPHENO:0000541",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "CHEBI:37622",
+ "UPHENO:0076692",
+ "UPHENO:0051630",
+ "CHEBI:24995",
+ "CHEBI:35605",
+ "UPHENO:0052038",
+ "UPHENO:0031166",
+ "UPHENO:0002554",
+ "CHEBI:72695",
+ "CHEBI:16737",
+ "CHEBI:25806",
+ "UBERON:0008784",
+ "HP:0003330",
+ "UPHENO:0003411",
+ "BFO:0000015",
+ "UPHENO:0002585",
+ "CHEBI:33256",
+ "UBERON:0001977",
+ "UBERON:0000475",
+ "UPHENO:0041098",
+ "GO:0032501",
+ "UBERON:0002204",
+ "UPHENO:0068064",
+ "CHEBI:26020",
+ "UPHENO:0002411",
+ "UBERON:0000179",
+ "UPHENO:0068472",
+ "UBERON:0001969",
+ "HP:0000001",
+ "UPHENO:0077826",
+ "UBERON:0000468",
+ "UBERON:0000178",
+ "UPHENO:0051894",
+ "UBERON:0011143",
+ "CHEBI:25693",
+ "UPHENO:0031318",
+ "UPHENO:0051900",
+ "UPHENO:0084767",
+ "CHEBI:36357",
+ "HP:0000119",
+ "HP:0011849",
+ "UPHENO:0004505",
+ "UPHENO:0049904",
+ "UPHENO:0078550",
+ "CHEBI:38101",
+ "UBERON:0000061",
+ "CHEBI:33241",
+ "UBERON:0000467",
+ "UPHENO:0002963",
+ "UPHENO:0002308",
+ "UPHENO:0068352",
+ "UPHENO:0051763",
+ "CHEBI:33832"
+ ],
+ "has_phenotype_closure_label": [
+ "Proteinuria",
+ "Abnormal urine protein level",
"protein polypeptide chain",
- "Short stature",
- "decreased height of the multicellular organism",
- "anatomical entity height phenotype",
- "delayed biological_process",
- "Growth abnormality",
- "Growth delay",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "decreased size of the multicellular anatomical structure",
- "Aminoaciduria",
+ "increased level of organic acid in urine",
+ "organic oxo compound",
"urine amino acid level phenotype",
- "carbonyl compound",
"carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
- "hydrogen molecular entity",
+ "s-block molecular entity",
"hydroxides",
- "increased level of carboxylic acid in urine",
- "oxoacid",
- "Renal insufficiency",
- "Abnormality of alkaline phosphatase level",
- "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
- "alkaline phosphatase, tissue-nonspecific isozyme",
- "protein-containing molecular entity",
- "amino acid chain",
- "organic amino compound",
- "macromolecule",
- "biomacromolecule",
- "nitrogen molecular entity",
- "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
- "decreased anatomical entity strength",
- "glucose",
- "aldose",
- "monosaccharide",
- "urine glucose level phenotype",
- "heteroorganic entity",
- "Glycosuria",
- "Abnormal urinary organic compound level",
- "carbohydrates and carbohydrate derivatives",
- "chalcogen molecular entity",
- "organic molecular entity",
- "renal absorption phenotype",
- "increased level of monosaccharide in urine",
- "multicellular organismal process phenotype",
- "renal system process phenotype",
- "Impaired renal tubular reabsorption of phosphate",
- "Abnormality of renal excretion",
- "Rickets",
- "renal system",
- "renal system physiology phenotype",
- "blood cation level phenotype",
- "renal system phenotype",
+ "amino acid level phenotype",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "decreased size of the anatomical structure",
+ "abdomen element physiology phenotype",
"multicellular anatomical structure physiology phenotype",
- "genitourinary system phenotype",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "organism subdivision phenotype",
- "increased level of protein polypeptide chain in urine",
- "organic oxo compound",
- "system process",
- "Abnormality of metabolism/homeostasis",
- "kidney epithelium phenotype",
+ "multicellular organism height phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "Abnormality of the kidney",
+ "trunk",
+ "compound organ physiology phenotype",
+ "upper urinary tract",
+ "subdivision of trunk",
"subdivision of organism along main body axis phenotype",
+ "cavitated compound organ phenotype",
+ "abdomen element",
"abdominal segment element physiology phenotype",
- "abdominal segment element",
- "organ phenotype",
- "decreased functionality of the nephron tubule",
- "tissue",
- "organooxygen compound",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "hexose",
- "decreased functionality of the anatomical conduit",
- "muscle organ phenotype",
- "Aciduria",
- "kidney",
- "cation",
- "renal system process",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "kidney epithelium",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Renal tubular dysfunction",
- "phosphoric acid derivative",
- "anatomical conduit",
- "oxoacid derivative",
- "decreased functionality of the tube",
- "Abnormality of urine homeostasis",
- "role urine level phenotype",
- "decreased level of phosphate in blood",
- "excretory tube physiology phenotype",
- "skeletal system phenotype",
- "monoatomic entity",
- "nephron epithelium phenotype",
- "blood chemical entity level phenotype",
- "anatomical conduit phenotype",
- "organ system subdivision",
+ "peptide",
"cavitated compound organ",
- "abdomen",
- "uriniferous tubule",
- "organism substance phenotype",
- "Abnormality of blood and blood-forming tissues",
- "potassium atom level phenotype",
- "Abnormal circulating metabolite concentration",
- "multicellular organism height phenotype",
- "increased level of phosphate in urine",
- "bodily fluid phenotype",
- "increased level of rac-lactic acid in urine",
- "process",
- "decreased functionality of the kidney epithelium",
- "mesoderm-derived structure phenotype",
- "Abnormality of acid-base homeostasis",
- "urine chemical entity level phenotype",
- "excretory tube phenotype",
- "increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "Hypophosphatemia",
- "anatomical conduit physiology phenotype",
- "tube physiology phenotype",
- "quality",
- "Osteomalacia",
- "anatomical system",
- "anatomical structure",
- "organ physiology phenotype",
- "biological_process",
- "pnictogen molecular entity",
- "blood monoatomic ion level phenotype",
- "phenotypic effect",
- "Abnormality of the genitourinary system",
- "nephron tubule",
- "organism substance",
- "lateral structure",
- "protein",
- "bone element mass density phenotype",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "information biomacromolecule",
- "taxon specific phenotype",
- "heteroatomic molecular entity",
- "bodily fluid",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "organonitrogen compound",
- "Abnormal blood monovalent inorganic cation concentration",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "independent continuant",
- "organ",
- "renal tubule phenotype",
- "Elevated circulating alkaline phosphatase concentration",
- "decreased level of chemical entity in blood",
- "continuant",
+ "kidney phenotype",
"compound organ phenotype",
- "Abnormality of the urinary system",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "peptide",
- "Acidosis",
- "phenotype",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "specifically dependent continuant",
- "homeostatic process",
- "Abnormal bone ossification",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "material anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "nephron phenotype",
- "epithelium phenotype",
- "abdomen element physiology phenotype",
- "Metabolic acidosis",
- "decreased functionality of the anatomical entity",
- "organ part phenotype",
- "occurrent",
- "phosphate level phenotype",
- "decreased size of the anatomical entity",
- "monoatomic ion",
- "musculoskeletal system phenotype",
- "molecular entity",
- "abdomen element",
- "material entity",
- "main group molecular entity",
- "subdivision of organism along main body axis",
- "haemolymphatic fluid phenotype",
- "amide",
- "phosphorus oxoacid derivative",
- "multicellular anatomical structure phenotype",
- "elemental molecular entity",
- "multicellular organism chemical entity level phenotype",
+ "lateral structure physiology phenotype",
+ "compound organ",
+ "kidney physiology phenotype",
+ "Abnormal renal physiology",
+ "urine glucose level phenotype",
+ "carbohydrate",
+ "organ physiology phenotype",
+ "role urine level phenotype",
+ "glucose",
+ "aldohexose",
+ "Abnormal urinary organic compound level",
+ "leg",
+ "abdominal segment element",
+ "limb",
+ "limb segment",
+ "zone of organ",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "anatomical collection phenotype",
+ "Bowing of the legs",
+ "bone of free limb or fin phenotype",
+ "increased level of protein polypeptide chain in urine",
+ "appendicular skeleton phenotype",
+ "hindlimb morphology phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "Abnormality of the calf",
+ "lower limb segment",
+ "multi-limb segment region",
+ "paired limb/fin segment",
+ "zone of bone organ",
+ "pelvic complex",
+ "diaphysis",
+ "material anatomical entity, curved phenotype",
+ "abdominal segment of trunk",
+ "subdivision of organism along appendicular axis phenotype",
+ "decreased size of the material anatomical entity",
+ "limb segment phenotype",
+ "limb morphology phenotype",
+ "subdivision of skeletal system",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "lateral structure",
+ "macromolecule",
+ "Abnormality of limb bone",
+ "bone element, curved phenotype",
+ "paired limb/fin skeleton",
+ "limb endochondral element",
+ "limb endochondral element phenotype",
+ "lower limb segment, curved phenotype",
+ "anatomical entity morphology in the pelvic complex phenotype",
"cavitated compound organ physiology phenotype",
- "chemical entity level phenotype",
- "renal absorption",
- "anatomical system physiology phenotype",
- "entity",
+ "Abnormal appendicular skeleton morphology",
+ "shape hindlimb zeugopod",
"body proper",
- "epithelial tube phenotype",
- "organic molecule",
- "decreased functionality of the epithelium",
- "decreased functionality of the epithelial tube",
- "system process phenotype",
- "anatomical entity phenotype",
- "decreased functionality of the renal tubule",
- "compound organ physiology phenotype",
- "delayed growth",
- "Decreased bone element mass density",
- "decreased level of chemical entity",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "kidney physiology phenotype",
- "anatomical structure phenotype",
- "anatomical structure physiology phenotype",
- "Abnormal urine pH",
- "phosphate",
+ "hindlimb zeugopod",
+ "main body axis",
+ "posterior region of body",
+ "anatomical collection",
"abdominal segment element phenotype",
- "epithelial tube physiology phenotype",
- "ion",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "Abnormal circulating enzyme concentration or activity",
- "chemical entity",
- "epithelium",
- "Abnormal renal physiology",
+ "leg phenotype",
+ "subdivision of skeleton phenotype",
+ "trunk phenotype",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "skeleton of limb",
+ "curvature anatomical entity",
+ "endochondral bone",
+ "appendicular skeleton morphology phenotype",
+ "long bone phenotype",
+ "bone of appendage girdle complex",
+ "zeugopod, curved phenotype",
+ "endochondral element phenotype",
+ "limb segment, curved phenotype",
+ "shape anatomical entity",
+ "zeugopod phenotype",
+ "organism subdivision, curved phenotype",
+ "hindlimb zeugopod morphology phenotype",
+ "endochondral element",
+ "lower limb segment phenotype",
+ "Abnormal diaphysis morphology",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "organ, curved phenotype",
+ "limb bone",
+ "pelvic appendage phenotype",
+ "increased level of monosaccharide in urine",
+ "phosphorus oxoacid derivative",
+ "organonitrogen compound",
+ "shape of continuant phenotype",
+ "curved anatomical entity",
+ "long bone morphology phenotype",
+ "skeleton of limb phenotype",
+ "increased level of glucose in urine",
+ "hematopoietic system",
+ "curved hindlimb zeugopod",
+ "subdivision of organism along appendicular axis, curved phenotype",
+ "heteroatomic molecular entity",
+ "Reduced bone mineral density",
+ "homeostatic process phenotype",
+ "bone element",
+ "abdomen",
+ "increased urine role level",
"musculoskeletal system",
- "material anatomical entity phenotype",
- "nephron",
+ "Abnormality of bone mineral density",
+ "Glycosuria",
+ "Abnormal long bone morphology",
+ "skeletal system",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "multicellular organism chemical entity level phenotype",
+ "lactam",
+ "endochondral bone phenotype",
+ "aldose",
+ "appendicular skeleton",
+ "skeletal system morphology phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "shape long bone",
+ "organ system subdivision",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "Abnormal skeletal morphology",
+ "multi-limb segment region phenotype",
+ "Aminoaciduria",
+ "musculature",
+ "trunk region element phenotype",
+ "zone of long bone",
+ "organism subdivision phenotype",
+ "All",
+ "skeletal element phenotype",
+ "bone element phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "Abnormal urine phosphate concentration",
"anatomical entity mass density phenotype",
- "decreased functionality of the multicellular anatomical structure",
- "renal/urinary system phenotype",
- "trunk region element physiology phenotype",
- "organism subdivision",
- "homeostatic process phenotype",
- "nephron epithelium",
- "renal tubule",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "genitourinary system",
+ "hindlimb zeugopod phenotype",
+ "organ",
+ "excretory system",
+ "phosphate",
+ "Abnormality of limbs",
+ "skeletal system phenotype",
"anatomical entity physiology phenotype",
- "tube",
- "hematopoietic system",
+ "urine",
+ "genitourinary system phenotype",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "curved long bone",
+ "phosphorus molecular entity",
+ "Abnormality of the genitourinary system",
"material anatomical entity physiology phenotype",
- "decreased size of the material anatomical entity",
+ "Abnormal homeostasis",
+ "Abnormal circulating nitrogen compound concentration",
+ "renal system phenotype",
+ "renal system",
+ "bone of appendage girdle complex phenotype",
+ "Abnormal bone structure",
+ "hematopoietic system phenotype",
+ "biological_process",
+ "renal/urinary system phenotype",
+ "Decreased bone element mass density",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "oxoacid derivative",
+ "limb bone morphology phenotype",
"urine phosphate level phenotype",
- "decreased level of potassium atom in blood",
- "main body axis",
- "musculature",
- "decreased functionality of the tissue",
- "tissue phenotype",
- "decreased size of the anatomical structure",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormality of the urinary system physiology",
- "subdivision of trunk phenotype",
- "Decreased anatomical entity mass density",
- "main group element atom",
- "anatomical entity",
- "upper urinary tract",
- "upper urinary tract phenotype",
- "decreased height of the anatomical entity",
- "cavitated compound organ phenotype",
- "tissue physiology phenotype",
- "nephron tubule phenotype",
- "anatomical entity dysfunction in independent continuant",
- "biological_process phenotype",
- "excretory system",
- "genitourinary system",
- "Abnormal enzyme concentration or activity",
- "trunk region element",
- "Hypokalemia",
- "carboxamide",
- "compound organ",
- "Abnormality of the kidney",
- "abdomen element phenotype",
- "decreased functionality of the excretory tube",
- "Abnormality of the skeletal system",
- "lateral structure phenotype",
- "decreased functionality of the anatomical structure",
- "excreta",
- "abdominal segment of trunk",
- "epithelium physiology phenotype",
- "decreased functionality of the material anatomical entity",
- "blood monovalent inorganic cation level phenotype",
- "urine",
- "Abnormal urine phosphate concentration",
- "multicellular anatomical structure",
- "blood",
- "Hyperphosphaturia",
- "increased level of chemical entity",
- "chemical substance",
- "Abnormal urinary electrolyte concentration",
- "increased urine role level",
- "rac-lactic acid",
- "mixture",
- "kidney phenotype",
- "decreased role blood level",
- "blood potassium atom level phenotype",
- "multicellular organism",
- "racemate",
- "blood phenotype",
- "multicellular organismal process",
- "excretory tube",
- "Lacticaciduria",
- "atom",
- "monovalent inorganic cation",
- "Abnormal blood potassium concentration",
- "inorganic cation",
- "size of anatomical entity phenotype",
- "potassium atom",
- "muscle structure phenotype",
+ "pelvic appendage",
+ "delayed growth",
+ "growth",
+ "Growth delay",
+ "system",
+ "blood nitrogen molecular entity level phenotype",
+ "anatomical entity morphology phenotype",
+ "Abnormal circulating organic compound concentration",
+ "delayed biological_process",
+ "organism subdivision",
"growth phenotype",
- "Abnormal blood cation concentration",
- "hemolymphoid system",
+ "Abnormality of acid-base homeostasis",
+ "limb phenotype",
+ "appendage girdle complex",
+ "phosphorus oxoacids and derivatives",
+ "excreta",
+ "Metabolic acidosis",
+ "blood serum",
+ "blood plasma",
+ "cyclic compound",
+ "Bowing of the long bones",
+ "skeletal element, curved phenotype",
+ "Decreased anatomical entity mass density",
+ "limb skeleton subdivision phenotype",
+ "organic molecule",
+ "independent continuant",
+ "multicellular organism morphology phenotype",
+ "Abnormality of the urinary system physiology",
+ "material entity",
+ "carboxylic acid",
+ "limb skeleton subdivision",
+ "blood chemical entity level phenotype",
+ "kidney",
+ "Abnormality of metabolism/homeostasis",
+ "process",
+ "phosphate level phenotype",
+ "occurrent",
+ "increased level of creatinine in blood serum",
+ "increased level of chemical entity in bodily fluid",
+ "biological_process phenotype",
+ "polypeptide",
+ "role bodily fluid level phenotype",
"role blood level phenotype",
- "metabolic process",
- "inorganic molecular entity",
- "Abnormal renal tubular resorption",
- "s-block element atom",
+ "imidazolidines",
+ "organ phenotype",
+ "homeostatic process",
+ "lateral structure phenotype",
+ "diazolidine",
+ "cyclic amide",
+ "phosphoric acid derivative",
+ "hindlimb",
+ "appendage",
+ "bodily fluid",
+ "organooxygen compound",
+ "organic molecular entity",
+ "Rickets",
+ "primary amide",
+ "size of anatomical entity phenotype",
+ "blood",
+ "haemolymphatic fluid",
+ "Abnormal bone ossification",
+ "material anatomical entity",
"organochalcogen compound",
- "subdivision of trunk",
- "metal atom",
- "decreased functionality of the nephron epithelium",
- "role bodily fluid level phenotype",
- "growth",
- "lateral structure physiology phenotype",
- "inorganic ion",
- "alkali metal atom",
- "bone element phenotype",
+ "increased level of chemical entity in blood plasma",
+ "Renal insufficiency",
+ "increased level of creatinine in blood",
+ "increased bodily fluid role level",
"musculature of body phenotype",
+ "Abnormality of the musculoskeletal system",
+ "carboxamide",
+ "long bone",
+ "multicellular organism",
+ "oxygen molecular entity",
+ "nitrogen molecular entity",
+ "bone element mass density phenotype",
+ "main group molecular entity",
+ "musculoskeletal system phenotype",
+ "Acidosis",
+ "blood plasma chemical entity level phenotype",
+ "hexose",
+ "amide",
+ "phenotypic effect",
+ "increased level of chemical entity in blood serum",
+ "heterocyclic compound",
+ "Phenotypic abnormality",
+ "anatomical entity phenotype",
+ "chalcogen molecular entity",
+ "creatinine",
+ "appendicular skeletal system",
+ "phenotype",
+ "role blood serum level phenotype",
+ "increased level of chemical entity in urine",
"skeletal element",
- "Abnormal bone structure",
- "trunk region element phenotype",
- "multicellular organism morphology phenotype",
- "skeletal system morphology phenotype",
- "Abnormal homeostasis",
+ "decreased height of the anatomical entity",
+ "abdomen element phenotype",
+ "increased blood role level",
+ "heteroorganic entity",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "increased level of phosphate in urine",
+ "metabolic process",
+ "carbon group molecular entity",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "Azotemia",
+ "organonitrogen heterocyclic compound",
+ "organic heterocyclic compound",
+ "musculature phenotype",
+ "anatomical structure",
+ "blood oxygen molecular entity level phenotype",
+ "carbonyl compound",
+ "appendage phenotype",
+ "Elevated circulating creatinine concentration",
+ "organic cyclic compound",
+ "Abnormality of urine homeostasis",
+ "organ system subdivision phenotype",
+ "increased blood serum role level",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "organic amino compound",
+ "increased level of nitrogen molecular entity in blood",
+ "heteromonocyclic compound",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "oxoacid",
+ "blood serum chemical entity level phenotype",
+ "decreased size of the multicellular organism",
"p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormal skeletal morphology",
+ "blood organic molecular entity level phenotype",
+ "paired limb/fin phenotype",
+ "chemical entity level phenotype",
+ "anatomical structure phenotype",
+ "Abnormality of the lower limb",
+ "multicellular anatomical structure phenotype",
+ "imidazolidinone",
+ "trunk region element physiology phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "zeugopod",
+ "renal system physiology phenotype",
+ "bone of free limb or fin",
+ "monocyclic compound",
+ "hindlimb phenotype",
+ "blood phenotype",
+ "multicellular anatomical structure",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "molecule",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "entity",
+ "Abnormal circulating creatinine concentration",
+ "Low-molecular-weight proteinuria",
"ossification",
- "carbohydrate",
- "skeletal system"
+ "amino acid",
+ "subdivision of skeletal system phenotype",
+ "Abnormal urinary electrolyte concentration",
+ "Growth abnormality",
+ "organic acid",
+ "taxon specific phenotype",
+ "increased level of chemical entity",
+ "anatomical system phenotype",
+ "blood creatinine level phenotype",
+ "skeleton",
+ "organism substance",
+ "anatomical entity",
+ "Abnormal urine amino acid level",
+ "organic heteromonocyclic compound",
+ "anatomical system physiology phenotype",
+ "increased level of chemical entity in blood",
+ "nitrogen molecular entity level phenotype",
+ "multicellular anatomical structure, curved phenotype",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "anatomical structure, curved phenotype",
+ "hemolymphoid system",
+ "cellular process",
+ "paired limb/fin segment, curved phenotype",
+ "haemolymphatic fluid phenotype"
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0100238",
+ "id": "MONDO:0024525",
"category": "biolink:Disease",
- "name": "inherited Fanconi renotubular syndrome",
+ "name": "Fanconi renotubular syndrome 1",
"full_name": null,
"deprecated": null,
- "description": "An instance of Fanconi renotubular syndrome that is inherited.",
- "xref": ["OMIMPS:134600"],
- "provided_by": "phenio_nodes",
- "in_taxon": null,
- "in_taxon_label": null,
- "symbol": null,
- "synonym": ["hereditary Fanconi renotubular syndrome"],
- "uri": null,
- "iri": null,
- "namespace": "MONDO",
- "has_phenotype": null,
- "has_phenotype_label": null,
- "has_phenotype_closure": null,
- "has_phenotype_closure_label": null,
- "has_phenotype_count": 0,
- "highlight": null,
- "score": null
- },
- {
- "id": "MONDO:0030056",
- "category": "biolink:Disease",
- "name": "Fanconi renotubular syndrome 5",
- "full_name": null,
- "deprecated": null,
- "description": null,
- "xref": [
- "DOID:0080761",
- "GARD:16392",
- "MEDGEN:1711127",
- "OMIM:618913",
- "UMLS:C5394473"
- ],
+ "description": null,
+ "xref": [
+ "DOID:0080757",
+ "MEDGEN:1635492",
+ "OMIM:134600",
+ "UMLS:C4551503"
+ ],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCONI RENOTUBULAR SYNDROME 5",
- "FRTS5",
- "Fanconi Renotubular Syndrome, Acadian Variant",
- "Fanconi renotubular syndrome 5"
+ "DeToni-Debré-Fanconi syndrome",
+ "FRTS1",
+ "Fanconi renotubular syndrome",
+ "Fanconi renotubular syndrome 1",
+ "Fanconi syndrome without cystinosis",
+ "Luder-Sheldon syndrome",
+ "adult Fanconi syndrome",
+ "primary Fanconi renal syndrome",
+ "primary Fanconi renotubular syndrome",
+ "renal Fanconi syndrome"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001942",
"HP:0002148",
- "HP:0002206",
- "HP:0004912",
- "HP:0002857",
- "HP:0004918",
- "HP:0045051",
- "HP:0000093",
+ "HP:0000124",
+ "HP:0003109",
+ "HP:0003648",
+ "HP:0002900",
+ "HP:0002749",
+ "HP:0002748",
+ "HP:0034359",
"HP:0003076",
- "HP:0002097",
- "HP:0030078",
+ "HP:0003155",
"HP:0003355",
- "HP:0005576",
- "HP:0003774",
- "HP:0000822"
+ "HP:0004322",
+ "HP:0003126",
+ "HP:0001324",
+ "HP:0000083"
],
"has_phenotype_label": [
+ "Metabolic acidosis",
"Hypophosphatemia",
- "Pulmonary fibrosis",
- "Hypophosphatemic rickets",
- "Genu valgum",
- "Hyperchloremic metabolic acidosis",
- "Decreased DLCO",
- "Proteinuria",
+ "Renal tubular dysfunction",
+ "Hyperphosphaturia",
+ "Lacticaciduria",
+ "Hypokalemia",
+ "Osteomalacia",
+ "Rickets",
+ "Impaired renal tubular reabsorption of phosphate",
"Glycosuria",
- "Emphysema",
- "Lung adenocarcinoma",
+ "Elevated circulating alkaline phosphatase concentration",
"Aminoaciduria",
- "Tubulointerstitial fibrosis",
- "Stage 5 chronic kidney disease",
- "Hypertension"
+ "Short stature",
+ "Low-molecular-weight proteinuria",
+ "Muscle weakness",
+ "Renal insufficiency"
],
"has_phenotype_closure": [
- "UBERON:0000055",
- "UPHENO:0004507",
- "UBERON:0034923",
- "HP:0011025",
- "UBERON:0004537",
- "HP:0001626",
- "HP:0032263",
- "UPHENO:0002422",
- "UPHENO:0002386",
- "UPHENO:0002427",
- "UPHENO:0002308",
- "UPHENO:0002360",
"HP:0000083",
- "HP:0012622",
- "UPHENO:0002246",
- "UPHENO:0005285",
- "UPHENO:0076779",
- "UPHENO:0005141",
- "UBERON:0009773",
- "UBERON:0007684",
- "UPHENO:0002564",
- "UPHENO:0087427",
- "UPHENO:0003093",
- "HP:0032581",
- "UBERON:0006555",
- "UPHENO:0076756",
- "HP:0012575",
- "UPHENO:0002803",
- "UPHENO:0003381",
- "HP:0005576",
- "UBERON:0004819",
- "UPHENO:0003094",
- "UPHENO:0002909",
- "UBERON:0000483",
- "UPHENO:0003941",
- "CHEBI:33674",
- "CHEBI:36586",
+ "UBERON:0001630",
+ "UPHENO:0080556",
+ "UPHENO:0002320",
+ "UPHENO:0003022",
+ "HP:0001324",
+ "CHEBI:32988",
+ "HP:0000093",
+ "CHEBI:33256",
+ "HP:0020129",
+ "UPHENO:0068565",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0080351",
+ "HP:0004322",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
"CHEBI:35605",
- "CHEBI:64709",
- "UBERON:0001009",
+ "UPHENO:0068169",
+ "CHEBI:72695",
"CHEBI:33608",
- "CHEBI:24651",
- "CHEBI:36587",
- "CHEBI:24833",
- "UPHENO:0068144",
+ "CHEBI:33575",
"UPHENO:0068491",
+ "CHEBI:33674",
+ "CHEBI:25367",
+ "UPHENO:0068144",
"UPHENO:0046286",
- "HP:0002664",
- "UPHENO:3000003",
- "HP:0100606",
- "HP:0030358",
- "HP:0100526",
- "MPATH:14",
- "MPATH:25",
- "CHEBI:15693",
+ "PR:000064867",
+ "CHEBI:16670",
+ "HP:0012379",
+ "UPHENO:0081777",
+ "UPHENO:0075666",
+ "HP:0003155",
+ "PR:000000001",
+ "HP:0034684",
+ "CHEBI:36587",
+ "UPHENO:0046383",
+ "CHEBI:33285",
+ "CHEBI:36963",
+ "UPHENO:0051635",
+ "HP:6000531",
+ "PR:000018263",
+ "CHEBI:33582",
+ "CHEBI:33304",
+ "CHEBI:50860",
+ "PR:000003968",
+ "CHEBI:36962",
+ "CHEBI:25806",
+ "CHEBI:18133",
"CHEBI:35381",
- "HP:0030972",
"CHEBI:16646",
- "HP:0002597",
"CHEBI:78616",
- "CHEBI:72695",
- "HP:6000531",
+ "HP:0003076",
+ "GO:0003008",
+ "UPHENO:0049703",
+ "UPHENO:0051280",
+ "HP:0034359",
+ "GO:0070293",
+ "HP:0011038",
+ "HP:0001507",
+ "HP:0002748",
+ "GO:0001503",
+ "HP:0003330",
+ "HP:0002749",
+ "HP:0004349",
+ "UPHENO:0002964",
+ "HP:0011842",
+ "HP:0000924",
+ "GO:0032501",
+ "HP:0001510",
+ "UPHENO:0082835",
+ "UPHENO:0082834",
+ "HP:0011849",
+ "UBERON:0001434",
+ "UBERON:0002204",
+ "UBERON:0004765",
+ "UPHENO:0002559",
+ "UPHENO:0076692",
+ "UBERON:0001474",
+ "CHEBI:33559",
+ "CHEBI:33318",
+ "CHEBI:33521",
+ "CHEBI:24835",
+ "CHEBI:33250",
+ "HP:0025745",
+ "UPHENO:0034199",
+ "CHEBI:26216",
+ "UPHENO:0003047",
+ "CHEBI:36915",
+ "UPHENO:0069062",
+ "CHEBI:60242",
"CHEBI:33839",
+ "UPHENO:0079822",
+ "CHEBI:22314",
+ "UPHENO:0068971",
+ "HP:0000002",
+ "CHEBI:36916",
+ "UPHENO:0003432",
+ "UPHENO:0081544",
+ "HP:0003648",
+ "CHEBI:60004",
+ "CHEBI:59999",
+ "CHEBI:17234",
+ "UPHENO:0068511",
+ "UPHENO:0089294",
+ "CHEBI:33709",
+ "UBERON:0006314",
+ "CHEBI:28358",
+ "UPHENO:0069266",
+ "UPHENO:0005141",
+ "HP:0012072",
+ "UBERON:0000468",
+ "HP:0032943",
+ "CHEBI:60911",
+ "HP:0003109",
+ "UPHENO:0051686",
+ "HP:0003110",
+ "UPHENO:0002530",
"UBERON:0001088",
- "UBERON:0007798",
- "HP:0000079",
+ "UPHENO:0051709",
+ "UPHENO:0068110",
+ "UBERON:0000025",
"HP:0033354",
- "UPHENO:0002642",
- "HP:0003110",
- "CHEBI:36963",
- "UBERON:0000489",
- "UPHENO:0068110",
- "HP:0011277",
- "HP:0020129",
- "UBERON:0001231",
- "UPHENO:0089294",
- "UPHENO:0046383",
- "CHEBI:33304",
- "CHEBI:33582",
- "CHEBI:36962",
- "CHEBI:25806",
- "CHEBI:51143",
- "UPHENO:0004791",
- "CHEBI:16541",
- "UPHENO:0002442",
- "UBERON:0004122",
- "CHEBI:37622",
- "CHEBI:50047",
- "MPATH:597",
- "HP:0030878",
- "UBERON:0002049",
- "HP:0004360",
- "HP:0001995",
- "HP:0001942",
- "HP:0001941",
- "UBERON:0034944",
- "UBERON:0010912",
- "UBERON:0010707",
- "UPHENO:0031339",
- "UPHENO:0002585",
- "UBERON:0000479",
- "UPHENO:0003070",
- "UPHENO:0041226",
- "UPHENO:0031276",
- "UPHENO:0031323",
- "UPHENO:0031123",
- "UPHENO:0003430",
- "UPHENO:0002983",
- "UBERON:0005055",
- "UBERON:0002513",
- "UBERON:0010740",
- "MPATH:0",
- "UBERON:0004709",
- "HP:0100491",
- "HP:0001992",
- "CHEBI:33256",
- "UPHENO:0031166",
- "UPHENO:0086780",
- "HP:0040064",
- "UPHENO:0002832",
- "UPHENO:0002944",
- "UBERON:0002101",
- "UPHENO:0003227",
- "HP:0002979",
- "HP:0004918",
- "UPHENO:0002734",
- "UBERON:0000468",
- "UPHENO:0068565",
- "CHEBI:33241",
- "UPHENO:0002816",
- "UBERON:0005172",
- "HP:0002795",
- "UPHENO:0068054",
- "HP:0006530",
- "HP:0012211",
- "HP:0004348",
- "UPHENO:0002643",
- "HP:0002088",
- "GO:0032501",
- "UPHENO:0002988",
- "UBERON:0011249",
- "CHEBI:16670",
- "UBERON:0000170",
- "HP:0002086",
- "UPHENO:0002526",
- "UBERON:0002113",
- "UPHENO:0081544",
- "HP:0034669",
- "UBERON:0001558",
- "CHEBI:33675",
- "UPHENO:0002648",
- "HP:0000091",
- "UBERON:0002495",
- "UPHENO:0003065",
- "UPHENO:0075945",
- "UPHENO:0002754",
- "HP:0012252",
- "HP:0100529",
- "UPHENO:0086908",
- "GO:0008150",
- "UPHENO:0002426",
- "UBERON:0013522",
- "HP:0032943",
- "UBERON:0001015",
- "UBERON:0000065",
- "UPHENO:0002859",
- "CHEBI:32988",
- "UPHENO:0051686",
- "UPHENO:0002668",
- "UPHENO:0003015",
- "UBERON:0002103",
- "UPHENO:0068169",
- "BFO:0000002",
+ "UPHENO:0076703",
+ "UPHENO:0051645",
+ "UPHENO:0066925",
+ "UBERON:0005177",
+ "UBERON:0005090",
+ "UPHENO:0002385",
+ "UPHENO:0003941",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "UPHENO:0080555",
+ "UPHENO:0089770",
+ "HP:0000119",
+ "UPHENO:0081581",
"BFO:0000001",
- "HP:0002981",
- "CHEBI:24867",
- "UBERON:0004211",
- "UBERON:0002417",
- "CHEBI:33238",
- "HP:0000077",
- "UPHENO:0005214",
- "CHEBI:37577",
- "HP:0000924",
- "HP:0033127",
- "UPHENO:0003411",
- "HP:0000118",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0001002",
- "CHEBI:50860",
- "UPHENO:0002830",
+ "UBERON:0001008",
+ "UPHENO:0000543",
"UPHENO:0003413",
- "UPHENO:0002963",
+ "UPHENO:0002248",
+ "UPHENO:0068054",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "HP:0012599",
+ "UPHENO:0046283",
+ "UBERON:0002113",
"UPHENO:0003050",
+ "UPHENO:0002426",
+ "UPHENO:0081547",
+ "UPHENO:0002269",
+ "UPHENO:0002525",
+ "CHEBI:33579",
+ "HP:0012591",
"CHEBI:15841",
- "UBERON:0000075",
- "UPHENO:0031271",
- "UBERON:0001062",
- "HP:0001871",
- "UPHENO:0001001",
- "UPHENO:0046348",
- "UPHENO:0051804",
- "HP:0003076",
- "HP:0001939",
- "UPHENO:0084767",
- "UPHENO:0002385",
- "UBERON:0000463",
- "UBERON:0000061",
- "UPHENO:0075902",
- "CHEBI:23367",
- "UPHENO:0002530",
- "UPHENO:0002783",
- "UPHENO:0051739",
- "UPHENO:0002650",
+ "UPHENO:0066960",
+ "UBERON:0000064",
+ "UPHENO:0002252",
+ "HP:0100529",
+ "UBERON:0005173",
+ "HP:0010930",
+ "UBERON:0000475",
+ "UBERON:0000179",
+ "UPHENO:0002411",
+ "UPHENO:0066939",
+ "HP:0012211",
+ "UPHENO:0002427",
+ "CHEBI:37577",
+ "HP:0000077",
+ "UPHENO:0003025",
+ "UPHENO:0080352",
+ "UBERON:0000383",
+ "UPHENO:0002346",
+ "HP:0000079",
"CHEBI:24431",
- "GO:0042592",
+ "UPHENO:0002731",
+ "UPHENO:0051900",
+ "UPHENO:0066903",
+ "UPHENO:0002526",
+ "UPHENO:0002359",
+ "UPHENO:0003381",
+ "UPHENO:0002267",
+ "UPHENO:0084653",
+ "GO:0009987",
+ "UBERON:0007684",
+ "CHEBI:50047",
+ "UPHENO:0049587",
+ "UBERON:0004122",
+ "UPHENO:0003088",
+ "UBERON:0009773",
+ "HP:0011804",
+ "UBERON:0005172",
+ "UPHENO:0005201",
+ "UPHENO:0002531",
+ "UBERON:0000916",
+ "UBERON:0001231",
"UBERON:0002100",
- "UPHENO:0046284",
- "UBERON:0011676",
- "CHEBI:25367",
- "UPHENO:0003086",
- "UPHENO:0034253",
- "UBERON:0015061",
- "UPHENO:0002554",
- "UBERON:0013701",
- "UPHENO:0002636",
- "UBERON:0002193",
- "CHEBI:18133",
- "UBERON:0005178",
"UBERON:0011143",
- "UPHENO:0004418",
- "UBERON:0006314",
- "HP:0003355",
- "HP:0045051",
- "CHEBI:36359",
- "UPHENO:0003049",
- "BFO:0000040",
- "UBERON:0002390",
- "UPHENO:0002532",
- "UPHENO:0087433",
- "CHEBI:33302",
- "BFO:0000004",
- "UBERON:0005177",
- "CHEBI:26082",
- "UBERON:0004111",
- "UBERON:0004535",
- "HP:0011793",
- "UPHENO:0051709",
- "UPHENO:0076299",
- "HP:0002206",
- "GO:0008152",
- "UBERON:0000982",
- "HP:0040068",
- "UBERON:0002048",
- "UPHENO:0004505",
- "UBERON:0004288",
- "UPHENO:0076740",
- "UPHENO:0002949",
- "UPHENO:0003025",
- "UBERON:0004375",
- "UPHENO:0004503",
- "UPHENO:0076294",
- "HP:0002748",
- "UPHENO:0041258",
- "UPHENO:0041098",
- "UBERON:0004119",
- "UPHENO:0002536",
- "HP:0000822",
- "GO:0001503",
- "UPHENO:0031228",
- "CHEBI:33579",
- "BFO:0000003",
- "HP:0000001",
+ "UPHENO:0003430",
+ "UPHENO:0002422",
+ "UBERON:0001015",
+ "UPHENO:0002564",
+ "UPHENO:0068352",
+ "UPHENO:0002308",
+ "HP:0003126",
+ "UPHENO:0066959",
+ "UPHENO:3000004",
+ "UBERON:8450002",
+ "UPHENO:0002816",
+ "UPHENO:0002377",
+ "UPHENO:0002976",
+ "CHEBI:24651",
+ "CHEBI:36360",
+ "UPHENO:0002246",
+ "CHEBI:37622",
+ "UBERON:0013701",
+ "UBERON:0015212",
+ "UPHENO:0066913",
+ "HP:0010935",
+ "UPHENO:0002287",
+ "CHEBI:16541",
+ "HP:0002900",
+ "CHEBI:36914",
+ "HP:0010929",
+ "UBERON:0003914",
+ "UPHENO:0000541",
+ "UPHENO:0002909",
+ "CHEBI:24833",
+ "UBERON:0004111",
"UPHENO:0084654",
- "HP:0040156",
- "UBERON:0010758",
- "UBERON:0013702",
- "UBERON:0000915",
- "UPHENO:0051960",
- "HP:0003111",
- "HP:0002097",
- "UPHENO:0003799",
- "UBERON:0000064",
- "CHEBI:33259",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0003657",
- "UPHENO:0076692",
- "UBERON:0004905",
- "UBERON:0000171",
- "UPHENO:0002568",
- "UBERON:0034925",
- "CHEBI:24870",
- "UPHENO:0002634",
- "CHEBI:33709",
- "UPHENO:0076767",
- "UBERON:0001285",
- "PATO:0000001",
- "HP:0030078",
- "MPATH:1000",
- "HP:0011842",
- "UPHENO:0051763",
- "UBERON:0011582",
- "UBERON:0000072",
- "BFO:0000020",
- "UPHENO:0002525",
+ "UPHENO:0066921",
+ "HP:0011042",
"HP:0032180",
- "UPHENO:0066739",
- "CHEBI:35352",
- "UBERON:0005181",
- "UPHENO:0051635",
- "UPHENO:0001003",
- "HP:0025745",
- "HP:0002148",
- "UPHENO:0088582",
- "UPHENO:9002003",
"UBERON:0000062",
+ "UPHENO:0005285",
+ "HP:0011277",
+ "UPHENO:0002668",
+ "CHEBI:64709",
+ "GO:0042592",
+ "UBERON:0000489",
+ "BFO:0000015",
+ "HP:0000124",
+ "UBERON:0000178",
+ "UPHENO:0002568",
+ "CHEBI:23367",
"UPHENO:0004459",
- "UPHENO:0002411",
- "UPHENO:0049904",
- "CHEBI:26079",
- "HP:0030760",
- "UPHENO:0048707",
- "UBERON:0001005",
- "HP:0031980",
- "UBERON:0000025",
- "UBERON:0000916",
- "UPHENO:0004536",
- "UPHENO:0081581",
- "UBERON:0002471",
- "UPHENO:0003005",
- "UBERON:0000475",
+ "UPHENO:0002311",
+ "UPHENO:0002636",
+ "UPHENO:0002754",
+ "UPHENO:0051804",
+ "HP:0004379",
"UPHENO:0034351",
- "UPHENO:0031318",
- "UPHENO:0002678",
- "UBERON:0010363",
- "UPHENO:0002269",
- "UBERON:0001981",
- "UPHENO:0084653",
- "HP:0012337",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UBERON:0004765",
- "CHEBI:17234",
- "UPHENO:0080658",
- "UBERON:0004120",
- "UBERON:0002091",
- "MPATH:596",
- "UBERON:0001008",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0002448",
- "UPHENO:0084763",
- "CHEBI:33285",
- "UPHENO:0002870",
- "HP:0045049",
+ "UPHENO:0066943",
+ "CHEBI:15693",
+ "UPHENO:0051191",
+ "UBERON:0013702",
+ "CHEBI:33259",
+ "UPHENO:0024906",
+ "UBERON:0000479",
+ "CHEBI:51143",
+ "UPHENO:0003094",
+ "UPHENO:0075902",
+ "UBERON:0009569",
"CHEBI:36357",
- "UPHENO:0082834",
- "UBERON:0000477",
- "UBERON:0001004",
- "UPHENO:0003432",
- "UBERON:0003914",
+ "CHEBI:36586",
+ "UPHENO:0002536",
+ "UPHENO:0034253",
+ "CHEBI:33238",
+ "GO:0003014",
+ "UPHENO:0002532",
+ "UPHENO:0050106",
+ "CHEBI:33675",
+ "UPHENO:0051739",
+ "UPHENO:0004418",
"UBERON:0011216",
- "UPHENO:0002731",
- "HP:0004349",
+ "UPHENO:0075159",
+ "UBERON:0001285",
+ "UPHENO:0004503",
+ "CHEBI:33302",
+ "CHEBI:33241",
+ "HP:0002148",
+ "UBERON:0001062",
+ "CHEBI:26082",
+ "UPHENO:0005092",
+ "UPHENO:0076286",
+ "HP:0000118",
+ "UPHENO:0002832",
+ "UPHENO:0075195",
+ "GO:0008150",
+ "UPHENO:0002360",
+ "CHEBI:36359",
+ "UBERON:0011676",
+ "UPHENO:0066739",
+ "UPHENO:0080658",
+ "UPHENO:0002442",
+ "UBERON:0000483",
+ "UPHENO:0002859",
+ "UPHENO:0002554",
"UBERON:0000174",
- "CHEBI:36360",
+ "UPHENO:0002386",
+ "UPHENO:0069327",
+ "UBERON:0004211",
+ "HP:0001941",
+ "CHEBI:33917",
+ "CHEBI:26079",
+ "CHEBI:26020",
+ "UPHENO:0001002",
+ "HP:0004360",
+ "UBERON:0002193",
+ "UBERON:0000061",
+ "HP:0004348",
+ "CHEBI:24867",
+ "UPHENO:0089756",
"UBERON:0010000",
- "UBERON:0001474",
+ "UPHENO:0046284",
+ "UPHENO:0051763",
+ "UPHENO:0066927",
+ "HP:0003011",
+ "HP:0000001",
+ "UBERON:0002390",
+ "UPHENO:0066954",
+ "UPHENO:0066951",
+ "UPHENO:0048707",
+ "UPHENO:0046348",
+ "HP:0003111",
+ "UPHENO:0002963",
+ "HP:0033127",
+ "BFO:0000040",
+ "UBERON:0004819",
+ "HP:0001939",
+ "GO:0008152",
+ "UPHENO:0004505",
+ "UBERON:0006555",
+ "UPHENO:0001001",
+ "UPHENO:0082875",
+ "UBERON:0002417",
+ "UPHENO:0081423",
+ "UBERON:0000463",
+ "UPHENO:0066946",
+ "HP:0003355",
+ "UPHENO:0066964",
+ "CHEBI:24870",
+ "UPHENO:0066950",
+ "BFO:0000002",
+ "UPHENO:0004791",
+ "BFO:0000004",
+ "CHEBI:35352",
+ "HP:0001942",
+ "UPHENO:0002949",
+ "UBERON:0000465",
+ "UPHENO:0001003",
"UBERON:0003103",
- "UPHENO:0076703",
- "HP:0001969",
- "UPHENO:0005201",
- "UPHENO:0031220",
- "UPHENO:3000004",
- "UPHENO:0002976",
- "UPHENO:0002885",
- "HP:0004912",
- "HP:0011849",
- "UPHENO:0003066",
- "UBERON:0002075",
- "UPHENO:0003084",
- "UPHENO:0082835",
- "HP:0011844",
- "HP:0003330",
- "UBERON:8450002",
- "UBERON:0000383",
- "UBERON:0000179",
- "CHEBI:26020",
- "UPHENO:0002559",
- "UPHENO:0002964",
- "UBERON:0009569",
- "BFO:0000015",
- "UPHENO:0086628",
- "UBERON:0010712",
- "UBERON:0008784",
- "UPHENO:0002945",
- "UPHENO:0002574",
- "UPHENO:0041536",
- "UBERON:0010538",
- "UPHENO:0002377",
- "HP:0001367",
- "HP:0000119",
- "UPHENO:0002785",
- "UPHENO:0086635",
- "UPHENO:0076714",
- "HP:0002813",
- "UPHENO:0002750",
- "UBERON:0004769",
+ "HP:0012337",
+ "UPHENO:0051960",
+ "UPHENO:0002870",
+ "BFO:0000003",
"UBERON:0000467",
- "UBERON:0003840",
- "UPHENO:0031142",
- "UPHENO:0087993",
- "UPHENO:0002679",
- "HP:0006487",
- "UPHENO:0002600",
- "UBERON:0004708",
- "HP:0000940",
- "UBERON:0001465",
- "UPHENO:0080300",
- "HP:0012210",
- "UPHENO:0002896",
- "UBERON:0005173",
- "UBERON:0015212",
- "UBERON:0004381",
- "HP:0012072",
- "UBERON:0002428",
- "RO:0002577",
- "UPHENO:0031122",
- "UBERON:0034921",
- "HP:0010935",
- "UBERON:0000978",
- "UBERON:0005913",
- "UPHENO:0002406",
- "UPHENO:0002746",
- "UPHENO:0003812",
- "CHEBI:33917",
- "UPHENO:0002593",
- "UBERON:0010709",
- "UPHENO:0086956",
- "UPHENO:0002531",
- "UPHENO:0004909",
- "UBERON:0000178",
- "UPHENO:0002632",
- "UBERON:0002529",
- "UBERON:0003823",
- "UPHENO:0041591",
- "UBERON:0004770",
- "UBERON:0000154",
- "UBERON:0000026",
- "UPHENO:0003516",
- "UPHENO:0003095",
- "UPHENO:0076727",
- "HP:0002815",
- "UBERON:0006058",
- "UPHENO:0041573",
- "HP:0000093",
- "UPHENO:0075952",
- "CHEBI:33575",
- "UPHENO:0002861",
- "HP:0002814",
- "HP:0003774",
- "UPHENO:0002926",
- "UPHENO:0031302",
- "UPHENO:0002576",
- "HP:0002857",
- "UPHENO:0041610",
- "MPATH:31",
- "UPHENO:0087462",
- "HP:0011314"
+ "UBERON:0004120",
+ "UPHENO:0002210",
+ "UPHENO:0049904"
],
"has_phenotype_closure_label": [
- "Abnormality of the cardiovascular system",
- "vessel",
- "vascular system",
- "Increased blood pressure",
- "disconnected anatomical group",
- "organ physiology phenotype",
- "Stage 5 chronic kidney disease",
- "trunk region element physiology phenotype",
- "Abnormal renal physiology",
- "abdomen element physiology phenotype",
- "multicellular anatomical structure physiology phenotype",
- "Chronic kidney disease",
- "cavitated compound organ physiology phenotype",
- "Tubulointerstitial fibrosis",
- "renal system morphology phenotype",
- "epithelial tube phenotype",
- "Abnormal renal insterstitial morphology",
- "Abnormal tubulointerstitial morphology",
- "renal tubule",
- "kidney morphology phenotype",
- "nephron morphology phenotype",
- "epithelium",
- "Renal fibrosis",
- "abdomen element phenotype",
- "cavitated compound organ phenotype",
- "Abnormal renal morphology",
- "Abnormal nephron morphology",
- "nephron phenotype",
- "kidney epithelium phenotype",
- "Abnormal cardiovascular system physiology",
- "excretory tube",
- "cavitated compound organ",
- "abdominal segment element",
- "uriniferous tubule",
- "abdomen",
- "Abnormality of the upper urinary tract",
- "epithelial tube",
- "tissue",
- "Aciduria",
- "Abnormal urine pH",
- "carbonyl compound",
- "carbon oxoacid",
- "organic acid",
- "increased level of amino acid in urine",
- "amino acid level phenotype",
- "amino acid",
- "increased level of organic acid in urine",
- "Abnormal urine amino acid level",
- "carboxylic acid",
+ "Renal insufficiency",
+ "muscle structure",
+ "muscle structure phenotype",
+ "muscle structure physiology phenotype",
+ "decreased anatomical entity strength",
+ "Proteinuria",
+ "increased level of protein polypeptide chain in urine",
+ "macromolecule",
+ "anatomical entity height phenotype",
+ "delayed growth",
+ "Short stature",
+ "growth",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "decreased height of the multicellular organism",
+ "delayed biological_process",
+ "decreased size of the material anatomical entity",
+ "Growth abnormality",
"organic molecule",
- "hydrogen molecular entity",
- "hydroxides",
- "increased level of carboxylic acid in urine",
+ "muscle organ",
+ "increased level of organic acid in urine",
"oxoacid",
- "Neoplasm by anatomical site",
- "neoplasm phenotype",
- "Non-small cell lung carcinoma",
- "Neoplasm",
- "process of degenerative change",
- "cell and tissue damage process",
- "tissue specific degenerative process",
- "pathological phenotype observation",
- "glucose",
- "hexose",
- "monosaccharide",
+ "carbon oxoacid",
+ "carbonyl compound",
+ "s-block molecular entity",
+ "molecule",
+ "hydroxides",
+ "Growth delay",
+ "amino acid chain",
+ "organic amino compound",
+ "protein-containing molecular entity",
+ "Abnormality of alkaline phosphatase level",
+ "increased level of alkaline phosphatase, tissue-nonspecific isozyme",
+ "nitrogen molecular entity",
+ "Abnormal enzyme concentration or activity",
+ "nitrogen molecular entity level phenotype",
+ "Abnormal circulating enzyme concentration or activity",
"urine glucose level phenotype",
- "Glycosuria",
+ "carbohydrate",
+ "organochalcogen compound",
+ "organic molecular entity",
+ "organooxygen compound",
+ "glucose",
+ "chalcogen molecular entity",
"Abnormal urinary organic compound level",
- "abdominal segment of trunk",
- "excreta",
- "role urine level phenotype",
- "genitourinary system",
- "blood vessel",
- "macromolecule",
- "Abnormality of the urinary system physiology",
- "heteroorganic entity",
- "organonitrogen compound",
- "renal system",
- "urine",
- "circulatory system phenotype",
- "renal system physiology phenotype",
- "renal system phenotype",
- "primary amide",
+ "renal absorption phenotype",
+ "renal system process",
+ "system process",
+ "system process phenotype",
+ "Abnormal renal tubular resorption",
+ "anatomical entity morphology phenotype",
+ "musculature of body phenotype",
+ "musculoskeletal system phenotype",
+ "Abnormality of bone mineral density",
+ "Abnormal bone structure",
+ "Glycosuria",
+ "skeletal system",
+ "Aminoaciduria",
+ "musculature",
+ "increased level of carboxylic acid in urine",
+ "multicellular organismal process",
+ "Low-molecular-weight proteinuria",
+ "ossification",
+ "musculature of body",
+ "Decreased anatomical entity mass density",
+ "bone element phenotype",
+ "musculature phenotype",
+ "Abnormality of the skeletal system",
+ "Abnormal bone ossification",
+ "Decreased bone element mass density",
+ "potassium atom level phenotype",
"polypeptide",
- "genitourinary system phenotype",
- "Abnormality of urine homeostasis",
- "increased urine role level",
- "organic molecular entity",
- "anatomical cluster phenotype",
- "nitrogen molecular entity",
+ "role bodily fluid level phenotype",
+ "decreased level of potassium atom in blood",
+ "muscle organ physiology phenotype",
+ "Abnormal blood potassium concentration",
+ "Abnormal urine protein level",
+ "s-block element atom",
+ "main group element atom",
+ "aldose",
+ "skeletal system morphology phenotype",
+ "metal atom",
"protein polypeptide chain",
- "Abnormal DLCO",
- "Decreased DLCO",
- "tissue phenotype",
- "Abnormality on pulmonary function testing",
- "Metabolic acidosis",
- "Hyperchloremic acidosis",
- "Hyperchloremic metabolic acidosis",
- "Abnormality of the genitourinary system",
- "system",
- "material anatomical entity, curved phenotype",
- "skeletal joint morphology phenotype",
- "shape of continuant phenotype",
- "Bowing of the legs",
- "subdivision of skeletal system phenotype",
- "subdivision of skeletal system",
- "articular system",
- "appendicular skeleton phenotype",
- "appendage girdle complex",
- "aldose",
- "Abnormal diaphysis morphology",
- "bone of appendage girdle complex phenotype",
- "cardiovascular system",
- "limb bone morphology phenotype",
- "multi organ part structure phenotype",
- "skeletal joint phenotype",
- "Abnormal limb bone morphology",
+ "inorganic molecular entity",
+ "monovalent inorganic cation",
+ "blood monovalent inorganic cation level phenotype",
+ "primary amide",
+ "Rickets",
+ "blood potassium atom level phenotype",
+ "alkali metal atom",
+ "cation",
+ "inorganic ion",
+ "organic oxo compound",
+ "decreased role blood level",
+ "inorganic cation",
+ "Abnormal blood cation concentration",
+ "amino acid level phenotype",
+ "Aciduria",
+ "Abnormal urine pH",
+ "decreased size of the multicellular anatomical structure",
+ "mixture",
+ "chemical substance",
+ "musculoskeletal system",
+ "abdomen",
+ "increased urine role level",
+ "organ system subdivision phenotype",
+ "Abnormality of urine homeostasis",
+ "increased level of phosphate in urine",
+ "Metabolic acidosis",
+ "excreta",
+ "urine",
+ "urine phosphate level phenotype",
+ "anatomical entity mass density phenotype",
+ "Abnormal blood ion concentration",
+ "Abnormal urine phosphate concentration",
+ "subdivision of trunk phenotype",
+ "urine chemical entity level phenotype",
+ "genitourinary system phenotype",
+ "epithelium",
+ "trunk phenotype",
+ "abdomen element physiology phenotype",
+ "multicellular anatomical structure physiology phenotype",
+ "decreased functionality of the renal tubule",
+ "abdominal segment element phenotype",
+ "Hypokalemia",
+ "decreased functionality of the anatomical structure",
+ "lateral structure phenotype",
+ "multicellular organism height phenotype",
+ "blood cation level phenotype",
+ "upper urinary tract phenotype",
+ "excretory tube physiology phenotype",
+ "decreased level of phosphate in blood",
"nephron epithelium phenotype",
- "pelvic appendage phenotype",
- "appendage",
- "Abnormal renal tubule morphology",
- "posterior region of body",
- "long bone phenotype",
- "renal tubule phenotype",
- "organ",
- "knee",
- "increased level of chemical entity",
- "respiratory system morphology phenotype",
- "ion",
- "organochalcogen compound",
- "subdivision of trunk",
- "Abnormal systemic blood pressure",
+ "decreased functionality of the nephron tubule",
+ "nephron tubule",
+ "trunk",
+ "epithelial tube",
+ "molecular entity",
+ "anatomical structure physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased muscle organ strength",
+ "genitourinary system",
+ "compound organ physiology phenotype",
+ "carbon group molecular entity",
+ "metabolic process",
+ "epithelial tube physiology phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "kidney",
+ "role urine level phenotype",
+ "organ physiology phenotype",
+ "carbohydrates and carbohydrate derivatives",
+ "organ part",
+ "trunk region element",
+ "Abnormality of the urinary system",
+ "decreased size of the anatomical structure",
+ "kidney epithelium",
"main body axis",
- "musculature",
- "organism subdivision phenotype",
- "upper urinary tract phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
+ "growth phenotype",
+ "organism subdivision",
+ "organ system subdivision",
+ "Abnormality of the genitourinary system",
+ "subdivision of organism along main body axis phenotype",
+ "decreased functionality of the tube",
+ "cavitated compound organ phenotype",
+ "abdomen element",
+ "uriniferous tubule",
+ "upper urinary tract",
+ "Acidosis",
+ "nephron epithelium",
+ "Abnormal blood phosphate concentration",
+ "renal system",
+ "phosphate",
+ "excretory system",
+ "multicellular anatomical structure phenotype",
+ "anatomical entity dysfunction in independent continuant",
+ "material anatomical entity physiology phenotype",
+ "Lacticaciduria",
+ "organ part phenotype",
+ "kidney physiology phenotype",
+ "tube physiology phenotype",
+ "tissue physiology phenotype",
+ "lateral structure",
+ "epithelium phenotype",
+ "anatomical conduit physiology phenotype",
+ "Abnormal homeostasis",
+ "renal system phenotype",
+ "carboxamide",
+ "Abnormality of the musculoskeletal system",
+ "decreased functionality of the anatomical conduit",
+ "abdominal segment element physiology phenotype",
+ "skeletal element",
+ "increased level of chemical entity in urine",
+ "Abnormal urine amino acid level",
+ "protein",
"anatomical system physiology phenotype",
- "chemical entity level phenotype",
"anatomical entity physiology phenotype",
+ "peptide",
+ "cavitated compound organ",
+ "multicellular organismal process phenotype",
+ "abdominal segment element",
+ "kidney phenotype",
+ "renal tubule phenotype",
+ "compound organ phenotype",
+ "decreased functionality of the epithelial tube",
+ "tissue",
+ "decreased height of the anatomical entity",
+ "heteroorganic entity",
+ "abdomen element phenotype",
+ "epithelium physiology phenotype",
+ "oxygen molecular entity",
+ "multicellular organism",
+ "lateral structure physiology phenotype",
+ "nephron tubule phenotype",
+ "decreased functionality of the excretory tube",
"tube",
- "proximo-distal subdivision of respiratory tract",
- "thoracic cavity element",
- "Abnormal pulmonary interstitial morphology",
- "limb endochondral element phenotype",
- "limb skeleton subdivision phenotype",
- "lower respiratory tract",
- "pnictogen molecular entity",
- "Abnormality of lower limb joint",
- "anatomical entity morphology in the respiratory system phenotype",
- "subdivision of organism along main body axis",
+ "aldohexose",
+ "decreased level of chemical entity in blood",
+ "tissue phenotype",
+ "skeletal element phenotype",
+ "All",
+ "organism subdivision phenotype",
+ "trunk region element phenotype",
+ "monosaccharide",
+ "bodily fluid phenotype",
+ "trunk region element physiology phenotype",
+ "oxoacid derivative",
+ "anatomical system",
+ "kidney epithelium phenotype",
+ "tube phenotype",
+ "Abnormal renal physiology",
+ "Abnormal muscle physiology",
+ "anatomical conduit phenotype",
+ "decreased functionality of the kidney epithelium",
+ "Abnormal skeletal morphology",
+ "organism substance phenotype",
+ "Abnormal circulating metabolite concentration",
+ "renal system physiology phenotype",
+ "role blood level phenotype",
+ "decreased functionality of the epithelium",
+ "increased level of amino acid in urine",
+ "hydrogen molecular entity",
+ "chemical entity",
+ "anatomical structure phenotype",
+ "chemical entity level phenotype",
+ "Abnormality of the musculature",
+ "amino acid",
+ "Abnormal urinary electrolyte concentration",
+ "anatomical conduit",
+ "organic acid",
+ "taxon specific phenotype",
+ "organism substance",
+ "decreased level of chemical entity",
+ "occurrent",
+ "phosphate level phenotype",
+ "urine amino acid level phenotype",
+ "decreased functionality of the multicellular anatomical structure",
+ "bone element mass density phenotype",
"main group molecular entity",
- "abdomen element",
+ "elemental molecular entity",
+ "phosphorus molecular entity",
+ "abdominal segment of trunk",
+ "Abnormality of the urinary system physiology",
"material entity",
+ "monoatomic entity",
+ "body proper",
+ "Renal tubular dysfunction",
+ "renal/urinary system phenotype",
+ "biological_process",
+ "hematopoietic system phenotype",
+ "decreased size of the anatomical entity",
+ "multicellular organism phenotype",
+ "mesoderm-derived structure",
+ "excretory tube",
+ "Phenotypic abnormality",
+ "renal absorption",
+ "Reduced bone mineral density",
+ "heteroatomic molecular entity",
+ "anatomical entity phenotype",
+ "rac-lactic acid",
+ "organ",
+ "Muscle weakness",
+ "alkaline phosphatase, tissue-nonspecific isozyme level phenotype",
"Abnormality of the kidney",
- "hindlimb joint phenotype",
- "Abnormality of the urinary system",
- "compound organ phenotype",
- "skeleton",
- "organ phenotype",
- "abdominal segment element phenotype",
- "lung phenotype",
- "pair of lungs",
- "anatomical collection",
- "viscus phenotype",
- "thoracic cavity element phenotype",
- "haemolymphatic fluid phenotype",
- "respiration organ",
+ "phosphorus oxoacids and derivatives",
+ "bodily fluid",
"phosphoric acid derivative",
- "subdivision of tube",
- "bone element, curved phenotype",
- "increased level of monosaccharide in urine",
- "hindlimb morphology phenotype",
- "abdominal segment element physiology phenotype",
- "subdivision of organism along appendicular axis phenotype",
- "anatomical conduit",
- "oxoacid derivative",
- "kidney phenotype",
- "leg phenotype",
- "Abnormality of acid-base homeostasis",
- "mesoderm-derived structure phenotype",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "multi-limb segment region phenotype",
- "decreased level of phosphate in blood",
- "metabolic process",
- "hindlimb",
- "skeletal system phenotype",
- "monoatomic entity",
- "blood chemical entity level phenotype",
- "anatomical collection phenotype",
- "occurrent",
- "limb segment, curved phenotype",
- "nephron tubule",
- "organism substance",
- "appendage phenotype",
- "Proteinuria",
- "Abnormal blood phosphate concentration",
- "limb morphology phenotype",
- "lung morphology phenotype",
- "phosphate",
- "molecular entity",
- "lateral structure",
- "bone element mass density phenotype",
- "multicellular organism",
- "process",
- "subdivision of organism along main body axis phenotype",
- "vasculature",
- "tube phenotype",
- "Abnormality of bone mineral density",
- "Hypophosphatemia",
- "organooxygen compound",
- "subdivision of organism along appendicular axis, curved phenotype",
- "anatomical system phenotype",
- "carbon group molecular entity",
- "Abnormality of the musculoskeletal system",
- "zone of long bone",
- "multicellular organism morphology phenotype",
- "trunk region element phenotype",
- "cardiovascular system phenotype",
- "respiratory system phenotype",
+ "racemate",
+ "blood phosphate level phenotype",
"blood monoatomic ion level phenotype",
- "phenotypic effect",
- "respiration organ phenotype",
- "decreased level of chemical entity",
- "upper urinary tract",
- "anatomical entity",
- "homeostatic process",
- "Abnormal bone ossification",
- "anatomical structure",
- "nephron epithelium",
- "Abnormality of limb bone",
- "Abnormality of the lower limb",
- "organism subdivision",
- "homeostatic process phenotype",
- "limb endochondral element",
- "elemental molecular entity",
- "Abnormality of blood and blood-forming tissues",
- "Elevated urinary carboxylic acid",
- "nitrogen molecular entity level phenotype",
- "Abnormal blood ion concentration",
- "lower limb segment",
- "taxon specific phenotype",
- "bodily fluid",
- "heteroatomic molecular entity",
- "All",
- "Abnormal urine protein level",
- "organ system subdivision phenotype",
- "anatomical entity fibrosis",
- "skeletal element",
- "lung",
- "Rickets",
- "respiratory tract",
- "endochondral bone phenotype",
- "organ part",
- "Abnormal urine carboxylic acid level",
- "Reduced bone mineral density",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "amide",
- "phosphorus oxoacid derivative",
"increased level of glucose in urine",
- "anatomical entity morphology phenotype",
- "skeleton phenotype",
- "lung fibrosis",
- "continuant",
- "Organic aciduria",
- "blood phosphate level phenotype",
- "Emphysema",
- "thoracic segment organ",
- "viscus",
- "organ system subdivision",
- "shape long bone",
- "decreased level of chemical entity in blood",
- "phosphate level phenotype",
- "monoatomic ion",
- "zeugopod",
- "musculoskeletal system phenotype",
- "hindlimb phenotype",
- "cardiovascular system physiology phenotype",
- "Abnormal urine metabolite level",
- "oxygen molecular entity",
- "polyatomic entity",
- "anatomical cluster",
- "material anatomical entity physiology phenotype",
"hematopoietic system",
+ "carboxylic acid",
+ "renal system process phenotype",
+ "monoatomic ion",
+ "blood chemical entity level phenotype",
"haemolymphatic fluid",
- "increased level of chemical entity in urine",
- "skeletal element phenotype",
- "thoracic segment of trunk",
- "shape anatomical entity",
- "Neoplasm of the lung",
- "specifically dependent continuant",
- "kidney physiology phenotype",
- "diaphysis",
- "molecule",
- "trunk",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "anatomical system",
- "zone of organ",
- "quality",
- "leg",
- "chemical entity",
- "s-block molecular entity",
- "multicellular organism phenotype",
- "anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "carbohydrates and carbohydrate derivatives",
- "subdivision of tube phenotype",
- "limb bone",
- "organism substance phenotype",
- "subdivision of skeleton",
- "material anatomical entity",
- "appendicular skeletal system",
- "epithelium phenotype",
- "anatomical structure, curved phenotype",
- "aldohexose",
- "phosphorus oxoacids and derivatives",
- "trunk phenotype",
- "Lung adenocarcinoma",
- "pelvic appendage",
- "bodily fluid phenotype",
- "Abnormality of limbs",
+ "size of anatomical entity phenotype",
+ "potassium atom",
+ "blood",
+ "decreased size of the multicellular organism",
+ "p-block molecular entity",
+ "decreased functionality of the material anatomical entity",
+ "epithelial tube phenotype",
+ "Hyperphosphaturia",
+ "mesoderm-derived structure phenotype",
+ "nephron phenotype",
+ "subdivision of trunk",
"hemolymphoid system",
- "Renal insufficiency",
- "organ, curved phenotype",
- "Abnormal circulating metabolite concentration",
- "limb",
- "independent continuant",
- "entity",
- "body proper",
- "excretory system",
+ "Hypophosphatemia",
+ "cellular process",
+ "haemolymphatic fluid phenotype",
+ "ion",
"biological_process phenotype",
- "Aminoaciduria",
- "hindlimb zeugopod",
- "Abnormality of the vasculature",
- "multicellular anatomical structure",
- "blood",
- "pelvic complex",
- "endoderm-derived structure",
- "anatomical entity phenotype",
- "Neoplasm of the respiratory system",
- "urine chemical entity level phenotype",
- "Abnormal respiratory system physiology",
- "multicellular organism chemical entity level phenotype",
- "trunk region element",
- "carboxamide",
+ "Elevated circulating alkaline phosphatase concentration",
"compound organ",
- "respiratory system physiology phenotype",
- "respiratory system",
- "respiratory airway",
- "Abnormality of the respiratory system",
- "biological_process",
- "thoracic segment organ phenotype",
- "lateral structure phenotype",
- "paired limb/fin segment",
- "anatomical conduit phenotype",
- "articulation",
- "Pulmonary fibrosis",
- "subdivision of trunk phenotype",
- "hindlimb joint",
- "carbohydrate",
- "skeletal system",
- "curved anatomical entity",
- "Abnormality of the skeletal system",
- "curvature anatomical entity",
- "bone element phenotype",
- "zeugopod, curved phenotype",
- "Decreased anatomical entity mass density",
- "proximo-distal subdivision of respiratory tract phenotype",
- "Decreased bone element mass density",
- "musculature of body phenotype",
- "phosphorus molecular entity",
- "musculature phenotype",
- "Abnormal bone structure",
- "skeletal system morphology phenotype",
- "excretory tube phenotype",
- "paired limb/fin segment phenotype",
- "Abnormal homeostasis",
- "p-block molecular entity",
- "bone element",
- "musculature of body",
- "Abnormality of the knee",
- "Bowing of the long bones",
- "Abnormal skeletal morphology",
- "Hypertension",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
+ "alkaline phosphatase, tissue-nonspecific isozyme",
+ "multicellular anatomical structure",
"blood phenotype",
- "multicellular organismal process",
- "renal/urinary system phenotype",
- "curved long bone",
- "lateral structure physiology phenotype",
- "Hypophosphatemic rickets",
- "anatomical entity mass density phenotype",
- "musculoskeletal system",
- "limb segment",
- "Abnormal respiratory system morphology",
- "ossification",
- "zeugopod phenotype",
- "limb bone phenotype",
- "anatomical entity morphology in the pelvic complex phenotype",
- "nephron",
+ "increased level of chemical entity",
+ "organonitrogen compound",
+ "increased level of monosaccharide in urine",
+ "Impaired renal tubular reabsorption of phosphate",
+ "phosphorus oxoacid derivative",
+ "Abnormality of acid-base homeostasis",
+ "muscle organ phenotype",
+ "entity",
"material anatomical entity phenotype",
- "paired limb/fin",
- "skeleton of limb phenotype",
- "hindlimb zeugopod morphology phenotype",
- "organ part phenotype",
- "organism subdivision, curved phenotype",
- "multi organ part structure",
- "chalcogen molecular entity",
- "zone of bone organ",
- "compound organ physiology phenotype",
- "nephron tubule morphology phenotype",
- "articulation phenotype",
- "skeletal joint",
- "subdivision of organism along appendicular axis",
- "nephron tubule phenotype",
- "lower limb segment, curved phenotype",
- "organic oxo compound",
- "increased level of protein polypeptide chain in urine",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "long bone",
- "limb segment phenotype",
- "limb joint",
- "pathological process",
- "skeletal element, curved phenotype",
- "knee morphology phenotype",
- "endochondral bone",
- "lower limb segment phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "bone of free limb or fin",
- "vasculature phenotype",
- "urine amino acid level phenotype",
- "Abnormal knee morphology",
- "blood vasculature",
- "organic amino compound",
- "paired limb/fin segment, curved phenotype",
- "skeleton of limb",
- "shape hindlimb zeugopod",
- "peptide",
- "Acidosis",
+ "subdivision of organism along main body axis",
+ "process",
+ "decreased functionality of the nephron epithelium",
+ "polyatomic entity",
+ "pnictogen molecular entity",
+ "atom",
+ "excretory tube phenotype",
+ "increased level of rac-lactic acid in urine",
+ "anatomical system phenotype",
+ "Abnormal urine metabolite level",
+ "continuant",
+ "decreased functionality of the anatomical entity",
+ "renal tubule",
+ "anatomical entity",
+ "amide",
+ "hexose",
+ "phenotypic effect",
+ "decreased functionality of the tissue",
+ "anatomical structure",
+ "multicellular organism chemical entity level phenotype",
+ "multicellular organism morphology phenotype",
+ "independent continuant",
+ "bone element",
+ "homeostatic process phenotype",
"phenotype",
- "hindlimb zeugopod phenotype",
- "Genu valgum",
- "multi-limb segment region",
- "kidney epithelium morphology phenotype",
- "endochondral element",
- "paired limb/fin phenotype",
- "circulatory system",
- "Abnormal lung morphology",
- "curved hindlimb zeugopod",
- "Abnormal joint morphology",
- "kidney epithelium",
- "emphysema",
- "Abnormality of the calf",
- "knee phenotype",
- "bone of appendage girdle complex",
- "Abnormal long bone morphology",
- "endochondral element phenotype",
- "long bone morphology phenotype",
- "endoderm-derived structure phenotype",
- "paired limb/fin skeleton",
- "kidney",
- "multicellular anatomical structure, curved phenotype"
+ "Osteomalacia",
+ "organ phenotype",
+ "Abnormal blood monovalent inorganic cation concentration",
+ "homeostatic process",
+ "skeletal system phenotype",
+ "nephron",
+ "material anatomical entity"
],
- "has_phenotype_count": 14,
+ "has_phenotype_count": 16,
+ "highlight": null,
+ "score": null
+ },
+ {
+ "id": "MONDO:0100238",
+ "category": "biolink:Disease",
+ "name": "inherited Fanconi renotubular syndrome",
+ "full_name": null,
+ "deprecated": null,
+ "description": "An instance of Fanconi renotubular syndrome that is inherited.",
+ "xref": ["OMIMPS:134600"],
+ "provided_by": "phenio_nodes",
+ "in_taxon": null,
+ "in_taxon_label": null,
+ "symbol": null,
+ "synonym": ["hereditary Fanconi renotubular syndrome"],
+ "uri": null,
+ "iri": null,
+ "namespace": "MONDO",
+ "has_phenotype": null,
+ "has_phenotype_label": null,
+ "has_phenotype_closure": null,
+ "has_phenotype_closure_label": null,
+ "has_phenotype_count": 0,
"highlight": null,
"score": null
},
@@ -9682,8 +9387,12 @@
"name": "Renal Fanconi syndrome",
"full_name": null,
"deprecated": null,
- "description": null,
- "xref": null,
+ "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.",
+ "xref": [
+ "SNOMEDCT_US:236468006",
+ "SNOMEDCT_US:44673006",
+ "UMLS:C0341703"
+ ],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
@@ -9704,7368 +9413,8340 @@
"score": null
},
{
- "id": "MONDO:0012186",
+ "id": "MONDO:0011584",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group I",
+ "name": "Fanconi anemia complementation group D1",
"full_name": null,
"deprecated": null,
- "description": "Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.",
+ "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.",
"xref": [
- "DOID:0111091",
- "GARD:15448",
- "MEDGEN:323016",
- "MESH:C563802",
- "NCIT:C129026",
- "OMIM:609053",
- "UMLS:C1836861"
+ "DOID:0111089",
+ "GARD:17449",
+ "MEDGEN:325420",
+ "MESH:C563980",
+ "NCIT:C125705",
+ "OMIM:605724",
+ "Orphanet:319462",
+ "SCTID:766707003",
+ "UMLS:C1838457"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCI",
- "Fanconi Anemia, complementation Group 1",
- "Fanconi Anemia, complementation group type 1",
- "Fanconi anaemia complementation group type I",
- "Fanconi anemia complementation group I",
- "Fanconi anemia complementation group type I",
- "Fanconi anemia, complementation group I"
+ "FAD1",
+ "FANCD1",
+ "Fad1",
+ "Fanconi anemia complementation group D1",
+ "Fanconi anemia, complementation group D1",
+ "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001655",
- "HP:0001875",
- "HP:0000325",
- "HP:0000545",
- "HP:0002984",
- "HP:0002247",
- "HP:0003974",
- "HP:0001873",
"HP:0009778",
- "HP:0001631",
- "HP:0000543",
- "HP:0001511",
- "HP:0000405",
- "HP:0009777",
- "HP:0000568",
- "HP:0000821",
- "HP:0002308",
- "HP:0002949",
- "HP:0000609",
- "HP:0034323",
- "HP:0000470",
- "HP:0001263",
- "HP:0003221",
- "HP:0030048",
- "HP:0000076",
- "HP:0000252",
- "HP:0000413",
- "HP:0001643",
"HP:0005528",
- "HP:0030680",
+ "HP:0001511",
+ "HP:0004808",
"HP:0000957",
- "HP:0001903",
- "HP:0001629",
- "HP:0010034",
- "HP:0012210",
- "HP:0012506",
- "HP:0000085",
- "HP:0001274",
+ "HP:0003221",
+ "HP:0001508",
"HP:0004322",
- "HP:0000089",
- "HP:0000365",
- "HP:0000483",
- "HP:0004325",
- "HP:0001331",
- "HP:0005528"
+ "HP:0006727",
+ "HP:0002023",
+ "HP:0000252"
],
"has_phenotype_label": [
- "Patent foramen ovale",
- "Neutropenia",
- "Triangular face",
- "Myopia",
- "Hypoplasia of the radius",
- "Duodenal atresia",
- "Absent radius",
- "Thrombocytopenia",
"Short thumb",
- "Atrial septal defect",
- "Optic disc pallor",
- "Intrauterine growth retardation",
- "Conductive hearing impairment",
- "Absent thumb",
- "Microphthalmia",
- "Hypothyroidism",
- "Chiari malformation",
- "Fused cervical vertebrae",
- "Optic nerve hypoplasia",
- "Reduced circulating growth hormone concentration",
- "Short neck",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents",
- "Colpocephaly",
- "Vesicoureteral reflux",
- "Microcephaly",
- "Atresia of the external auditory canal",
- "Patent ductus arteriosus",
"Bone marrow hypocellularity",
- "Abnormal cardiovascular system morphology",
+ "Intrauterine growth retardation",
+ "Acute myeloid leukemia",
"Cafe-au-lait spot",
- "Anemia",
- "Ventricular septal defect",
- "Short 1st metacarpal",
- "Abnormal renal morphology",
- "Small pituitary gland",
- "Horseshoe kidney",
- "Agenesis of corpus callosum",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Failure to thrive",
"Short stature",
- "Renal hypoplasia",
- "Hearing impairment",
- "Astigmatism",
- "Decreased body weight",
- "Absent septum pellucidum",
- "Bone marrow hypocellularity"
+ "T-cell acute lymphoblastic leukemias",
+ "Anal atresia",
+ "Microcephaly"
],
"has_phenotype_closure": [
- "UPHENO:0002563",
- "UPHENO:0002872",
- "UPHENO:0002921",
- "UPHENO:0008831",
- "UPHENO:0026187",
- "UPHENO:0025610",
- "UPHENO:0011938",
- "UPHENO:0026263",
- "UPHENO:0002565",
- "UPHENO:0009312",
- "UPHENO:0011517",
- "UPHENO:0026588",
- "UBERON:0000119",
- "UBERON:0003528",
- "UPHENO:0025954",
- "UPHENO:0026796",
- "UBERON:0000957",
- "UBERON:0002020",
- "UPHENO:0010799",
- "HP:0004325",
- "UPHENO:0054304",
+ "UPHENO:0075804",
+ "HP:0007364",
+ "UPHENO:0087907",
+ "HP:0000152",
+ "UPHENO:0076702",
+ "UPHENO:0004523",
+ "HP:0000234",
+ "HP:0100547",
+ "UPHENO:0076799",
+ "UPHENO:0003001",
+ "UBERON:0013701",
+ "UBERON:0011676",
+ "UBERON:0000481",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UBERON:0011137",
+ "UBERON:0013702",
+ "UPHENO:0002553",
+ "UPHENO:0004802",
+ "UPHENO:0004521",
+ "UPHENO:0003025",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0012639",
+ "HP:0009121",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0003129",
+ "HP:0000240",
+ "UPHENO:0086589",
+ "HP:0002060",
+ "UBERON:0000033",
+ "UBERON:0005944",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "NCBITaxon:131567",
+ "UPHENO:0080200",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "UPHENO:3000000",
+ "NCBITaxon:33154",
+ "UPHENO:0063596",
+ "HP:0025033",
+ "UPHENO:0074229",
+ "HP:0034915",
+ "UPHENO:0063558",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "GO:0005623",
+ "UPHENO:0074230",
+ "UPHENO:0076803",
+ "HP:0004378",
+ "UBERON:0001007",
+ "UPHENO:0002554",
+ "UPHENO:0074227",
+ "UPHENO:0074245",
+ "UPHENO:0002839",
+ "HP:0006721",
+ "HP:0011355",
+ "UPHENO:0069254",
+ "UPHENO:0080351",
+ "UPHENO:0081424",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0005431",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
"UPHENO:0010795",
- "UPHENO:0054315",
- "UPHENO:0054374",
- "UBERON:0010313",
- "UPHENO:0031228",
- "UPHENO:0031123",
- "UPHENO:0031179",
- "UPHENO:0031194",
- "UPHENO:0041098",
- "UPHENO:0004764",
- "UPHENO:0031144",
- "HP:0000481",
- "UPHENO:0031206",
- "UPHENO:0041591",
- "UPHENO:0041079",
- "UPHENO:0031226",
- "UBERON:0010409",
- "UBERON:0001801",
- "UBERON:0000964",
- "UPHENO:0087597",
- "UPHENO:0031227",
- "UPHENO:0087577",
- "UPHENO:0031124",
- "UPHENO:0087232",
- "UPHENO:0031129",
- "UPHENO:0041037",
- "UPHENO:0041053",
- "HP:0000089",
- "HP:0008678",
- "UPHENO:0080352",
- "UPHENO:0069254",
- "HP:0000002",
- "UPHENO:0075159",
- "HP:0004322",
- "UBERON:0001869",
- "UPHENO:0002784",
- "UPHENO:0025935",
- "UPHENO:0011556",
- "UPHENO:0008598",
- "HP:0004323",
- "UBERON:0005970",
- "UPHENO:0087032",
- "UPHENO:0002997",
- "UPHENO:0002834",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "UPHENO:0010763",
"UPHENO:0082794",
- "HP:0033725",
- "UPHENO:0011567",
- "UBERON:0000446",
- "UBERON:0000454",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0009056",
- "UPHENO:0025363",
- "UPHENO:0008925",
- "UPHENO:0087531",
- "UPHENO:0011557",
- "HP:0001273",
- "UPHENO:0011580",
- "UPHENO:0025368",
- "UBERON:0002437",
- "UBERON:0002473",
- "UBERON:0005340",
- "UPHENO:0008838",
- "UPHENO:0081562",
- "UPHENO:0011545",
- "UPHENO:0085804",
- "UPHENO:0026211",
- "UBERON:0007702",
- "UBERON:0001020",
- "UPHENO:0011549",
- "HP:0007370",
- "UPHENO:0002873",
- "UPHENO:0085805",
- "UPHENO:0011515",
- "UPHENO:0002811",
- "HP:0012429",
- "UPHENO:0076807",
- "UBERON:0011299",
- "UPHENO:0081424",
- "UBERON:0019294",
- "UBERON:0002316",
- "UBERON:0001018",
- "UPHENO:0026388",
- "UPHENO:0025599",
- "UPHENO:0008483",
- "UPHENO:0009064",
- "UPHENO:0011553",
- "UPHENO:0041226",
- "UPHENO:0041465",
- "UBERON:0011300",
- "HP:0100542",
- "UPHENO:0041629",
- "UPHENO:0080300",
- "UBERON:0000007",
- "UBERON:0001894",
- "UPHENO:0069251",
- "UPHENO:0003055",
- "UPHENO:0069370",
- "UPHENO:0002523",
- "UPHENO:0086735",
- "UPHENO:0068967",
- "HP:0012504",
- "UPHENO:0068824",
- "UPHENO:0002685",
- "UBERON:0003296",
- "HP:0000078",
- "UBERON:0004092",
- "UPHENO:0069067",
- "UPHENO:0087547",
- "UPHENO:0088065",
- "UPHENO:0087516",
- "UBERON:0003937",
- "HP:0012503",
- "UPHENO:0003016",
- "HP:0000864",
- "UPHENO:0069190",
- "UPHENO:0075995",
- "UPHENO:0087427",
- "UPHENO:0002803",
- "UPHENO:0075203",
- "UBERON:0000916",
- "UPHENO:0003094",
- "UPHENO:0002638",
- "UPHENO:0002601",
- "UBERON:0002374",
- "UBERON:0003821",
- "UBERON:0005897",
- "UPHENO:0002898",
- "UPHENO:0002950",
- "HP:0005916",
- "UPHENO:0069476",
- "HP:0009658",
- "UPHENO:0002756",
- "HP:0004328",
- "UPHENO:0002845",
- "UPHENO:0046408",
- "UPHENO:0046467",
- "UPHENO:0084447",
- "UPHENO:0069518",
- "UPHENO:0002612",
- "UPHENO:0069555",
- "HP:0009602",
- "UBERON:0015024",
- "UBERON:0011250",
- "UPHENO:0046541",
- "HP:0005914",
- "UPHENO:0046762",
- "UPHENO:0002881",
- "UPHENO:0046450",
- "UBERON:0015063",
- "UBERON:5106048",
- "UBERON:0010688",
- "UPHENO:0002938",
- "UPHENO:0080083",
- "UBERON:0004249",
- "UPHENO:0002899",
- "UPHENO:0084458",
- "UPHENO:0076779",
- "UPHENO:0046657",
- "UPHENO:0046685",
- "UBERON:0010546",
- "UBERON:5102544",
- "UBERON:0010543",
- "UBERON:0012150",
- "UPHENO:0046417",
- "UPHENO:0002752",
- "UPHENO:0002917",
- "UBERON:0012430",
- "UPHENO:0046656",
- "UPHENO:0046661",
- "UBERON:0003620",
- "UBERON:0013581",
- "UBERON:0012358",
- "UBERON:0009877",
- "UPHENO:0046522",
- "UPHENO:0080160",
- "UPHENO:0080168",
- "UBERON:0019264",
- "HP:0001713",
- "UPHENO:0002613",
- "UPHENO:0086854",
- "UPHENO:0033604",
- "HP:0001629",
- "UPHENO:0086866",
- "UPHENO:0003828",
- "UBERON:0002094",
- "UPHENO:0087415",
- "HP:0001877",
- "HP:0001903",
- "UPHENO:0088170",
- "CL:0000764",
- "CL:0000232",
- "CL:0000329",
- "UPHENO:0088162",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0074584",
- "HP:0000953",
+ "UPHENO:0082761",
+ "UPHENO:0053208",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
+ "UPHENO:0004704",
+ "UPHENO:0050126",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UBERON:0004381",
+ "GO:0042592",
+ "UPHENO:0063565",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "GO:0010556",
+ "CL:0002092",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0050040",
+ "UPHENO:0054315",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:5001463",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
"UPHENO:0076739",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0011355",
- "UPHENO:0080662",
+ "UPHENO:0063594",
+ "UPHENO:0010808",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "HP:0001034",
+ "UPHENO:0002635",
+ "UPHENO:0003811",
+ "HP:0002977",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
"HP:0012733",
+ "UBERON:0010707",
"HP:0001574",
- "GO:0043473",
- "HP:0000951",
+ "UPHENO:0002648",
+ "HP:0004325",
"UBERON:0002416",
- "UPHENO:0054970",
- "UPHENO:0003019",
- "UPHENO:0004405",
- "UPHENO:0033581",
- "UPHENO:0004457",
- "UPHENO:0033593",
- "UBERON:0000055",
- "HP:0033353",
- "HP:0002597",
- "UPHENO:0003012",
- "HP:0001643",
- "UBERON:0003133",
- "UPHENO:0087186",
- "UPHENO:0076729",
- "UPHENO:0015331",
- "UPHENO:0002678",
- "UPHENO:0002804",
- "UPHENO:0087309",
- "UPHENO:0087018",
- "UBERON:0018674",
- "UBERON:0001637",
- "UPHENO:0033602",
- "UPHENO:0033599",
- "UPHENO:0005134",
- "UBERON:0004537",
- "UBERON:0002201",
- "UBERON:0003498",
- "UBERON:0004572",
- "UBERON:0011695",
- "UBERON:0004716",
- "UPHENO:0033598",
- "HP:0009660",
- "UPHENO:0080164",
- "UPHENO:0002916",
- "UPHENO:0033579",
- "UBERON:0007798",
- "UPHENO:0033580",
- "UPHENO:0003031",
- "UPHENO:0033603",
- "UPHENO:0002869",
- "UBERON:0001691",
- "UPHENO:0063596",
- "UPHENO:0033609",
- "UPHENO:0074348",
- "UPHENO:0076941",
- "UPHENO:0074227",
- "UPHENO:0063645",
- "UBERON:0001352",
- "UPHENO:0008678",
- "UPHENO:0025547",
- "UPHENO:0026097",
- "UPHENO:0046624",
- "HP:0009825",
- "UPHENO:0008604",
- "UPHENO:0026640",
- "UPHENO:0025136",
- "UPHENO:0026128",
- "UPHENO:0050435",
- "UPHENO:0026811",
- "UPHENO:0009399",
- "UPHENO:0026023",
- "UPHENO:0081451",
- "UPHENO:0076765",
- "UBERON:0034925",
- "HP:0005918",
- "UPHENO:0025955",
- "GO:0050789",
- "UBERON:0013702",
- "UPHENO:0008865",
- "UBERON:0002104",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "HP:0040064",
+ "UBERON:0002097",
+ "HP:0000953",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UBERON:5006048",
+ "UBERON:0004121",
+ "HP:0004323",
+ "UPHENO:0074584",
+ "CL:0008001",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "CL:0000988",
+ "CL:0000219",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "CL:0002191",
+ "HP:0001881",
+ "GO:0007275",
+ "CL:0002242",
+ "HP:0001909",
+ "UBERON:0004111",
+ "HP:0032251",
+ "HP:0010987",
+ "HP:0004377",
+ "UPHENO:0050068",
+ "HP:0002023",
+ "UPHENO:0050034",
+ "UPHENO:0052178",
+ "HP:0025031",
+ "UPHENO:0052694",
+ "HP:0000957",
+ "BFO:0000015",
+ "UPHENO:0086644",
+ "UPHENO:0053456",
+ "UPHENO:0049587",
+ "UPHENO:0050008",
+ "UPHENO:0005433",
+ "UPHENO:0079876",
+ "GO:0048856",
+ "HP:0002664",
"UPHENO:0046505",
- "UPHENO:0011533",
- "UPHENO:0026074",
- "UPHENO:0008686",
- "GO:0060255",
- "UBERON:0002417",
- "UPHENO:0026096",
- "UPHENO:0025546",
- "UPHENO:0009366",
- "UPHENO:0025509",
- "UPHENO:0008703",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UPHENO:0011492",
- "HP:0002011",
- "UPHENO:0025808",
- "HP:0001671",
- "UPHENO:0005029",
- "UPHENO:0025883",
- "CL:0000775",
+ "GO:0032502",
"UPHENO:0076805",
- "UPHENO:0026808",
- "UPHENO:0026239",
- "UPHENO:0082761",
- "UPHENO:0069272",
- "UBERON:0013522",
- "UPHENO:0002949",
- "UPHENO:0054957",
- "HP:0025033",
- "UPHENO:0084820",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UBERON:0000160",
- "UPHENO:0002764",
- "UPHENO:0076755",
- "UPHENO:0011536",
- "UPHENO:0002586",
- "UPHENO:0087334",
- "UPHENO:0026506",
- "HP:0003117",
- "UBERON:0002114",
- "UBERON:0015042",
- "UPHENO:0002988",
- "UBERON:0004111",
- "UPHENO:0075219",
- "UBERON:0001130",
+ "GO:0032501",
+ "UBERON:0002405",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "GO:0043473",
+ "UPHENO:0050106",
"UPHENO:0076703",
- "UPHENO:0078089",
- "UPHENO:0081594",
- "UPHENO:0004595",
- "BFO:0000020",
- "UPHENO:0086173",
- "UBERON:0002285",
- "UPHENO:0002994",
- "UBERON:0012357",
- "UPHENO:0002652",
- "UBERON:0004921",
+ "UPHENO:0002812",
+ "UPHENO:0002844",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "HP:0000929",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "UPHENO:0002833",
+ "UPHENO:0001003",
"UPHENO:0053330",
- "UBERON:0000020",
- "GO:0030252",
- "UBERON:0001007",
- "UPHENO:0002303",
- "UPHENO:0031142",
- "UPHENO:0025587",
- "HP:0002247",
- "HP:0030962",
- "UPHENO:0002689",
- "UPHENO:0088020",
- "UPHENO:0002377",
- "UBERON:0005409",
- "UBERON:0003103",
- "UPHENO:0003952",
- "UPHENO:0074228",
- "UPHENO:0063558",
+ "UPHENO:0063577",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "HP:0001507",
+ "UPHENO:0004459",
+ "UBERON:0002371",
+ "BFO:0000003",
+ "HP:0012145",
+ "HP:0001871",
+ "UPHENO:0087123",
+ "UPHENO:0088166",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0005528",
+ "UPHENO:0076727",
+ "UBERON:0004120",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0002525",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UBERON:0001062",
+ "UBERON:0000479",
+ "UBERON:0000073",
+ "HP:0001508",
+ "UPHENO:0069684",
+ "UPHENO:0046483",
+ "HP:0011844",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "GO:0008152",
+ "HP:0001939",
+ "UBERON:0012141",
+ "UPHENO:0002963",
+ "UBERON:0001440",
+ "UPHENO:0002764",
+ "HP:0007400",
+ "CL:0000839",
+ "CL:0001035",
+ "UBERON:0004375",
+ "HP:0033127",
+ "UBERON:0002101",
+ "BFO:0000040",
+ "UBERON:0008785",
"UPHENO:0001002",
- "UPHENO:0002239",
- "HP:0002973",
- "UPHENO:0063569",
- "HP:0002246",
- "UPHENO:0086863",
- "UPHENO:0005097",
- "UBERON:0010230",
- "UPHENO:0069125",
- "UPHENO:0074229",
- "HP:0030048",
- "GO:0050877",
- "UPHENO:0009020",
- "UBERON:0003607",
- "UPHENO:0063586",
+ "UPHENO:0050007",
+ "UBERON:0000061",
+ "UPHENO:0063562",
+ "UPHENO:0088186",
+ "BFO:0000001",
+ "UPHENO:0081581",
+ "UPHENO:0054304",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0002782",
+ "UPHENO:0002530",
+ "UBERON:0011138",
+ "UBERON:0000062",
+ "UPHENO:0002945",
+ "UBERON:0010538",
+ "UPHENO:0081423",
+ "UPHENO:0003095",
+ "UPHENO:0002708",
+ "UPHENO:0002536",
+ "HP:0009381",
+ "UPHENO:0074237",
+ "HP:0040068",
+ "GO:0010629",
+ "UBERON:0002398",
+ "HP:0000951",
+ "HP:0002813",
+ "UBERON:0004765",
+ "UPHENO:0003082",
+ "HP:0002488",
+ "UBERON:0002193",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0001016",
"UBERON:0001460",
+ "UPHENO:0004476",
+ "UBERON:0002389",
+ "UBERON:0004710",
+ "UPHENO:0084448",
+ "HP:0005561",
+ "UPHENO:0080352",
+ "HP:0005922",
+ "UBERON:0000383",
+ "UBERON:0000026",
+ "UPHENO:0076724",
+ "UPHENO:0078606",
+ "BFO:0000004",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0004064",
+ "UPHENO:0004909",
+ "UPHENO:0080393",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0000468",
+ "UPHENO:0063599",
+ "HP:0000118",
+ "UPHENO:0075195",
+ "UBERON:0002529",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0002948",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UBERON:0010323",
+ "UPHENO:0087518",
"UBERON:0019221",
- "UBERON:0010740",
+ "UBERON:0004288",
+ "UPHENO:0069266",
"UPHENO:0003227",
- "UPHENO:0002945",
+ "UBERON:0015203",
+ "UBERON:0012139",
+ "UPHENO:0002668",
+ "UBERON:0002470",
"UBERON:0000025",
- "HP:0001098",
- "HP:0025461",
- "UPHENO:0046483",
- "HP:0006496",
- "UPHENO:0002751",
- "UPHENO:0046397",
- "UPHENO:0076720",
- "HP:0032251",
- "UPHENO:0081204",
+ "HP:0001000",
+ "UBERON:0019231",
+ "UPHENO:0076723",
+ "UPHENO:0049743",
"UPHENO:0084763",
- "UPHENO:0046490",
- "UPHENO:0081313",
- "UPHENO:0046554",
- "HP:0000483",
- "UBERON:0019261",
- "UBERON:0002049",
- "UBERON:0005181",
- "UPHENO:0002544",
- "HP:0000085",
- "UPHENO:0004909",
- "UPHENO:0002880",
- "UPHENO:0033584",
- "UPHENO:0068921",
- "UPHENO:0002538",
- "HP:0006501",
- "CL:0000766",
- "UPHENO:0050034",
- "UPHENO:0046403",
- "HP:0012759",
- "UPHENO:0075933",
- "UPHENO:0068912",
+ "UBERON:0012475",
+ "UBERON:0000475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
"UBERON:0015061",
- "GO:0010817",
- "HP:0009826",
- "HP:0025015",
- "UPHENO:0066905",
- "UPHENO:0003936",
- "HP:0011121",
- "UPHENO:0074311",
- "UPHENO:0069328",
- "UPHENO:0009010",
- "UPHENO:0002861",
- "UPHENO:0026486",
- "UPHENO:0009209",
- "UBERON:0006058",
- "UPHENO:0074237",
- "UPHENO:0046552",
- "UPHENO:0081091",
- "UPHENO:0076718",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0026181",
- "UBERON:0005281",
- "UPHENO:0012274",
- "UPHENO:0087750",
- "UPHENO:0003095",
- "UPHENO:0003514",
- "UPHENO:0026146",
- "UPHENO:0002785",
- "HP:0000152",
- "UPHENO:0068838",
- "HP:0012145",
- "UPHENO:0046540",
- "UPHENO:0002467",
- "HP:0002817",
- "UPHENO:0003030",
- "UBERON:0004732",
- "UPHENO:0002562",
- "UPHENO:0046472",
- "UBERON:0008962",
- "UBERON:0004453",
- "UBERON:0015001",
- "HP:0100240",
- "UPHENO:0025135",
- "UPHENO:0068848",
- "UBERON:0006717",
- "UPHENO:0002593",
- "UPHENO:0002550",
- "HP:0011991",
- "UPHENO:0068898",
- "UPHENO:0002746",
- "UPHENO:0002954",
- "UBERON:0010712",
- "UBERON:0011249",
- "UPHENO:0011546",
- "UPHENO:0008707",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0002246",
- "UBERON:0010703",
- "HP:0010993",
- "UBERON:0002428",
- "UPHENO:0026095",
- "UPHENO:0002648",
- "UPHENO:0002719",
- "HP:0030680",
- "UPHENO:0087349",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UPHENO:0002949",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "HP:0000924",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UPHENO:0080126",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "HP:0011927",
+ "HP:0000002",
+ "UPHENO:0068971",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "UBERON:0006058",
+ "UPHENO:0080079",
"UPHENO:0002870",
- "HP:0000957",
- "UPHENO:0002967",
- "HP:0005927",
- "UPHENO:0074310",
- "UBERON:0001981",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UBERON:0006048",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0049757",
+ "UPHENO:0080662",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001442",
"CL:0000000",
- "UPHENO:0002725",
- "UPHENO:0026010",
- "UBERON:0010538",
- "HP:0005773",
- "UBERON:0003221",
- "UPHENO:0002594",
- "HP:0009815",
- "UBERON:0002495",
- "HP:0005528",
- "UPHENO:0003065",
- "UPHENO:0002650",
- "UPHENO:0049894",
- "HP:0001167",
- "UBERON:0000026",
- "UPHENO:0002800",
- "UBERON:0003645",
- "HP:0005561",
- "UPHENO:0025166",
- "UBERON:0004120",
- "UBERON:0011584",
- "UPHENO:0052178",
- "HP:0003422",
- "HP:0040070",
- "UPHENO:0012312",
- "UBERON:0002405",
- "HP:0011017",
- "GO:0006810",
- "UPHENO:0046396",
- "UBERON:0004714",
- "HP:0000818",
- "HP:0006503",
- "UBERON:0003544",
- "UBERON:0013768",
- "UPHENO:0002969",
- "HP:0002715",
- "GO:0023052",
- "UBERON:0005401",
- "UPHENO:0069030",
- "UPHENO:0009295",
+ "UBERON:0010708",
+ "HP:0040012",
+ "UPHENO:0001001",
+ "UBERON:0012354",
+ "UBERON:0001434",
+ "UPHENO:0003812",
"UPHENO:0046741",
- "UPHENO:0087518",
- "UPHENO:0002211",
- "UBERON:0000060",
- "UPHENO:0002717",
- "UPHENO:0075944",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0075195",
- "UPHENO:0004523",
- "UPHENO:0046445",
- "UBERON:0006314",
- "UPHENO:0046594",
- "UBERON:0002390",
- "BFO:0000040",
- "UBERON:0000941",
- "UPHENO:0011544",
- "CL:0000255",
- "HP:0001172",
- "UPHENO:0011572",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0002964",
+ "RO:0002577",
+ "UBERON:0010740",
+ "UBERON:0001245",
+ "UPHENO:0054374",
+ "HP:0000252",
+ "UBERON:0002204",
+ "UBERON:0000465",
+ "GO:0048519",
+ "HP:0011121",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0003049",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0069236",
+ "UBERON:0007272",
+ "HP:0045060",
+ "UPHENO:0005092",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0009601",
+ "UPHENO:0076692",
+ "BFO:0000002",
+ "UPHENO:0012440",
+ "UPHENO:0054957",
+ "UPHENO:0003432",
+ "UBERON:0011216",
"CL:0000738",
- "UBERON:0011138",
- "HP:0100887",
- "UBERON:0002193",
- "HP:0001871",
- "HP:0006265",
- "UPHENO:0049813",
- "UPHENO:0074245",
- "UPHENO:0063794",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0076799",
- "UBERON:0002099",
- "HP:0001872",
- "HP:0010026",
- "UPHENO:0063722",
- "UBERON:0015203",
- "UBERON:0000475",
- "UPHENO:0008743",
- "HP:0010034",
- "UPHENO:0046528",
- "UPHENO:0085356",
- "UPHENO:0011573",
- "UBERON:0004451",
- "UPHENO:0002792",
- "UPHENO:0063787",
- "UBERON:0012139",
- "UPHENO:0085371",
- "UPHENO:0049642",
- "UPHENO:0087369",
- "CL:0000988",
- "GO:0051179",
- "HP:0000470",
- "HP:0000118",
- "UBERON:0004710",
- "HP:0001881",
- "HP:0040195",
- "UPHENO:0046618",
- "UPHENO:0033596",
- "UPHENO:0068914",
- "UPHENO:0069327",
- "UPHENO:0002632",
- "UBERON:0000489",
- "UPHENO:0002603",
- "HP:0011994",
- "UBERON:0005177",
- "UPHENO:0010763",
- "HP:0000325",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "HP:0000413",
- "UPHENO:0025961",
- "UPHENO:0026098",
+ "UPHENO:0002880",
+ "UBERON:0000467",
+ "UPHENO:0003004",
+ "GO:0009892",
"UPHENO:0002733",
- "UPHENO:0002944",
- "CL:0002242",
- "UPHENO:0002910",
+ "NCBITaxon:1",
+ "UPHENO:0069327",
+ "UPHENO:0075159",
+ "UPHENO:0069674",
+ "UPHENO:0010850",
"UPHENO:0002559",
+ "HP:0040195",
+ "HP:0009815",
+ "UPHENO:0002731",
+ "UPHENO:0002859",
+ "UPHENO:0012308",
+ "GO:0031052",
+ "UPHENO:0002526",
+ "UPHENO:0010799",
+ "UPHENO:0050108",
+ "UBERON:0034923",
"UPHENO:0005214",
- "UPHENO:0003799",
- "UPHENO:0003815",
- "UPHENO:0002568",
- "HP:0002948",
- "UPHENO:0080204",
- "HP:0008057",
- "UPHENO:0086797",
- "UBERON:0011216",
- "HP:0011452",
- "UBERON:0018707",
- "UPHENO:9002003",
- "UPHENO:0002643",
- "GO:0008152",
- "UBERON:0004088",
- "UPHENO:0071310",
- "HP:0011282",
- "UPHENO:0071317",
- "UPHENO:0076810",
- "UPHENO:0063565",
- "UPHENO:0008523",
- "UPHENO:0069266",
- "UPHENO:0046684",
- "UBERON:0001015",
- "UBERON:0019207",
"UPHENO:0002736",
- "UBERON:0009569",
- "CL:0001035",
- "UPHENO:0002600",
- "UPHENO:0009337",
- "HP:0001507",
- "UPHENO:0002430",
- "UBERON:0013701",
- "UPHENO:0002360",
- "UPHENO:0002308",
- "UPHENO:0025921",
- "UPHENO:0069477",
- "UPHENO:0075220",
- "UPHENO:0009163",
- "UPHENO:0002926",
- "UBERON:0002108",
- "UPHENO:0033565",
- "UPHENO:0081598",
- "UPHENO:0069335",
- "HP:0012130",
- "HP:0000924",
- "UBERON:0000062",
- "HP:0033127",
- "UPHENO:0003415",
- "UBERON:0000063",
- "UBERON:0004535",
- "UPHENO:0011520",
- "UBERON:0011137",
- "UPHENO:0081554",
- "UPHENO:0008622",
- "UPHENO:0004831",
- "HP:0001331",
- "UPHENO:0063615",
- "UPHENO:0005092",
- "UPHENO:0081423",
- "UBERON:8450002",
- "HP:0010009",
- "UBERON:0004121",
- "UPHENO:0082875",
- "UPHENO:0076776",
- "UPHENO:0046538",
- "UBERON:0000468",
- "UPHENO:0002313",
- "UBERON:0005178",
- "UPHENO:0003088",
- "UBERON:0001434",
- "UPHENO:0033590",
- "UBERON:0003460",
- "UPHENO:0076803",
- "UPHENO:0004507",
- "UPHENO:0076692",
- "UBERON:0004288",
- "UBERON:0004573",
- "HP:0000929",
- "UPHENO:0078122",
- "HP:0002589",
- "HP:0011283",
- "UPHENO:0071344",
- "UPHENO:0003069",
- "UPHENO:0002983",
- "UPHENO:0075655",
- "UPHENO:0050065",
- "UPHENO:0003827",
- "GO:0010556",
- "UPHENO:0004827",
- "UPHENO:0033572",
- "UPHENO:0085344",
- "UPHENO:0087907",
- "UPHENO:0026806",
- "UBERON:5002544",
- "UPHENO:0076723",
- "UPHENO:0009195",
- "UBERON:0002413",
- "UPHENO:0009136",
- "HP:0002818",
- "UPHENO:0026317",
- "UPHENO:0015277",
- "CL:0000457",
- "UPHENO:0086176",
- "PATO:0000001",
- "UPHENO:0003086",
- "UPHENO:0081511",
- "UPHENO:0069480",
- "HP:0011842",
- "UPHENO:0003017",
- "UPHENO:0025852",
- "UBERON:5101463",
- "UBERON:0002085",
- "UPHENO:0087596",
- "UPHENO:0002641",
- "UPHENO:0079876",
- "UPHENO:0063629",
- "UBERON:0000915",
- "UPHENO:0066907",
- "UPHENO:0002531",
- "UPHENO:0002816",
- "UPHENO:0004459",
- "GO:0050954",
- "UPHENO:0046448",
- "UPHENO:0033559",
- "UBERON:0000467",
- "UPHENO:0008487",
- "UPHENO:0080187",
+ "UBERON:0010712",
+ "CL:0000763",
+ "UPHENO:0086633",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0002548",
+ "HP:0006727",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UBERON:0001015",
+ "UPHENO:0069062",
"NCBITaxon:33208",
- "UPHENO:0049703",
- "UPHENO:0027017",
- "HP:0009115",
- "UBERON:0002204",
- "UPHENO:0069194",
- "UPHENO:0002927",
- "UBERON:0000465",
- "UPHENO:0001001",
- "UPHENO:0086857",
- "UPHENO:0063639",
- "UBERON:0008001",
- "UPHENO:0046539",
- "UBERON:0002100",
- "UBERON:0015410",
- "HP:0002977",
- "HP:0001627",
- "CL:0000219",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:3000000",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0087376",
- "UBERON:0002355",
- "UBERON:0001440",
- "UPHENO:0015308",
- "UPHENO:0027014",
- "UPHENO:0080079",
- "UPHENO:0078139",
- "HP:0001263",
- "HP:0005120",
- "UPHENO:0046693",
- "UPHENO:0002833",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0011498",
- "UPHENO:0069277",
- "HP:0001875",
- "UPHENO:0076782",
- "UPHENO:0003005",
- "UPHENO:0087924",
- "UPHENO:0076744",
- "HP:0000001",
- "UPHENO:0086016",
- "UBERON:0003947",
- "HP:0010662",
- "BFO:0000002",
- "HP:0002242",
- "HP:0002813",
- "UBERON:0000047",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0012477",
- "UBERON:0000064",
- "UBERON:0003037",
- "UPHENO:0004618",
- "UBERON:0006876",
- "UBERON:0001463",
- "UPHENO:0084819",
- "UPHENO:0069046",
- "UPHENO:0025855",
- "UBERON:0015228",
- "UBERON:0010314",
- "UPHENO:0068839",
- "UPHENO:0077373",
- "UBERON:5102389",
- "GO:0010558",
- "UPHENO:0080126",
- "UBERON:0001009",
- "UPHENO:0011563",
- "UPHENO:0033560",
- "HP:0001911",
- "HP:0000077",
- "UPHENO:0085330",
- "UPHENO:0088176",
- "UPHENO:0086855",
- "UPHENO:0002554",
- "UPHENO:0049699",
- "HP:0000478",
- "UBERON:0005179",
- "UPHENO:0002750",
- "GO:0046879",
- "HP:0011100",
- "UPHENO:3000007",
- "UPHENO:0005433",
- "UPHENO:0002934",
- "HP:0001626",
- "UPHENO:0031254",
+ "UBERON:0002428",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UBERON:0000075",
+ "UPHENO:0002593",
+ "UPHENO:0003069",
+ "UBERON:0001474",
+ "UBERON:0002199",
+ "UPHENO:0046528",
+ "UPHENO:0002944",
+ "UPHENO:0063581",
+ "UPHENO:0002586",
+ "UPHENO:0000543",
+ "CL:0000255",
+ "UPHENO:0002896",
"UBERON:0005881",
- "UPHENO:0002963",
- "UPHENO:0002526",
- "OBI:0100026",
- "UPHENO:0076783",
- "UBERON:0001062",
- "UPHENO:0068879",
- "UBERON:0010741",
- "UPHENO:0002525",
- "HP:0011024",
- "UPHENO:0003410",
- "UPHENO:0063575",
- "UPHENO:0002830",
- "UPHENO:0076754",
- "UBERON:0001444",
- "GO:0050794",
- "UBERON:0002081",
- "HP:0040064",
- "UPHENO:0003004",
- "UPHENO:0088166",
- "UPHENO:0012308",
- "HP:0003953",
- "UPHENO:0069064",
- "UBERON:0000463",
- "UBERON:0004151",
- "UPHENO:0066927",
- "UPHENO:0077418",
- "UPHENO:0078188",
- "HP:0003026",
- "HP:0009822",
- "HP:0012506",
- "GO:0031049",
- "HP:0011297",
- "UBERON:0002513",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "HP:0009823",
- "UPHENO:0011531",
- "HP:0010987",
- "HP:0001939",
- "HP:0032309",
- "UPHENO:0004884",
- "UPHENO:0009356",
- "UPHENO:0025545",
- "HP:0000271",
- "UPHENO:0081440",
- "UPHENO:0025553",
- "HP:0010049",
- "UPHENO:0002806",
- "UBERON:0010363",
- "UPHENO:0002385",
- "HP:0000568",
- "CL:0002092",
- "UBERON:0000019",
- "UBERON:0005156",
- "HP:0009767",
- "UBERON:0004456",
- "UPHENO:0003015",
- "UPHENO:0005058",
- "UBERON:0002471",
- "HP:0000240",
- "UPHENO:0003432",
- "UBERON:0003466",
- "UPHENO:0003084",
- "UBERON:0003458",
- "UBERON:0002075",
- "UPHENO:0085354",
- "UPHENO:0063594",
- "UBERON:0010323",
- "UPHENO:0026390",
- "UPHENO:0077348",
- "BFO:0000001",
- "UBERON:0000383",
- "GO:0040007",
- "UPHENO:0086172",
- "UPHENO:0003460",
- "HP:0000545",
- "UBERON:0003606",
- "UPHENO:0046465",
- "UPHENO:0074575",
- "HP:0000543",
- "UPHENO:0002267",
- "UPHENO:0081210",
- "UBERON:0005985",
- "UPHENO:0080325",
- "UPHENO:0002261",
- "UBERON:0011582",
- "UBERON:0010000",
- "UPHENO:0004386",
- "UPHENO:0002948",
- "UBERON:0007100",
- "UPHENO:0002656",
- "UPHENO:0004521",
- "UPHENO:0009341",
- "UPHENO:0076675",
- "UPHENO:0002386",
+ "UPHENO:0049966",
"UPHENO:0005597",
- "HP:0009824",
- "GO:0009790",
- "UPHENO:0004956",
- "HP:0012373",
- "UPHENO:0002976",
- "UPHENO:0002564",
- "UBERON:0004122",
- "UPHENO:0025508",
- "UPHENO:0086956",
- "UPHENO:0002859",
- "HP:0000014",
- "UPHENO:0008583",
- "UPHENO:0025544",
- "HP:0010974",
- "UPHENO:0077399",
- "HP:0030047",
- "UBERON:0003513",
- "UPHENO:0026183",
- "CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0002476",
- "UBERON:0000033",
- "UBERON:0000970",
- "UPHENO:0002536",
- "UPHENO:0003697",
- "UBERON:0000153",
- "UPHENO:0009115",
- "UBERON:0000061",
- "UPHENO:0080200",
- "UPHENO:0076695",
- "UPHENO:0086932",
- "UPHENO:0002844",
- "UPHENO:0025811",
- "UPHENO:0004494",
- "UPHENO:0002987",
- "UPHENO:0046460",
- "HP:0000234",
- "UBERON:0000966",
- "UBERON:0001016",
- "UBERON:0015212",
- "UPHENO:0002841",
- "UPHENO:0052160",
- "UPHENO:0002693",
- "UBERON:0015023",
- "UPHENO:0079872",
- "UPHENO:0026344",
- "UPHENO:0076727",
- "HP:0005922",
- "UPHENO:0009391",
- "HP:0000539",
- "UPHENO:0033573",
- "UPHENO:0002754",
- "UPHENO:0046484",
- "HP:0031703",
- "UBERON:0012475",
- "HP:0040068",
- "HP:0009821",
- "UPHENO:0002659",
- "CL:0000094",
- "UPHENO:0002621",
- "UPHENO:0003025",
- "UPHENO:0002352",
- "UPHENO:0002896",
- "UPHENO:0069292",
- "UPHENO:0002301",
- "UPHENO:0046479",
- "HP:0000925",
- "HP:0011844",
- "UPHENO:0015281",
- "HP:0025354",
- "UBERON:0001032",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0068971",
- "UPHENO:0005647",
- "UPHENO:0002731",
- "UBERON:0012151",
- "HP:0011893",
- "UPHENO:0086633",
- "UPHENO:0087510",
- "UBERON:0007272",
- "UPHENO:0080099",
- "UPHENO:0074335",
- "GO:0023061",
- "UPHENO:0004788",
- "HP:0000315",
- "HP:0010438",
- "UBERON:0004923",
- "UPHENO:0005120",
- "UBERON:0002199",
- "UBERON:0008785",
- "UBERON:0005440",
- "UPHENO:0069047",
- "GO:0031323",
- "UBERON:0003509",
- "UPHENO:0009344",
- "UPHENO:0008640",
- "UPHENO:0025497",
- "HP:0011873",
- "UPHENO:0003020",
- "UPHENO:0085302",
- "UPHENO:0080588",
- "UBERON:0000056",
- "HP:0009778",
- "UPHENO:0003811",
- "GO:0032940",
- "UBERON:0001756",
- "CL:0000233",
- "UBERON:0004375",
- "HP:0000069",
- "CL:0000458",
- "UPHENO:0046438",
- "UPHENO:0063562",
- "UBERON:0015204",
- "UPHENO:0084761",
- "UPHENO:0004149",
- "HP:0001873",
- "UPHENO:0002782",
- "HP:0002949",
- "UPHENO:0086700",
- "UBERON:0019231",
- "UBERON:0010708",
- "CHEBI:24431",
- "UPHENO:0076724",
- "UPHENO:0069684",
- "HP:0000365",
- "UBERON:0000477",
- "UPHENO:0082878",
- "UPHENO:0046740",
- "UPHENO:0008475",
- "UPHENO:0002905",
- "UPHENO:0004476",
- "UBERON:5002389",
- "UPHENO:0069236",
- "UBERON:0002091",
- "UBERON:0005388",
- "UPHENO:0053456",
- "HP:0000464",
- "UBERON:0012140",
- "UPHENO:0069538",
- "UPHENO:0087089",
- "UBERON:0001442",
- "UPHENO:0010808",
- "UPHENO:0002738",
- "GO:0042886",
- "UPHENO:0087006",
- "HP:0040072",
- "UPHENO:0069605",
- "HP:0000372",
- "UPHENO:0003082",
- "UPHENO:0002640",
- "UPHENO:0002964",
- "UBERON:0001423",
- "UPHENO:0081581",
- "UBERON:0000481",
- "HP:0011927",
- "UPHENO:0046750",
- "UPHENO:0076735",
- "UPHENO:0046426",
- "UPHENO:0046411",
- "GO:0048519",
- "UPHENO:0002635",
- "UPHENO:0080114",
- "UPHENO:0084448",
- "UBERON:0010707",
- "UBERON:0034923",
- "UBERON:0002389",
- "UPHENO:0002388",
- "UBERON:0013765",
- "UBERON:0002037",
- "UPHENO:0002739",
- "HP:0009381",
- "UPHENO:0069062",
- "UPHENO:0002708",
- "UBERON:0001893",
- "UPHENO:0069674",
- "UPHENO:0004064",
- "UBERON:5001463",
- "UPHENO:0049733",
- "UBERON:0001017",
- "UBERON:0011215",
- "HP:0034323",
- "UPHENO:0046707",
- "UPHENO:0087943",
- "UPHENO:0063563",
- "UBERON:0002386",
- "HP:0009601",
- "UPHENO:0002530",
- "UPHENO:0002765",
- "UPHENO:0004766",
- "UBERON:0004770",
- "UBERON:0002082",
- "UBERON:0000974",
- "HP:0012639",
- "NCBITaxon:1",
- "UPHENO:0076791",
- "UBERON:0005162",
- "UPHENO:0086699",
- "NCBITaxon:33154",
- "UPHENO:0087563",
- "GO:0030072",
- "UPHENO:0026226",
- "UPHENO:0025652",
- "UPHENO:0075997",
- "HP:0004329",
- "UPHENO:0003114",
- "UPHENO:0049743",
- "HP:0011875",
- "UPHENO:0033607",
- "HP:0000707",
- "UBERON:0034713",
- "UBERON:0001783",
- "UBERON:0001802",
- "UBERON:0005172",
- "UBERON:0005358",
- "UPHENO:0063577",
- "UBERON:0003951",
- "UBERON:0000122",
- "UPHENO:0002548",
- "UPHENO:0002902",
- "NCBITaxon:131567",
- "HP:0000479",
- "HP:0000587",
- "UPHENO:0046406",
- "UPHENO:0076702",
- "UPHENO:0052159",
- "HP:0011843",
- "UPHENO:0041075",
- "HP:0012372",
- "UPHENO:0068932",
- "UBERON:0015007",
- "HP:0001317",
- "UPHENO:0008998",
- "HP:0000598",
- "UPHENO:0087472",
- "UPHENO:0003074",
- "HP:0011729",
- "UPHENO:0050063",
- "UPHENO:0086589",
- "CL:0000763",
- "UPHENO:0003026",
- "UBERON:0000990",
- "UPHENO:0050014",
- "NCBITaxon:2759",
- "NCBITaxon:6072",
- "UPHENO:0087614",
- "UPHENO:0003066",
- "UPHENO:0003050",
- "UPHENO:0000541",
- "UPHENO:0049775",
- "UPHENO:0033568",
- "UPHENO:0074330",
- "GO:0032501",
- "UPHENO:0002325",
- "UPHENO:0003698",
- "GO:0010629",
- "GO:0032502",
- "HP:0001274",
- "UBERON:0002113",
- "UPHENO:0050108",
- "UBERON:0002398",
- "HP:0000009",
- "GO:0007275",
- "UPHENO:0080393",
- "UPHENO:0081466",
- "GO:0008150",
- "UPHENO:0046392",
- "UPHENO:0080382",
- "UBERON:0004708",
- "GO:0048856",
- "UPHENO:0052694",
- "UBERON:0005944",
- "UBERON:0005282",
- "UPHENO:0049966",
- "HP:0001511",
- "GO:0005623",
- "UPHENO:0011576",
- "HP:0020047",
- "HP:0001510",
- "BFO:0000015",
- "UPHENO:0050068",
- "UPHENO:0008430",
- "BFO:0000003",
- "UPHENO:0050625",
- "UPHENO:0080010",
- "GO:0031326",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UBERON:0006048",
- "UPHENO:0003116",
- "UPHENO:0002422",
- "UPHENO:0049587",
- "UPHENO:0050106",
- "HP:0009380",
- "UBERON:0002102",
- "CL:0000225",
- "UPHENO:0000543",
- "GO:0055127",
- "GO:0007605",
- "HP:0011314",
- "UPHENO:0004518",
- "UPHENO:0052161",
- "UPHENO:0002574",
- "UPHENO:0025585",
- "UPHENO:0052970",
- "UPHENO:0078316",
- "UPHENO:0002832",
- "UBERON:0004571",
- "UPHENO:0026108",
- "UPHENO:0076730",
- "UPHENO:0078092",
- "HP:0031704",
- "UPHENO:0052231",
- "UPHENO:0025507",
- "UPHENO:0005517",
- "UPHENO:0002928",
- "UBERON:0002105",
- "UBERON:0034921",
- "UBERON:0001690",
- "UPHENO:0002866",
- "UPHENO:0002903",
- "UPHENO:0076901",
- "HP:0000405",
- "UPHENO:0052165",
- "UBERON:0000955",
- "UPHENO:0002240",
- "UBERON:0015025",
- "GO:0007600",
- "HP:0009777",
- "UPHENO:0076812",
- "UPHENO:0050234",
- "UPHENO:0005512",
- "HP:0000364",
- "CL:0000151",
- "UPHENO:0050620",
- "UPHENO:0002634",
- "UPHENO:0005513",
- "BFO:0000004",
- "UPHENO:0003412",
- "UPHENO:0005437",
- "UPHENO:0081435",
- "UPHENO:0005518",
- "HP:0007375",
- "HP:0034430",
- "UPHENO:0008668",
- "UPHENO:0009146",
- "UPHENO:0008548",
- "UPHENO:0069161",
- "UPHENO:0006894",
- "UPHENO:0080209",
- "HP:0008056",
- "GO:0010468",
- "UPHENO:0069523",
- "GO:0015833",
- "UPHENO:0011825",
- "UPHENO:0066925",
- "UBERON:0015043",
- "UPHENO:0025845",
- "HP:0000821",
- "UPHENO:0002403",
- "UPHENO:0066934",
- "UPHENO:0026073",
- "UBERON:0000949",
- "HP:0002926",
- "HP:0031071",
- "UPHENO:0003027",
- "UPHENO:0066911",
- "HP:0010935",
- "UBERON:0002368",
- "UPHENO:0086019",
- "HP:0000820",
- "UPHENO:0026312",
- "UPHENO:3000004",
- "UPHENO:0066930",
- "UPHENO:0066913",
- "UBERON:0002530",
- "UPHENO:0002529",
- "UPHENO:0026813",
- "UPHENO:0075902",
- "UPHENO:0002654",
- "UPHENO:0024906",
- "UPHENO:0066903",
- "UBERON:0002046",
- "UPHENO:0076957",
- "UPHENO:0077391",
- "UPHENO:0049890",
- "UPHENO:0002874",
- "UPHENO:0004469",
- "UBERON:0002028",
- "UPHENO:0004802",
- "UPHENO:0081601",
- "UPHENO:0071325",
- "UPHENO:0003459",
- "UBERON:0004733",
- "HP:0002438",
- "UBERON:0002616",
- "UBERON:0003834",
- "HP:0000079",
- "UPHENO:0080208",
- "UPHENO:0075948",
- "UPHENO:0026643",
- "UBERON:0002470",
- "UPHENO:0071335",
- "HP:0012443",
- "HP:0007364",
- "GO:0065008",
- "UPHENO:0071339",
- "HP:0001631",
- "UPHENO:0071315",
- "UPHENO:0041821",
- "UPHENO:0049874",
- "HP:0002308",
- "UBERON:0000073",
- "UPHENO:0081579",
- "HP:0001367",
- "UBERON:0005174",
- "HP:0001000",
- "HP:0003468",
- "UBERON:0006555",
- "UBERON:0005434",
- "UBERON:0000982",
- "HP:0002118",
- "UPHENO:0004047",
- "UPHENO:0002713",
- "UPHENO:0002813",
- "UPHENO:0002646",
- "UBERON:0004905",
- "UPHENO:0003092",
- "UPHENO:0002637",
- "UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0078067",
- "UBERON:0001436",
- "UPHENO:0002808",
- "UPHENO:0003038",
- "UPHENO:0004621",
- "UPHENO:0069163",
- "UBERON:0002101",
- "UPHENO:0078068",
- "UPHENO:0002616",
- "UBERON:0002090",
- "UBERON:0001137",
- "HP:0009121",
- "UPHENO:0026994",
- "HP:0045060",
- "UPHENO:0046405",
- "UPHENO:0078125",
- "UBERON:0010913",
- "UPHENO:0003812",
- "UBERON:0004247",
- "UBERON:0012354",
- "UPHENO:0078169",
- "UPHENO:0002674",
- "UPHENO:0076767",
- "UPHENO:0002769",
- "UPHENO:0049927",
- "UBERON:0002412",
- "HP:0001874",
- "UBERON:0004381",
- "UBERON:0006072",
- "UPHENO:0078098",
- "HP:0000370",
- "UPHENO:0002269",
- "UPHENO:0011568",
- "HP:0008058",
- "UPHENO:0002642",
- "HP:0000609",
- "UPHENO:0081264",
- "UPHENO:0050121",
- "GO:0007154",
- "GO:0140352",
- "GO:0051234",
- "GO:0009987",
- "UPHENO:0076740",
- "GO:0065007",
- "UPHENO:0049829",
- "UPHENO:0050581",
- "HP:0001655",
- "UPHENO:0002553",
- "GO:0002790",
- "UPHENO:0049871",
- "UBERON:0015021",
- "UPHENO:0009021",
- "UPHENO:0049691",
- "UPHENO:0015324",
- "HP:0032367",
- "UPHENO:0001003",
- "UPHENO:0049724",
- "UPHENO:0080351",
- "UPHENO:0050064",
- "UBERON:0010912",
- "UPHENO:0049647",
- "UBERON:0011676",
- "GO:0007267",
- "UBERON:0000179",
- "GO:0071705",
- "GO:0046903",
- "GO:0009914",
- "UPHENO:0046571",
- "UBERON:0001555",
- "HP:0025668",
- "UPHENO:0005230",
- "UPHENO:0008709",
- "HP:0012638",
- "HP:0012758",
- "UPHENO:0002433",
- "UPHENO:0050778",
- "GO:0042592",
- "UPHENO:0025176",
- "UPHENO:0011548",
- "UPHENO:0005642",
- "GO:0031327",
- "HP:0011603",
- "UPHENO:0050025",
- "HP:0001155",
- "GO:0031052",
- "HP:0003220",
- "UPHENO:0002704",
- "UBERON:0004119",
- "GO:0031324",
- "GO:0003008",
- "GO:0010605",
- "GO:0009890",
- "HP:0040012",
- "HP:0001999",
- "UBERON:0001895",
- "UPHENO:0049620",
- "HP:0012795",
- "GO:0019222",
- "UPHENO:0050784",
- "UPHENO:0049904",
- "HP:0003221",
- "UPHENO:0078606",
- "UPHENO:0087940",
- "UPHENO:0050007",
- "UBERON:0002529",
- "UPHENO:0050040",
- "UPHENO:0049868",
- "UPHENO:0080377",
- "UPHENO:0049757",
- "UPHENO:0050126",
- "GO:0048523",
- "UBERON:0002336",
- "UPHENO:0002668",
- "HP:0002984",
- "UBERON:0001474",
- "GO:0009892",
- "UPHENO:0074230",
- "GO:0009889",
- "UPHENO:0084771",
- "UBERON:0004086",
- "UBERON:0001890",
- "UPHENO:0078195",
- "HP:0002060",
- "HP:0100547",
- "UPHENO:0010850",
- "UBERON:0004145",
- "UPHENO:0087920",
- "UPHENO:0003001",
- "UPHENO:0088047",
- "HP:0012210",
- "UPHENO:0002368",
- "HP:0010936",
- "UPHENO:0031125",
- "UPHENO:0046404",
- "HP:0000119",
- "UPHENO:0002219",
- "UPHENO:0066918",
- "UBERON:0006077",
- "UPHENO:0063616",
- "UPHENO:0075804",
- "UPHENO:0025882",
- "UBERON:0009856",
- "UPHENO:0002909",
- "UBERON:0010544",
- "UPHENO:0003101",
- "UBERON:0002544",
- "UBERON:0001255",
- "UPHENO:0002743",
- "UBERON:0001008",
- "UPHENO:0002636",
- "UBERON:0005173",
- "HP:0025634",
- "UPHENO:0003093",
- "UPHENO:0002576",
- "UPHENO:0002437",
- "UPHENO:0004757",
- "UBERON:0001556",
- "HP:0100691",
- "HP:0003319",
- "UBERON:0003129",
- "HP:0025031",
- "HP:0000076",
- "UPHENO:0002282",
- "UBERON:0036295",
- "UPHENO:0002827",
- "UPHENO:0046455",
- "UBERON:0011143",
- "UBERON:0000075",
- "HP:0000252",
- "UPHENO:0004704",
- "UPHENO:0081566",
- "UBERON:0000948",
- "UPHENO:0002901",
- "HP:0000356",
- "HP:0003974",
- "UPHENO:0002865"
- ],
- "has_phenotype_closure_label": [
- "number of anatomical enitites of type tissue phenotype",
- "tissue phenotype",
- "gray matter of forebrain",
- "absent ectoderm-derived structure in the brain ventricle/choroid plexus",
- "cell layer phenotype",
- "absent septum pellucidum",
- "gray matter",
- "septum pellucidum phenotype",
- "absent anatomical structure in the brain ventricle/choroid plexus",
- "gray matter phenotype",
- "gray matter of telencephalon",
- "number of anatomical enitites of type lamina phenotype",
- "septum pellucidum",
- "absent material anatomical entity in the brain ventricle",
- "absent multicellular anatomical structure in the brain ventricle/choroid plexus",
- "absent multicellular anatomical structure in the brain",
- "absent cell layer",
- "brain gray matter phenotype",
- "cell layer",
- "absent anatomical entity in the brain ventricle",
- "Abnormal septum pellucidum morphology",
- "absent multicellular anatomical structure in the brain ventricle",
- "decreased anatomical structure mass",
- "material anatomical entity mass phenotype",
- "Decreased multicellular organism mass",
- "anatomical structure mass phenotype",
- "decreased multicellular anatomical structure mass",
- "decreased material anatomical entity mass",
- "anatomical entity mass phenotype",
- "multicellular organism mass phenotype",
- "Decreased anatomical entity mass",
- "cornea phenotype",
- "neural crest-derived structure",
- "tunica fibrosa of eyeball",
- "ectoderm-derived structure, curved phenotype",
- "asymmetrically curved cornea",
- "Abnormal cornea morphology",
- "curved anatomical entity",
- "anatomical structure, asymmetrically curved phenotype",
- "neural crest-derived structure, asymmetrically curved phenotype",
- "curvature anatomical entity",
- "multicellular anatomical structure, asymmetrically curved phenotype",
- "Abnormality of the curvature of the cornea",
- "Astigmatism",
- "cornea",
- "anterior segment of eyeball morphology phenotype",
- "asymmetrically curved anatomical entity",
- "shape cornea",
- "Renal hypoplasia",
- "Short stature",
- "decreased height of the multicellular organism",
- "multicellular organism height phenotype",
- "anatomical entity height phenotype",
- "size of multicellular organism phenotype",
- "decreased size of the multicellular organism",
- "brain white matter phenotype",
- "axon tract phenotype",
- "corpus callosum morphology phenotype",
- "intercerebral commissure phenotype",
- "absent corpus callosum",
- "number of anatomical enitites of type ectoderm-derived structure phenotype",
- "cerebral hemisphere",
- "number of anatomical enitites of type dorsal telencephalic commissure phenotype",
- "Thin corpus callosum",
- "number of anatomical enitites of type commissure of telencephalon phenotype",
- "absent axon tract",
- "absent commissure of telencephalon",
- "number of anatomical enitites of type central nervous system cell part cluster phenotype",
- "nervous system commissure phenotype",
- "multicellular anatomical structure, curved phenotype",
- "absent anatomical entity in the brain",
- "cerebral hemisphere white matter phenotype",
- "number of anatomical enitites of type nervous system commissure phenotype",
- "number of anatomical enitites of type multi cell part structure phenotype",
- "absent tissue",
- "brain commissure morphology phenotype",
- "brain commissure",
- "number of anatomical enitites of type tract of brain phenotype",
- "absent intercerebral commissure",
- "Agenesis of corpus callosum",
- "white matter",
- "absent tract of brain",
- "intercerebral commissure",
- "dorsal telencephalic commissure",
- "Aplasia/Hypoplasia of the corpus callosum",
- "white matter phenotype",
- "cerebral subcortex",
- "absent anatomical structure in the brain",
- "absent anatomical entity in the nervous system",
- "aplasia or hypoplasia of corpus callosum",
- "absent central nervous system cell part cluster",
- "dorsal telencephalic commissure morphology phenotype",
- "tract of brain phenotype",
- "brain white matter",
- "tract of brain",
- "number of anatomical enitites of type corpus callosum phenotype",
- "brain commissure phenotype",
- "Aplasia/Hypoplasia of the cerebral white matter",
- "shape of continuant phenotype",
- "concave 3-D shape anatomical entity",
- "shape anatomical entity",
- "brain gray matter",
- "Horseshoe kidney",
- "U-shaped anatomical entity",
- "3-D shape anatomical entity",
- "reproductive system morphology phenotype",
- "reproductive system phenotype",
- "Abnormal size of pituitary gland",
- "gland of diencephalon phenotype",
- "diencephalon phenotype",
- "decreased size of the reproductive gland",
- "hypothalamus-pituitary axis phenotype",
- "reproductive structure phenotype",
- "decreased size of the structure with developmental contribution from neural crest",
- "decreased size of the reproductive organ",
- "decreased size of the endocrine gland",
- "structure with developmental contribution from neural crest, asymmetrically curved phenotype",
- "Abnormal pituitary gland morphology",
- "pituitary gland phenotype",
- "reproductive organ",
- "size of pituitary gland phenotype",
- "reproductive gland morphology phenotype",
- "diencephalon morphology phenotype",
- "reproductive organ phenotype",
- "hypothalamus-pituitary axis",
- "Abnormality of the kidney",
- "renal system morphology phenotype",
- "kidney phenotype",
- "abdomen element phenotype",
- "Abnormal renal morphology",
- "abdomen",
- "phalanx phenotype",
- "decreased size of the manus bone",
- "metacarpal bone of digit 1 morphology phenotype",
- "decreased size of the forelimb long bone",
- "decreased length of autopod endochondral element",
- "decreased length of manual digitopodium bone",
- "decreased size of the autopod endochondral element",
- "Aplasia/Hypoplasia of the phalanges of the thumb",
- "anatomical entity morphology in the skeleton of manus phenotype",
- "Aplasia/Hypoplasia of the phalanges of the hand",
- "abdomen element",
- "aplasia or hypoplasia of phalanx of manus",
- "decreased size of the digitopodium bone",
- "metacarpus skeleton phenotype",
- "decreased length of manual digit 1 phalanx endochondral element",
- "decreased length of manual digit bone",
- "phalanx endochondral element phenotype",
- "manus bone phenotype",
- "skeleton of digitopodium",
- "decreased length of phalanx of manus",
- "Small pituitary gland",
- "metapodium bone 1 phenotype",
- "Short metacarpal",
- "phalanx of manus phenotype",
- "Abnormal metacarpal morphology",
- "Short 1st metacarpal",
- "phalanx endochondral element",
- "manual digit phalanx endochondral element",
- "manual digit 1 digitopodial skeleton",
- "decreased length of phalanx",
- "Aplasia/Hypoplasia involving the metacarpal bones",
- "decreased length of manus bone",
- "absent anatomical structure in the brain ventricle",
- "decreased size of the phalanx endochondral element",
- "manual digit bone phenotype",
- "manual digit 1 metacarpus endochondral element phenotype",
- "manual digit phalanx endochondral element phenotype",
- "Short phalanx of the thumb",
- "Aplasia/Hypoplasia of the 1st metacarpal",
- "ocular surface region",
- "metacarpus skeleton",
- "digit 1 digitopodial skeleton",
- "manual digit digitopodial skeleton",
- "skeleton of manual acropodium",
- "skeleton of manual digitopodium",
- "metacarpal bone of digit 1 phenotype",
- "manual digit bone",
- "ectoderm-derived structure, asymmetrically curved phenotype",
- "metacarpus region",
- "metacarpal bone of digit 1",
- "manual digitopodium bone",
- "decreased size of the phalanx",
- "manual digit metacarpus endochondral element phenotype",
- "manual digit 1 phalanx endochondral element phenotype",
- "metacarpal bone",
- "metacarpal bone morphology phenotype",
- "manual digit 1 metacarpus endochondral element",
- "metapodium bone",
- "decreased length of manual digit metacarpus endochondral element",
- "decreased length of autopod bone",
- "metacarpal bone phenotype",
- "autopod bone phenotype",
- "decreased length of manual digit 1 metacarpus endochondral element",
- "phalanx morphology phenotype",
- "manual digitopodium bone phenotype",
- "manual digit 1 phalanx phenotype",
- "cardiac ventricle morphology phenotype",
- "Abnormal cardiac ventricle morphology",
- "interventricular septum",
- "cardiac ventricle",
- "Abnormal erythrocyte morphology",
- "Abnormal 1st metacarpal morphology",
- "erythroid lineage cell",
- "Irregular hyperpigmentation",
- "integumental system",
- "Cafe-au-lait spot",
- "integument",
- "skin of body phenotype",
- "Abnormality of the skin",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "Abnormality of skin pigmentation",
- "increased qualitatively biological_process",
- "integumental system phenotype",
- "Abnormality of multiple cell lineages in the bone marrow",
- "incomplete closing of the thoracic segment blood vessel",
- "Abnormality of the integument",
- "outflow tract phenotype",
- "incomplete closing of the vessel",
- "Abnormal vascular morphology",
- "Renal hypoplasia/aplasia",
- "Abnormal morphology of the great vessels",
- "incomplete closing of the systemic artery",
- "vessel",
- "vascular system",
- "conceptus",
- "incomplete closing of the ductus arteriosus",
- "blood vessel phenotype",
- "U-shaped kidney",
- "artery morphology phenotype",
- "blood vessel",
- "coronary vessel",
- "vessel phenotype",
- "incomplete closing of the heart blood vessel",
- "multicellular anatomical structure morphology in the heart phenotype",
- "blood vessel morphology phenotype",
- "vascular system morphology phenotype",
- "vasculature of trunk phenotype",
- "Congenital malformation of the great arteries",
- "heart vasculature",
- "ductus arteriosus",
- "systemic arterial system",
- "trunk blood vessel phenotype",
- "coronary vessel morphology phenotype",
- "vasculature of organ phenotype",
- "ductus arteriosus morphology phenotype",
- "vasculature of organ",
- "blood vasculature",
- "vasculature of trunk",
- "trunk blood vessel",
- "incomplete closing of the interventricular septum",
- "Patent ductus arteriosus",
- "arterial blood vessel",
- "great vessel of heart",
- "heart blood vessel",
- "embryonic cardiovascular system",
- "vasculature",
- "systemic artery",
- "Abnormal blood vessel morphology",
- "Abnormality of the vasculature",
- "incomplete closing of the trunk blood vessel",
- "great vessel of heart morphology phenotype",
- "arterial blood vessel phenotype",
- "incomplete closing of the coronary vessel",
- "Abnormal auditory canal morphology",
- "external acoustic meatus atresia",
- "external acoustic meatus phenotype",
- "closing of the endoderm-derived structure",
- "oxygen accumulating cell",
- "external ear morphology phenotype",
- "absent endochondral element",
- "absent neuron projection bundle",
- "absent radius endochondral element",
- "absent forelimb endochondral element in the limb",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "absent bone element",
- "absent anatomical entity in the multicellular organism",
- "metabolic process",
- "Abnormal cerebral white matter morphology",
- "hormone secretion",
- "absent skeletal element",
- "paired limb/fin",
- "Aplasia involving forearm bones",
- "absent forelimb bone",
- "anatomical entity morphology phenotype",
- "absent organ in the limb",
- "Hearing impairment",
- "bone of dorsum",
- "absent limb long bone",
- "kidney hypoplasia",
- "thyroid gland phenotype",
- "absent bone of pectoral complex",
- "decreased length of metacarpal bone of digit 1",
- "number of anatomical enitites of type organ phenotype",
- "absent organ in the multicellular organism",
- "absent bone of free limb or fin",
- "absent anatomical entity in the skeletal system",
- "absent multicellular anatomical structure",
- "absent anatomical entity in the forelimb",
- "autopod bone",
- "absent anatomical structure in the multicellular organism",
- "Abnormal leukocyte morphology",
- "absent material anatomical entity in the multicellular organism",
- "absent anatomical entity",
- "number of anatomical enitites of type neuron projection bundle phenotype",
- "acropodium region",
- "Absent radius",
- "decreased biological_process",
- "absent bone element in the forelimb",
- "absent arm bone",
- "decreased qualitatively sensory perception of mechanical stimulus",
- "absent bone of pectoral complex in the forelimb",
- "middle ear phenotype",
- "absent ectoderm-derived structure in the brain",
- "absent bone of pectoral complex in the limb",
- "middle ear",
- "pigmentation",
- "small intestine phenotype",
- "absent bone of free limb or fin in the limb",
- "absent multicellular anatomical structure in the skeletal system",
- "closing of the subdivision of digestive tract",
- "closing of the multicellular anatomical structure",
- "circulatory system",
- "digestive system element",
- "limb bone morphology phenotype",
- "small intestine morphology phenotype",
- "biogenic amine secreting cell",
- "closing of the anatomical system",
- "digitopodium bone phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "cranial nerve II hypoplasia",
- "closing of the organ part",
- "anatomical conduit",
- "Abnormal intestine morphology",
- "duodenum atresia",
- "multicellular organism",
- "Abnormal gastrointestinal tract morphology",
- "external ear phenotype",
- "Abnormality of the head",
- "multi cell part structure",
- "closing of the subdivision of tube",
- "Abnormality of the eye",
- "trunk or cervical vertebra phenotype",
- "absent bone of appendage girdle complex in the limb",
- "subdivision of digestive tract phenotype",
- "secretion by cell phenotype",
- "digestive tract",
- "skeleton of limb",
- "decreased length of manual digit phalanx endochondral element",
- "absent bone of free limb or fin in the forelimb",
- "small intestine",
- "duodenum phenotype",
- "alimentary part of gastrointestinal system",
- "alimentary part of gastrointestinal system phenotype",
- "tube phenotype",
- "sense organ physiology phenotype",
- "arm phenotype",
- "Abnormal immune system morphology",
- "Bone marrow hypocellularity",
- "leukocyte morphology phenotype",
- "system",
- "thoracic segment of trunk",
- "decreased length of endochondral element",
- "bone of pectoral complex phenotype",
- "multicellular anatomical structure atresia",
- "endochondral element phenotype",
- "Decreased body weight",
- "Aplasia/hypoplasia involving the skeleton",
- "subdivision of organism along appendicular axis",
- "ventricular system of brain",
- "absent anatomical entity in the central nervous system",
- "aplasia or hypoplasia of anatomical entity",
- "decreased length of forelimb endochondral element",
- "limb skeleton subdivision phenotype",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "formed ectoderm-derived structure",
- "decreased size of the limb endochondral element",
- "middle ear physiology phenotype",
- "appendicular skeleton phenotype",
- "digestive system phenotype",
- "reproductive gland",
- "vertebra",
- "Optic nerve hypoplasia",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "craniocervical region morphology phenotype",
- "aplastic anatomical entity",
- "vertebra phenotype",
- "skeleton phenotype",
- "subdivision of digestive tract",
- "decreased size of the reproductive structure",
- "regulation of gene expression",
- "decreased length of long bone",
- "multicellular organism morphology phenotype",
- "decreased qualitatively biological_process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "decreased length of metacarpal bone",
- "decreased nervous system process",
- "great vessel of heart phenotype",
- "bone of appendage girdle complex phenotype",
- "reproductive system",
- "material anatomical entity morphology in the heart phenotype",
- "decreased size of the organ",
- "decreased length of digitopodium bone",
- "radius bone phenotype",
- "aplasia or hypoplasia of skeleton",
- "cervical vertebra phenotype",
- "corpus callosum",
- "long bone phenotype",
- "decreased length of metapodium bone 1",
- "appendage girdle complex",
- "Aplasia/hypoplasia involving forearm bones",
- "white matter of forebrain phenotype",
- "Abnormality of limb bone",
- "fused skeletal joint and skeletal joint",
- "decreased size of the mesoderm-derived structure",
- "absent anatomical structure",
- "Abnormal forearm morphology",
- "vertebral column",
- "zeugopodial skeleton",
- "quality",
- "size of anatomical entity phenotype",
- "gland of diencephalon",
- "Abnormality of head or neck",
- "cell-cell signaling",
- "vestibulo-auditory system",
- "Abnormal endocrine morphology",
- "long bone morphology phenotype",
- "decreased length of phalanx endochondral element",
- "metencephalon",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "metapodial skeleton phenotype",
- "skin of body morphology phenotype",
- "paired limb/fin skeleton phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal cerebral ventricle morphology",
- "interventricular septum morphology phenotype",
- "decreased size of the material anatomical entity",
- "number of anatomical enitites of type skeletal element phenotype",
- "appendage",
- "absent multicellular anatomical structure in the multicellular organism",
- "decreased length of bone of pectoral complex",
- "Aplasia involving bones of the extremities",
- "absent limb bone",
- "lower urinary tract",
- "outflow tract",
- "organ part atresia",
- "individual digit of digitopodial skeleton",
- "anatomical entity atresia",
- "myeloid cell",
- "autopod region",
- "limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "anatomical entity length phenotype",
- "negative regulation of metabolic process phenotype",
- "limb long bone",
- "skull morphology phenotype",
- "anucleate cell",
- "Vesicoureteral reflux",
- "trunk region element",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "absent limb bone in the forelimb",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "subdivision of skeleton",
- "paired limb/fin phenotype",
- "Functional abnormality of the bladder",
- "decreased number of anatomical structure",
- "anatomical wall",
- "forelimb zeugopod bone morphology phenotype",
- "neutrophil phenotype",
- "decreased size of the anatomical entity",
- "negative regulation of cellular metabolic process",
- "radius bone morphology phenotype",
- "anatomical entity physiology phenotype",
- "forelimb endochondral element",
- "tube",
- "interatrial septum morphology phenotype",
- "subdivision of tube phenotype",
- "Intestinal atresia",
- "All",
- "formed anatomical structure",
- "limb bone",
- "camera-type eye phenotype",
- "Decreased head circumference",
- "pectoral appendage skeleton",
- "absent mesoderm-derived structure in the forelimb",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "absent limb long bone in the forelimb",
- "forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "bone of free limb or fin",
- "Abnormal long bone morphology",
- "bone of pectoral complex morphology phenotype",
- "appendage phenotype",
- "pectoral appendage skeleton phenotype",
- "thoracic cavity element",
- "central nervous system cell part cluster",
- "ventricle of nervous system phenotype",
- "thoracic segment blood vessel",
- "decreased length of organ",
- "decreased size of the pituitary gland",
- "Abnormal upper limb bone morphology",
- "brain white matter morphology phenotype",
- "independent continuant",
- "limb endochondral element phenotype",
- "digit morphology phenotype",
- "decreased size of the skeletal element",
- "absent long bone",
- "pituitary gland",
- "irregular bone phenotype",
- "alimentary part of gastrointestinal system atresia",
- "decreased length of anatomical entity",
- "fused cervical vertebra and anatomical entity",
- "upper limb segment",
- "limb segment phenotype",
- "absent ectoderm-derived structure",
- "forelimb zeugopod phenotype",
- "vestibulo-auditory system phenotype",
- "gland physiology phenotype",
- "bone of pectoral complex",
- "forelimb zeugopod skeleton",
- "secretion by cell",
- "forelimb",
- "aplasia or hypoplasia of radius bone",
- "artery phenotype",
- "Abnormal metencephalon morphology",
- "paired limb/fin segment phenotype",
- "lamina",
- "compound organ",
- "cervical vertebra",
- "cerebral hemisphere gray matter",
- "forebrain phenotype",
- "absent material anatomical entity in the brain ventricle/choroid plexus",
- "anatomical system atresia",
- "regional part of brain phenotype",
- "biological regulation",
- "mesoderm-derived structure physiology phenotype",
- "absent forelimb zeugopod bone in the forelimb",
- "decreased length of material anatomical entity",
- "Upper limb undergrowth",
- "duodenum morphology phenotype",
- "limb segment",
- "absent brain commissure",
- "decreased number of leukocyte",
- "tissue",
- "disconnected anatomical group",
- "endocrine gland morphology phenotype",
- "signaling",
- "subdivision of skeletal system",
- "gland phenotype",
- "Abnormal limb bone morphology",
- "absent bone of appendage girdle complex",
- "forelimb phenotype",
- "taxon specific phenotype",
- "Triangular face",
- "cerebral hemisphere white matter",
- "Abnormal cellular immune system morphology",
- "ear",
- "arm bone",
- "incomplete closing of the interatrial septum",
- "anatomical entity morphology in the brain phenotype",
- "autopodial extension phenotype",
- "interatrial septum perforation",
- "simple eye phenotype",
- "blood cell phenotype",
- "absent radius endochondral element in the forelimb",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "metencephalon morphology phenotype",
- "cardiac chamber phenotype",
- "photoreceptor array phenotype",
- "decreased length of limb endochondral element",
- "sensory perception of sound",
- "intestine morphology phenotype",
- "cardiac atrium phenotype",
- "cranial nerve II phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "mesoderm-derived structure",
- "Absent forearm bone",
- "anatomical system",
- "anatomical structure morphology in the heart phenotype",
- "Abnormality of the upper limb",
- "negative regulation of cellular biosynthetic process",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "decreased size of the autopod bone",
- "musculature phenotype",
- "increased pigmentation in skin of body",
- "Phenotypic abnormality",
- "Short long bone",
- "camera-type eye morphology phenotype",
- "Patent foramen ovale",
- "fused cervical vertebra and cervical vertebra",
- "Abnormal erythroid lineage cell morphology",
- "decreased size of the anatomical structure in the pectoral complex",
- "decreased size of the arm bone",
- "endocrine system",
- "systemic artery morphology phenotype",
- "Abnormal granulocyte morphology",
- "material anatomical entity atresia",
- "material entity",
- "leukocyte",
- "decreased functionality of the endoderm-derived structure",
- "endoderm-derived structure atresia",
- "external acoustic meatus",
- "subdivision of trunk phenotype",
- "retina",
- "decreased length of bone of appendage girdle complex",
- "decreased size of the bone of free limb or fin",
- "absent forelimb long bone in the forelimb",
- "regional part of nervous system phenotype",
- "subdivision of trunk",
- "increased biological_process",
- "decreased size of the bone of appendage girdle complex",
- "face morphology phenotype",
- "subdivision of vertebral column",
- "anatomical structure atresia",
- "Anemia",
- "absent multicellular anatomical structure in the forelimb",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
- "main body axis",
- "musculature",
- "Abnormal facial shape",
- "viscus",
- "external ear",
- "circulatory organ phenotype",
- "decreased size of the endochondral bone",
- "musculature of body phenotype",
- "anatomical conduit phenotype",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "cerebellum",
- "manual digit metacarpus endochondral element",
- "excretory system",
- "cardiac chamber",
- "number of anatomical enitites of type neutrophil phenotype",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "decreased length of skeletal element",
- "decreased vibrational conductance of sound to the inner ear",
- "pelvic region element phenotype",
- "camera-type eye physiology phenotype",
- "subdivision of organism along main body axis",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "regulation of biological process phenotype",
- "subdivision of tube atresia",
- "structure with developmental contribution from neural crest phenotype",
- "decreased length of anatomical structure",
- "absent forelimb bone in the limb",
- "cerebral hemisphere white matter morphology phenotype",
- "viscus phenotype",
- "Abnormality of the outer ear",
- "orbital region phenotype",
- "limb morphology phenotype",
- "multi-tissue structure phenotype",
- "sensory perception of sound phenotype",
- "metapodial skeleton",
- "musculoskeletal system physiology phenotype",
- "anatomical entity perforation",
- "decreased qualitatively embryo development",
- "closing of the material anatomical entity",
- "Abnormality of globe size",
- "absent anatomical structure in the skeletal system",
- "decreased size of the forelimb endochondral element",
- "decreased size of the gland",
- "signal release",
- "anatomical structure",
- "forelimb zeugopod",
- "decreased size of the forelimb zeugopod bone",
- "absent bone element in the limb",
- "digitopodium region",
- "nitrogen compound transport phenotype",
- "anatomical entity",
- "interatrial septum",
- "phenotypic effect",
- "Vertebral fusion",
- "number of myeloid cell phenotype",
- "postcranial axial skeleton phenotype",
- "zeugopod phenotype",
- "Abnormal nervous system physiology",
- "number of anatomical enitites of type bone element phenotype",
- "export from cell phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "number of anatomical enitites of type brain commissure phenotype",
- "pectoral appendage",
- "bone element",
- "camera-type eye",
- "Localized skin lesion",
- "absent skeletal element in the forelimb",
- "skeleton of pectoral complex",
- "Abnormal ear physiology",
- "Limb undergrowth",
- "decreased number of neutrophil",
- "biological_process rate phenotype",
- "fused anatomical entity and bony vertebral centrum",
- "specifically dependent continuant",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "ureter phenotype",
- "subdivision of organism along main body axis phenotype",
- "absent forelimb endochondral element",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "size of eyeball of camera-type eye phenotype",
- "thoracic segment organ",
- "Abnormal digit morphology",
- "phenotype",
- "decreased length of bone element",
- "trunk phenotype",
- "absent endochondral element in the forelimb",
- "decreased functionality of the anatomical entity",
- "Abnormal growth hormone level",
- "absent mesoderm-derived structure in the limb",
- "incomplete closing of the artery",
- "Reduced circulating growth hormone concentration",
- "primary circulatory organ phenotype",
- "anatomical entity morphology in the heart phenotype",
- "ear physiology phenotype",
- "Abnormality of the gastrointestinal tract",
- "Abnormal atrial septum morphology",
- "Ventricular septal defect",
- "absent material anatomical entity in the skeletal system",
- "sense organ",
- "eyeball of camera-type eye phenotype",
- "multicellular organism phenotype",
- "Chromosomal breakage induced by crosslinking agents",
- "multicellular anatomical structure",
- "number of cell phenotype",
- "Atrial septal defect",
- "radius endochondral element",
- "septum phenotype",
- "appendicular skeletal system",
- "decreased number of anatomical entity",
- "reproductive structure",
- "Abnormal heart morphology",
- "sense organ phenotype",
- "decreased size of the bone of pectoral complex",
- "organ system subdivision",
- "postcranial axial skeleton",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "segmental subdivision of nervous system phenotype",
- "organism subdivision",
- "central nervous system morphology phenotype",
- "bone of free limb or fin phenotype",
- "regulation of biosynthetic process",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "multicellular anatomical structure phenotype",
- "head",
- "Abnormal cardiovascular system morphology",
- "shape kidney",
- "decreased size of the limb long bone",
- "cardiac septum phenotype",
- "multi organ part structure phenotype",
- "skeletal element",
- "decreased size of the material anatomical entity in the pectoral complex",
- "Abnormal diencephalon morphology",
- "number of anatomical enitites of type endochondral bone phenotype",
- "Aplasia/hypoplasia of the extremities",
- "subdivision of tube",
- "myeloid leukocyte phenotype",
- "decreased size of the anatomical entity in the pectoral complex",
- "subdivision of head",
- "Abnormality of body weight",
- "developmental process rate phenotype",
- "hormone transport",
- "septum",
- "forelimb long bone phenotype",
- "Abnormal cardiac septum morphology",
- "eye phenotype",
- "organ",
- "regulation of biological quality phenotype",
- "Abnormal bone marrow cell morphology",
- "absent forelimb zeugopod bone",
- "Duodenal atresia",
- "absent nervous system commissure",
- "digestive system element phenotype",
- "organ part phenotype",
- "absent endochondral element in the limb",
- "segment of manus",
- "Abnormality of thumb phalanx",
- "entity",
- "subdivision of organism along appendicular axis phenotype",
- "body proper",
- "anatomical entity phenotype",
- "Abnormality of the ureter",
- "organism subdivision phenotype",
- "heart plus pericardium",
- "Abnormal cardiac atrium morphology",
- "Abnormal cellular phenotype",
- "dorsal region element phenotype",
- "absent skeletal element in the limb",
- "negative regulation of macromolecule biosynthetic process",
- "Abnormal localization of kidney",
- "arm bone phenotype",
- "head phenotype",
- "decreased length of limb bone",
- "incomplete closing of the septum",
- "fused vertebra and anatomical entity",
- "metapodium region",
- "anatomical collection",
- "subdivision of skeletal system phenotype",
- "Abnormality of the bladder",
- "Aplasia involving bones of the upper limbs",
- "decreased length of digit 1",
- "continuant",
- "Abnormality of the face",
- "decreased size of the manual digit",
- "compound organ phenotype",
- "organ phenotype",
- "decreased length of forelimb zeugopod bone",
- "heart morphology phenotype",
- "segmental subdivision of nervous system",
- "programmed DNA elimination by chromosome breakage",
- "thoracic cavity element phenotype",
+ "UPHENO:0002926",
+ "UPHENO:0086700"
+ ],
+ "has_phenotype_closure_label": [
+ "telencephalon",
+ "Abnormality of the nervous system",
+ "subdivision of organism along main body axis phenotype",
+ "Morphological central nervous system abnormality",
"craniofacial/craniocervical phenotype",
- "heart",
- "thoracic segment organ phenotype",
- "limb bone phenotype",
- "anatomical system phenotype",
- "Eukaryota",
- "Abnormality of the digestive system",
- "decreased functionality of the gland",
- "forelimb skeleton phenotype",
- "Abnormality of the thyroid gland",
- "decreased size of the multicellular anatomical structure",
- "structure with developmental contribution from neural crest physiology phenotype",
- "increased pigmentation",
- "Abnormal cell morphology",
- "cardiovascular system morphology phenotype",
- "Absent thumb",
- "nervous system process phenotype",
- "neck phenotype",
- "opening of the anatomical entity",
- "Abnormality of the cardiovascular system",
+ "cranial skeletal system phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "forebrain morphology phenotype",
+ "central nervous system morphology phenotype",
+ "head",
+ "postcranial axial skeleton",
+ "aplasia or hypoplasia of telencephalon",
+ "multi-tissue structure phenotype",
+ "Abnormal cerebral morphology",
+ "structure with developmental contribution from neural crest",
+ "cellular organisms",
+ "forebrain",
"central nervous system phenotype",
- "incomplete closing of the cardiac septum",
- "neuron projection bundle phenotype",
- "absent bone of appendage girdle complex in the forelimb",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ part",
- "cornea morphology phenotype",
- "subdivision of skeleton phenotype",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "Abnormality of the immune system",
- "nervous system phenotype",
- "absent arm bone in the forelimb",
- "Aplasia/Hypoplasia affecting the fundus",
- "absent lamina",
- "regulation of cellular metabolic process",
- "blood cell",
- "septum of telencephalon",
- "cornea, curved phenotype",
- "orbital region",
- "musculoskeletal system",
- "decreased qualitatively sensory perception",
- "agenesis of anatomical entity",
- "circulatory organ",
- "bone marrow cell",
- "vision/eye phenotype",
- "Abnormal vertebral morphology",
- "Abnormality of neutrophils",
- "trunk region element phenotype",
- "decreased number of hematopoietic cell",
- "organism substance",
- "decreased length of multicellular anatomical structure",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "digit",
- "Abnormal eye physiology",
- "material anatomical entity, asymmetrically curved phenotype",
- "forelimb zeugopod bone hypoplasia",
- "white matter of telencephalon phenotype",
- "trunk",
- "Hypothyroidism",
- "hematopoietic system phenotype",
- "metencephalon phenotype",
- "organ component layer phenotype",
- "skeletal system",
- "appendicular skeleton",
- "number of leukocyte phenotype",
- "decreased number of material anatomical entity",
- "material anatomical entity, curved phenotype",
- "forelimb morphology phenotype",
- "skeletal system phenotype",
- "primary circulatory organ",
- "Growth abnormality",
- "Functional abnormality of the middle ear",
- "neutrophil",
- "cell phenotype",
- "ectoderm-derived structure physiology phenotype",
- "Conductive hearing impairment",
- "sensory system",
- "number of anatomical enitites of type granulocyte phenotype",
- "long bone",
- "sensory system phenotype",
- "manus phenotype",
- "limb",
- "face",
- "system process phenotype",
- "decreased height of the anatomical entity",
- "Abnormal ventricular septum morphology",
- "motile cell",
- "decreased size of the digit",
- "manual digit 1 phalanx endochondral element",
- "eukaryotic cell",
- "cardiac atrium morphology phenotype",
- "bone cell",
- "visual system phenotype",
- "hemolymphoid system",
- "myeloid leukocyte",
- "nucleate cell",
- "endochondral element",
- "Abnormality of the musculoskeletal system",
- "Abnormal myeloid cell morphology",
- "Abnormal neutrophil count",
- "number of anatomical enitites of type axon tract phenotype",
- "Neutropenia",
- "zeugopod",
- "white matter of telencephalon",
- "incomplete closing of the anatomical entity",
- "photoreceptor array",
- "musculoskeletal system phenotype",
- "endoderm-derived structure phenotype",
- "organ subunit phenotype",
- "Abnormal cerebellum morphology",
- "export from cell",
- "axon tract morphology phenotype",
- "immune system phenotype",
- "gland morphology phenotype",
- "head morphology phenotype",
- "cell",
- "Abnormal musculoskeletal physiology",
- "Abnormal morphology of the radius",
- "decreased number of myeloid cell",
- "entire sense organ system",
- "organ subunit",
- "absent forelimb long bone",
- "retina morphology phenotype",
- "craniocervical region",
- "regulation of cellular process",
- "hematopoietic system",
- "cerebral hemisphere morphology phenotype",
- "material anatomical entity physiology phenotype",
- "Abnormality of refraction",
- "incomplete closing of the multicellular anatomical structure",
- "multi cell part structure phenotype",
- "decreased length of neck",
- "white matter of forebrain",
- "decreased size of the gland of diencephalon",
- "absent material anatomical entity",
- "mesoderm-derived structure phenotype",
- "pituitary gland morphology phenotype",
- "absent organism subdivision",
- "anterior region of body",
- "Abnormality of the orbital region",
- "simple eye physiology phenotype",
- "neck",
- "craniocervical region phenotype",
- "Myopia",
- "diencephalon",
- "lateral structure physiology phenotype",
- "hindbrain morphology phenotype",
- "subdivision of vertebral column phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manual digit 1 or 5",
- "eye physiology phenotype",
- "erythrocyte morphology phenotype",
- "lateral structure",
- "ectoderm-derived structure",
- "number of platelet phenotype",
- "granulocyte",
- "Morphological central nervous system abnormality",
- "visual system",
- "decreased anatomical structure development",
- "lateral structure phenotype",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "absent limb bone in the limb",
- "anatomical structure physiology phenotype",
- "nervous system morphology phenotype",
- "Abnormality of joint mobility",
- "metapodium bone phenotype",
- "arm",
- "skeleton of limb phenotype",
- "Short forearm",
- "growth phenotype",
- "sensory perception of mechanical stimulus",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "Abnormality of the upper urinary tract",
- "aplastic forelimb zeugopod bone",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "immune system morphology phenotype",
- "absent endochondral bone in the limb",
- "endochondral bone",
- "Abnormality of limbs",
- "absent material anatomical entity in the limb",
- "Abnormal small intestine morphology",
- "Abnormal granulocyte count",
- "absent mesoderm-derived structure",
- "Abnormal anterior eye segment morphology",
- "fused anatomical entity and cervical vertebra",
- "excretory tube",
- "absent limb endochondral element in the limb",
- "erythrocyte",
- "artery",
- "cardiac septum",
- "absent endochondral bone",
- "absent anatomical structure in the limb",
- "serotonin secreting cell",
- "lamina phenotype",
- "Thrombocytopenia",
- "platelet",
- "Abnormal platelet morphology",
- "non-connected functional system",
- "decreased number of granulocyte",
- "platelet phenotype",
- "cervical vertebra endochondral element phenotype",
- "Abnormal forearm bone morphology",
- "secretory cell",
- "anatomical entity dysfunction in independent continuant",
- "Abnormal platelet count",
- "multicellular organism development",
- "structure with developmental contribution from neural crest, curved phenotype",
- "endocrine gland physiology phenotype",
- "establishment of localization phenotype",
- "Chromosome breakage",
- "Abnormality of thrombocytes",
- "cardiovascular system",
- "Abnormal skeletal morphology",
+ "Abnormal skull morphology",
+ "size of skull phenotype",
+ "Abnormality of skull size",
+ "structure with developmental contribution from neural crest phenotype",
+ "skull phenotype",
+ "main body axis",
+ "skull morphology phenotype",
+ "craniocervical region morphology phenotype",
+ "Decreased head circumference",
"Eumetazoa",
- "manus morphology phenotype",
- "digit phenotype",
- "Abnormal circulating hormone concentration",
"regional part of brain",
- "manual digit plus metapodial segment",
- "absent multi cell part structure",
- "Aplasia/Hypoplasia of fingers",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased length of forelimb long bone",
+ "central nervous system",
+ "Abnormal axial skeleton morphology",
+ "head morphology phenotype",
+ "postcranial axial skeletal system",
+ "telencephalon morphology phenotype",
+ "craniocervical region phenotype",
+ "body proper",
+ "Aplasia/Hypoplasia of the cerebrum",
+ "head phenotype",
+ "regional part of nervous system phenotype",
+ "Microcephaly",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "craniocervical region",
+ "closing of the ectoderm-derived structure",
+ "cranial skeletal system",
+ "digestive system",
"decreased length of manual digit 1 or 5",
- "manual digit 1 plus metapodial segment",
- "digit 1 phenotype",
- "digit 1",
- "sensory perception of mechanical stimulus phenotype",
- "absent anatomical entity in the brain ventricle/choroid plexus",
- "decreased size of the autopodial extension",
- "upper urinary tract phenotype",
- "regulation of cellular metabolic process phenotype",
- "Aplasia/Hypoplasia of the thumb",
- "manual digit morphology in the manus phenotype",
- "absent tissue in the multicellular organism",
- "manus",
- "Abnormal hand morphology",
- "absent material anatomical entity in the brain",
- "Abnormality of metabolism/homeostasis",
- "acropodial skeleton",
- "Short thumb",
- "Abnormality of the hand",
- "skull",
- "skeleton of manus",
- "vertebra morphology phenotype",
- "Abnormal finger morphology",
- "decreased length of limb long bone",
- "aplasia or hypoplasia of manual digit",
- "autopodial extension",
- "commissure of telencephalon",
- "formed cerebellum",
- "absent organ in the forelimb",
- "decreased functionality of the material anatomical entity",
- "Short digit",
- "autopod region morphology phenotype",
- "autopod region phenotype",
+ "regulation of gene expression phenotype",
"closing of the anatomical entity",
- "anatomical system physiology phenotype",
- "renal/urinary system phenotype",
- "Short finger",
- "erythroid lineage cell morphology phenotype",
- "neuron projection bundle",
- "closing of the ectoderm-derived structure",
- "regulation of biological process",
- "Abnormal cerebral subcortex morphology",
- "decreased length of digit",
- "autopodial skeleton",
- "Abnormality of the skeletal system",
+ "limb bone",
+ "anus atresia",
+ "anatomical structure atresia",
+ "digestive system morphology phenotype",
+ "brain",
+ "myeloblast",
+ "anatomical entity atresia",
+ "anus phenotype",
+ "anatomical conduit",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "closing of the material anatomical entity",
+ "Acute lymphoblastic leukemia",
+ "hematopoietic cell",
+ "anatomical entity height phenotype",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "Acute myeloid leukemia",
+ "Decreased anatomical entity mass",
"digit plus metapodial segment",
- "decreased length of manual digit",
- "Abnormal finger phalanx morphology",
- "Abnormal skin morphology",
- "decreased length of autopodial extension",
- "multicellular anatomical structure physiology phenotype",
- "renal pelvis/ureter",
- "axial skeleton plus cranial skeleton morphology phenotype",
- "decreased length of digit 1 or 5",
- "cardiac ventricle phenotype",
- "multi organ part structure physiology phenotype",
- "upper urinary tract",
- "digit 1 or 5 phenotype",
- "anatomical entity morphology in the manus phenotype",
- "posterior segment of eyeball morphology phenotype",
- "multi-tissue structure",
- "malformed anatomical entity",
- "autopod endochondral element",
- "decreased length of mesoderm-derived structure",
- "sac physiology phenotype",
- "central nervous system",
- "posterior segment of eyeball",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "ocular fundus",
- "Abnormal joint morphology",
- "anatomical wall phenotype",
- "decreased size of the forelimb bone",
- "Neurodevelopmental abnormality",
- "multi-limb segment region",
- "decreased size of the bone element",
- "optic disc morphology phenotype",
- "negative regulation of metabolic process",
- "Abnormal fundus morphology",
- "granulocyte morphology phenotype",
- "multicellular organism development phenotype",
- "Opisthokonta",
- "cranial nerve II",
- "Abnormal posterior eye segment morphology",
- "endocrine system morphology phenotype",
- "organ physiology phenotype",
- "retina phenotype",
- "decreased embryo development",
- "organism",
- "organ component layer",
- "ear morphology phenotype",
- "decreased size of the organism subdivision",
- "segment of autopod",
+ "material anatomical entity mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "anatomical entity mass phenotype",
+ "decreased size of the multicellular organism",
+ "Failure to thrive",
+ "Decreased body weight",
+ "Abnormality of chromosome stability",
+ "negative regulation of biological process",
+ "negative regulation of gene expression",
+ "manual digit 1 plus metapodial segment",
+ "organism subdivision",
+ "biological regulation",
+ "decreased growth",
+ "cellular process",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "decreased material anatomical entity mass",
+ "obsolete regulation of cellular metabolic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "regulation of macromolecule metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "endochondral bone phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "integument",
+ "decreased length of anatomical structure",
+ "pigmentation",
+ "increased biological_process in skin of body",
+ "Abnormal cellular physiology",
+ "Abnormality of skin pigmentation",
"Metazoa",
- "vertebral column morphology phenotype",
- "Abnormal optic nerve morphology",
- "Abnormal nervous system morphology",
- "absent ectoderm-derived structure in the brain ventricle",
- "root",
- "cranial neuron projection bundle phenotype",
- "chorioretinal region",
- "endoderm-derived structure",
- "Abnormality of the nervous system",
- "axon tract",
- "decreased qualitatively system process",
- "digestive system",
- "biological regulation phenotype",
- "metapodium bone 1",
- "phalanx",
- "peptide hormone secretion",
- "Abnormal retinal morphology",
- "cellular organisms",
- "digestive system morphology phenotype",
+ "increased qualitatively biological_process",
"nervous system",
- "Abnormal optic disc morphology",
- "cranial nerve II morphology phenotype",
- "ureter physiology phenotype",
- "intestine atresia",
- "Optic disc pallor",
+ "multicellular organismal process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Abnormal skin morphology",
+ "negative regulation of biological process phenotype",
+ "digestive system phenotype",
+ "increased pigmentation",
+ "skin of body phenotype",
+ "ectoderm-derived structure",
+ "Macule",
+ "skeleton of limb phenotype",
+ "orifice atresia",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "Abnormality of the digestive system",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "integument phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "nucleate cell",
+ "Abnormality of the anus",
+ "tube phenotype",
+ "endochondral bone",
+ "Abnormal immune system morphology",
+ "Neoplasm by anatomical site",
+ "myeloid cell",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "brain phenotype",
"biological_process phenotype",
+ "decreased embryo development",
+ "homeostatic process phenotype",
+ "decreased developmental process",
"Intrauterine growth retardation",
- "Growth delay",
- "number of anatomical enitites of type intercerebral commissure phenotype",
- "regulation of biological quality",
- "cavitated compound organ phenotype",
- "decreased multicellular organism development",
- "Aplasia/Hypoplasia of the cerebrum",
- "absent organ",
- "process",
+ "decreased qualitatively multicellular organism development",
+ "manual digit 1 morphology phenotype",
+ "Hyperpigmentation of the skin",
"embryo development",
- "anatomical collection phenotype",
- "occurrent",
"biological_process",
- "musculature of body",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "neural crest-derived structure, curved phenotype",
+ "regulation of cellular process phenotype",
+ "process",
+ "biological regulation phenotype",
+ "nervous system morphology phenotype",
+ "musculature of body phenotype",
+ "skeletal system",
+ "Leukemia",
"developmental process",
- "Hypermelanotic macule",
- "skull phenotype",
- "hindbrain",
- "secretion",
- "multicellular organismal process phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development",
+ "Abnormal leukocyte morphology",
+ "decreased qualitatively embryo development",
+ "multicellular organism development phenotype",
+ "developmental process phenotype",
+ "decreased qualitatively developmental process",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body weight",
"delayed biological_process",
- "regulation of gene expression phenotype",
- "decreased developmental process",
- "regulation of macromolecule biosynthetic process phenotype",
- "material anatomical entity phenotype",
- "decreased qualitatively multicellular organism development",
+ "developmental process rate phenotype",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "anatomical structure development phenotype",
+ "Abnormal hand morphology",
+ "decreased anatomical structure development",
+ "biological_process rate phenotype",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "skin of body morphology phenotype",
+ "Bone marrow hypocellularity",
+ "decreased height of the anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "bone marrow cell",
+ "bone marrow",
+ "eukaryotic cell",
+ "Chromosome breakage",
+ "Abnormality of the head",
+ "hematopoietic system",
+ "disconnected anatomical group",
+ "metabolic process",
+ "decreased biological_process",
+ "Abnormality of the skeletal system",
+ "bone cell",
+ "precursor cell",
+ "aplasia or hypoplasia of anatomical entity",
+ "non-connected functional system",
+ "tissue",
+ "hematopoietic system phenotype",
+ "Phenotypic abnormality",
+ "digestive tract",
+ "Abnormality of blood and blood-forming tissues",
"embryo development phenotype",
- "delayed growth",
+ "anatomical conduit phenotype",
+ "limb segment",
+ "multicellular organismal process phenotype",
+ "digit",
+ "root",
+ "limb",
+ "Abnormal nervous system morphology",
+ "Short digit",
+ "pectoral appendage",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
"decreased multicellular organismal process",
- "decreased qualitatively developmental process",
- "decreased length of endochondral bone",
- "cavitated compound organ physiology phenotype",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "Macule",
- "eyeball of camera-type eye",
- "decreased system process",
- "multi organ part structure",
- "growth",
- "decreased sensory perception",
- "nervous system process",
- "thyroid gland physiology phenotype",
- "Abnormality of the ear",
- "Absent septum pellucidum",
- "intestine",
- "decreased size of the limb bone",
- "sensory perception",
- "Abnormal ear morphology",
- "anterior segment of eyeball",
- "absent endochondral bone in the forelimb",
- "Abnormality of the middle ear",
- "phalanx of manus",
- "Hearing abnormality",
- "Microcephaly",
- "decreased sensory perception of mechanical stimulus",
- "nitrogen compound transport",
- "vibrational conductance of sound to the inner ear",
- "Abnormality of the hypothalamus-pituitary axis",
- "absent forelimb bone in the forelimb",
- "optic disc",
- "ear phenotype",
- "absent radius bone",
- "decreased sensory perception of sound",
- "decreased qualitatively sensory perception of sound",
- "aplasia or hypoplasia of telencephalon",
- "aplastic manual digit 1",
- "paired limb/fin skeleton",
- "absent manual digit",
- "kidney morphology phenotype",
- "number of anatomical enitites of type organism subdivision phenotype",
- "absent material anatomical entity in the forelimb",
- "absent autopodial extension",
- "vertebral element",
- "negative regulation of biosynthetic process",
- "absent digit",
- "Finger aplasia",
- "Microphthalmia",
- "heart phenotype",
- "cranial skeletal system",
- "Aplasia/Hypoplasia affecting the eye",
- "vasculature phenotype",
- "incomplete closing of the blood vessel",
- "decreased size of the ectoderm-derived structure",
- "ectoderm-derived structure atresia",
- "decreased size of the sense organ",
- "decreased size of the eyeball of camera-type eye",
- "endoderm-derived structure physiology phenotype",
- "decreased functionality of the endocrine gland",
- "Abnormal ureter physiology",
- "transport phenotype",
- "absent limb endochondral element",
- "digit 1 or 5",
- "central nervous system cell part cluster phenotype",
- "endocrine gland phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "decreased functionality of the structure with developmental contribution from neural crest",
- "skeletal system morphology phenotype",
- "decreased functionality of the thyroid gland",
- "absent limb endochondral element in the forelimb",
- "hematopoietic cell",
- "glandular system",
- "neck bone phenotype",
- "localization phenotype",
- "sensory perception phenotype",
- "endocrine gland",
- "decreased length of arm bone",
- "Abnormality of thyroid physiology",
- "decreased functionality of the multicellular anatomical structure",
- "ocular surface region morphology phenotype",
- "Abnormality of the endocrine system",
- "decreased functionality of the organ",
- "thyroid gland",
- "segmental subdivision of hindbrain phenotype",
- "gland",
- "dorsum",
- "bone element phenotype",
- "decreased functionality of the anatomical structure",
- "Cerebellar malformation",
- "formed multi-tissue structure",
- "brain",
- "negative regulation of biological process phenotype",
- "duodenum",
- "Abnormal hindbrain morphology",
- "intestine phenotype",
- "regulation of cellular biosynthetic process",
- "autopod endochondral element phenotype",
- "cerebellum phenotype",
- "regulation of cellular biosynthetic process phenotype",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "bone of free limb or fin phenotype",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Short stature",
+ "subdivision of organism along appendicular axis",
+ "arm",
+ "lateral structure phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "axial skeletal system",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
+ "appendicular skeleton morphology phenotype",
+ "multi-tissue structure",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "anatomical collection",
+ "Abnormal brain morphology",
+ "autopod region",
"closing of the anatomical structure",
- "Chiari malformation",
- "formed multicellular anatomical structure",
- "fused vertebra and bony vertebral centrum",
- "incomplete closing of the mesoderm-derived structure",
- "Aplasia/Hypoplasia of the optic nerve",
- "structure with developmental contribution from neural crest",
- "incomplete closing of the material anatomical entity",
- "regional part of nervous system",
- "formed regional part of nervous system",
- "nervous system commissure",
- "formed regional part of brain",
- "neural crest-derived structure phenotype",
+ "multi-limb segment region",
+ "decreased anatomical structure mass",
+ "telencephalon phenotype",
+ "manual digit 1 or 5",
+ "increased biological_process",
+ "anatomical structure development",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "bone element",
+ "digit 1 plus metapodial segment",
+ "Chromosomal breakage induced by crosslinking agents",
+ "manual digit morphology in the manus phenotype",
+ "decreased qualitatively biological_process",
+ "anatomical system phenotype",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "subdivision of organism along appendicular axis phenotype",
+ "negative regulation of cellular process phenotype",
+ "musculature of body",
+ "paired limb/fin",
+ "multicellular organism morphology phenotype",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "decreased multicellular anatomical structure mass",
+ "upper limb segment phenotype",
"material anatomical entity",
- "brain phenotype",
- "Abnormality of body height",
- "forelimb long bone",
- "brain morphology phenotype",
- "hindbrain phenotype",
- "cerebellum morphology phenotype",
- "Synostosis of joints",
- "eye",
- "Abnormal brain morphology",
- "skeletal joint",
- "cardiac septum morphology phenotype",
- "articulation phenotype",
- "Abnormal joint physiology",
- "Global developmental delay",
- "commissure of telencephalon phenotype",
+ "mesoderm-derived structure phenotype",
+ "material entity",
+ "Aplasia/hypoplasia involving the skeleton",
+ "subdivision of skeleton",
"manual digit",
- "vertebral element phenotype",
- "Abnormality of the genital system",
- "systemic artery phenotype",
- "cervical region",
- "aplasia or hypoplasia of metacarpal bone",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "negative regulation of cellular process phenotype",
- "fused anatomical entity and skeletal joint",
- "absent forelimb endochondral element in the forelimb",
- "cervical vertebra morphology phenotype",
- "axial skeletal system",
- "postcranial axial skeletal system",
- "axial skeleton plus cranial skeleton",
- "decreased number of cell",
- "axial skeleton plus cranial skeleton phenotype",
- "anatomical structure, curved phenotype",
- "vertebral column phenotype",
- "chemical entity",
- "dorsal region element",
- "dorsal part of neck",
- "regulation of macromolecule metabolic process phenotype",
- "neck bone",
- "alimentary part of gastrointestinal system morphology phenotype",
- "irregular bone",
- "pectoral complex",
- "cervical region of vertebral column",
- "absent mesoderm-derived structure in the multicellular organism",
- "renal system",
- "digitopodium bone",
- "Fused cervical vertebrae",
- "neck morphology phenotype",
- "forelimb skeleton",
- "decreased length of bone of free limb or fin",
- "trunk or cervical vertebra",
- "articulation",
- "programmed DNA elimination",
- "Abnormality of skull size",
- "segmental subdivision of hindbrain",
- "cervical vertebra endochondral element",
- "fused skeletal joint and anatomical entity",
- "abdominal segment element",
- "Abnormal cellular physiology",
- "limb long bone phenotype",
- "Vertebral segmentation defect",
- "fused vertebra and vertebra",
- "dorsal part of neck morphology phenotype",
- "skeletal joint phenotype",
- "fused anatomical entity and anatomical entity",
- "brain ventricle/choroid plexus",
- "fused anatomical entity and vertebra",
- "regulation of macromolecule biosynthetic process",
- "articular system",
- "Abnormal axial skeleton morphology",
- "gray matter of forebrain phenotype",
- "Abnormality of the vertebral column",
- "skeletal element phenotype",
- "establishment of localization",
- "cardiac atrium",
- "skeletal joint morphology phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "blood",
- "absent anatomical entity in the limb",
- "Abnormal eye morphology",
- "signal release phenotype",
- "amide transport",
- "negative regulation of cellular process",
- "decreased number of platelet",
- "formed material anatomical entity",
- "peptide secretion",
- "peptide secretion phenotype",
- "transport",
- "programmed DNA elimination by chromosome breakage phenotype",
- "absent long bone in the forelimb",
- "haemolymphatic fluid",
- "aplasia or hypoplasia of metacarpal bone of digit 1",
- "cellular process",
- "localization",
- "aplasia or hypoplasia of manual digit 1 phalanx",
- "decreased length of forelimb bone",
- "aplasia or hypoplasia of cranial nerve II",
- "Neurodevelopmental delay",
- "Abnormal corpus callosum morphology",
- "growth hormone secretion",
- "decreased length of manual digit 1 phalanx",
+ "anatomical entity morphology phenotype",
+ "system",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "manual digit phenotype",
+ "taxon specific phenotype",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "skeletal element phenotype",
+ "appendage",
+ "organism subdivision phenotype",
+ "All",
+ "decreased length of digit",
+ "Abnormality of the hand",
+ "organ phenotype",
+ "autopod region morphology phenotype",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "axial skeleton plus cranial skeleton",
+ "Opisthokonta",
+ "paired limb/fin skeleton",
+ "decreased qualitatively growth",
+ "limb phenotype",
+ "appendage girdle complex",
+ "Abnormal appendicular skeleton morphology",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "skin of body",
"decreased length of manual digit 1",
- "amide transport phenotype",
- "urinary bladder",
- "cellular process phenotype",
- "arterial system",
- "cell communication",
- "multicellular anatomical structure mass phenotype",
- "Abnormality of the genitourinary system",
- "absent dorsal telencephalic commissure",
- "incomplete closing of the arterial blood vessel",
+ "Abnormal forebrain morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "skeleton of manus",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "pectoral appendage skeleton",
+ "Hematological neoplasm",
+ "limb morphology phenotype",
+ "mesoderm-derived structure",
+ "growth phenotype",
+ "organ system subdivision",
+ "immune system",
"anatomical conduit atresia",
- "radius bone hypoplasia",
- "anatomical entity hypoplasia",
- "peptide transport phenotype",
- "absent radius bone in the forelimb",
- "mesoderm-derived structure morphology in the heart phenotype",
- "bodily fluid",
- "manus bone",
- "growth hormone secretion phenotype",
- "Abnormal lateral ventricle morphology",
- "bladder organ physiology phenotype",
- "Abnormality of the neck",
- "Abnormal neck morphology",
- "Abnormality of the cervical spine",
- "anatomical cluster phenotype",
- "integument phenotype",
- "renal system phenotype",
- "decreased length of organism subdivision",
- "Short neck",
- "nervous system physiology phenotype",
- "obsolete cell",
- "negative regulation of macromolecule metabolic process",
- "regulation of biosynthetic process phenotype",
- "regulation of metabolic process phenotype",
- "negative regulation of biological process",
- "regulation of metabolic process",
- "organ system subdivision phenotype",
- "urinary bladder physiology phenotype",
+ "Abnormality of the upper limb",
+ "Irregular hyperpigmentation",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "occurrent",
+ "digit 1 phenotype",
+ "cell",
+ "limb endochondral element phenotype",
"homeostatic process",
- "negative regulation of gene expression",
- "pectoral appendage phenotype",
- "decreased qualitatively nervous system process",
- "negative regulation of gene expression phenotype",
- "homeostatic process phenotype",
- "regulation of cellular process phenotype",
+ "arm phenotype",
+ "anterior region of body",
+ "subdivision of skeleton phenotype",
+ "Abnormal digit morphology",
+ "Abnormal anus morphology",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "acropodium region",
+ "autopodial skeleton",
+ "appendicular skeleton phenotype",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "regulation of cellular process",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "decreased length of manual digit",
+ "aplasia or hypoplasia of manual digit 1",
+ "multicellular anatomical structure mass phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "continuant",
+ "hemolymphoid system",
+ "decreased size of the manual digit",
+ "manual digitopodium region",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "decreased size of the autopodial extension",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
- "regulation of macromolecule metabolic process",
- "Abnormality of chromosome stability",
- "Abnormal cerebral morphology",
- "bone of dorsum phenotype",
- "forebrain morphology phenotype",
- "cranial neuron projection bundle",
- "telencephalic ventricle",
- "decreased qualitatively multicellular organismal process",
- "ventricle of nervous system",
- "ureter",
- "bone marrow",
- "ventricular system of central nervous system",
- "brain ventricle/choroid plexus morphology phenotype",
- "system process",
- "brain ventricle/choroid plexus phenotype",
- "number of anatomical enitites of type endochondral element phenotype",
- "telencephalon",
- "reproductive gland phenotype",
- "forebrain",
- "telencephalon morphology phenotype",
- "decreased length of metapodium bone",
- "Aplasia/hypoplasia involving bones of the hand",
- "Colpocephaly",
- "brain ventricle phenotype",
- "telencephalon phenotype",
- "telencephalic ventricle morphology phenotype",
- "Abnormal forebrain morphology",
- "compound organ physiology phenotype",
- "bladder organ phenotype",
- "excretory tube phenotype",
- "incomplete closing of the anatomical conduit",
- "abdominal segment of trunk",
- "cavitated compound organ",
- "sac",
- "pelvic region element",
- "increased biological_process in skin of body",
- "Abnormal myeloid leukocyte morphology",
- "genitourinary system phenotype",
- "lower urinary tract phenotype",
- "manual digit 1 phalanx",
- "urinary bladder phenotype",
- "kidney",
- "incomplete closing of the anatomical structure",
- "viscus physiology phenotype",
- "trunk region element physiology phenotype",
- "face phenotype",
- "Abnormality of the urinary system",
+ "manus",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "skeleton of pectoral complex",
+ "anatomical entity",
+ "skull",
+ "decreased size of the anatomical structure",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "manual digit plus metapodial segment",
+ "appendage phenotype",
+ "closing of the multicellular anatomical structure",
+ "phenotype",
+ "appendicular skeletal system",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "digit 1",
+ "tube",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "delayed growth",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "bone element phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "negative regulation of metabolic process",
+ "Short finger",
"skeleton",
- "sac phenotype",
- "Abnormal leukocyte count",
- "bladder organ",
- "Abnormality of the lower urinary tract",
- "pelvic region of trunk",
- "abdominal segment element phenotype",
- "genitourinary system",
- "cardiovascular system phenotype",
- "secretion phenotype",
- "anatomical cluster",
- "size of skull phenotype",
- "upper limb segment phenotype",
- "Abnormal skull morphology",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "cranial skeletal system phenotype",
- "Atresia of the external auditory canal",
- "number of anatomical enitites of type anatomical structure phenotype",
- "external acoustic meatus morphology phenotype",
- "regulation of hormone levels phenotype",
- "immune system",
- "closing of the anatomical conduit"
+ "multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "integumental system",
+ "Abnormal finger morphology",
+ "Abnormal digestive system morphology",
+ "ectoderm-derived structure atresia",
+ "decreased length of multicellular anatomical structure",
+ "bone of appendage girdle complex phenotype",
+ "decreased multicellular organism development",
+ "musculoskeletal system",
+ "digit phenotype",
+ "Abnormal cellular immune system morphology",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "T-cell acute lymphoblastic leukemias",
+ "anatomical structure mass phenotype",
+ "musculoskeletal system phenotype",
+ "multicellular organism",
+ "skeleton phenotype",
+ "decreased length of autopodial extension",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "musculature",
+ "regional part of nervous system",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "material anatomical entity phenotype",
+ "Localized skin lesion",
+ "phenotypic effect",
+ "decreased length of organism subdivision",
+ "Abnormality of the immune system",
+ "anatomical entity phenotype",
+ "decreased length of digit 1",
+ "skeletal element",
+ "subdivision of organism along main body axis",
+ "regulation of biological process phenotype",
+ "multicellular anatomical structure",
+ "forebrain phenotype",
+ "limb segment phenotype",
+ "limb bone phenotype",
+ "digit 1 or 5",
+ "Abnormal limb bone morphology",
+ "forelimb phenotype",
+ "embryo development rate phenotype",
+ "pectoral appendage phenotype"
],
- "has_phenotype_count": 44,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0012187",
+ "id": "MONDO:0013248",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group J",
+ "name": "Fanconi anemia complementation group O",
"full_name": null,
"deprecated": null,
- "description": "Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.",
"xref": [
- "DOID:0111097",
- "GARD:15449",
- "MEDGEN:323015",
- "MESH:C563801",
- "NCIT:C129027",
- "OMIM:609054",
- "UMLS:C1836860"
+ "DOID:0111096",
+ "GARD:15656",
+ "MEDGEN:462003",
+ "OMIM:613390",
+ "UMLS:C3150653"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCJ",
- "Fanconi Anemia, complementation group type J",
- "Fanconi anaemia complementation group type J",
- "Fanconi anemia complementation group J",
- "Fanconi anemia complementation group type J",
- "Fanconi anemia, complementation group J"
+ "FANCO",
+ "Fanconi Anemia, complementation group type O",
+ "Fanconi anaemia caused by mutation in RAD51C",
+ "Fanconi anaemia caused by mutation in Rad51C",
+ "Fanconi anaemia complementation group type O",
+ "Fanconi anemia caused by mutation in RAD51C",
+ "Fanconi anemia caused by mutation in Rad51C",
+ "Fanconi anemia complementation group type O",
+ "Fanconi anemia, complementation group O",
+ "RAD51C Fanconi anaemia",
+ "RAD51C Fanconi anemia",
+ "Rad51C Fanconi anaemia",
+ "Rad51C Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0000126",
+ "HP:0002984",
+ "HP:0000028",
"HP:0009778",
- "HP:0005528",
- "HP:0001511",
- "HP:0007565",
- "HP:0008897",
- "HP:0000568",
- "HP:0001263",
- "HP:0003221"
+ "HP:0009623",
+ "HP:0009777",
+ "HP:0001627",
+ "HP:0000107",
+ "HP:0040012",
+ "HP:0003241",
+ "HP:0004322",
+ "HP:0001245",
+ "HP:0002023",
+ "HP:0003774",
+ "HP:0025023"
],
"has_phenotype_label": [
+ "Hydronephrosis",
+ "Hypoplasia of the radius",
+ "Cryptorchidism",
"Short thumb",
- "Bone marrow hypocellularity",
- "Intrauterine growth retardation",
- "Multiple cafe-au-lait spots",
- "Postnatal growth retardation",
- "Microphthalmia",
- "Global developmental delay",
- "Chromosomal breakage induced by crosslinking agents"
+ "Proximal placement of thumb",
+ "Absent thumb",
+ "Abnormal heart morphology",
+ "Renal cyst",
+ "Chromosome breakage",
+ "External genital hypoplasia",
+ "Short stature",
+ "Small thenar eminence",
+ "Anal atresia",
+ "Stage 5 chronic kidney disease",
+ "Rectal atresia"
],
"has_phenotype_closure": [
+ "UBERON:0013765",
+ "UPHENO:0084771",
+ "UPHENO:0002988",
+ "UPHENO:0005046",
+ "UPHENO:0063639",
+ "UBERON:0000160",
+ "UBERON:0001052",
+ "UBERON:0001353",
+ "UBERON:0000481",
+ "HP:0002242",
+ "HP:0002589",
+ "UPHENO:0002714",
+ "UPHENO:0002725",
+ "UPHENO:0074310",
+ "UPHENO:0063629",
+ "HP:0012718",
+ "UPHENO:0063615",
+ "UPHENO:0087346",
+ "UBERON:0004921",
+ "UBERON:0012361",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UPHENO:0002902",
+ "NCBITaxon:33154",
+ "HP:0025023",
+ "UPHENO:0002360",
+ "UPHENO:0002267",
+ "UPHENO:0002422",
+ "UPHENO:0002426",
+ "UPHENO:0002269",
+ "HP:0012211",
+ "HP:0000083",
+ "UPHENO:0002377",
+ "HP:0011277",
+ "UPHENO:0002246",
+ "UBERON:0000025",
+ "HP:0025033",
+ "UBERON:0001245",
+ "UPHENO:0063577",
+ "UPHENO:0002833",
+ "HP:0025031",
+ "UPHENO:0063594",
+ "UPHENO:0086644",
+ "HP:0011100",
+ "HP:0004378",
+ "HP:0002023",
+ "UPHENO:0002548",
+ "UBERON:0001007",
+ "UPHENO:0002859",
+ "UPHENO:0063581",
+ "UPHENO:0063565",
+ "UPHENO:0002839",
+ "UPHENO:0074237",
+ "UPHENO:0003045",
+ "UPHENO:0076710",
+ "HP:0011805",
+ "UBERON:0008837",
+ "UBERON:0007271",
+ "UPHENO:0002546",
+ "UPHENO:0063558",
+ "UBERON:0008878",
+ "UPHENO:0002647",
+ "HP:0001245",
+ "UPHENO:0003047",
+ "UBERON:0007269",
+ "UPHENO:0002852",
+ "HP:0009127",
+ "HP:0001227",
+ "UPHENO:0003057",
+ "UPHENO:0075159",
+ "UPHENO:0000543",
+ "UPHENO:0069254",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "HP:0003241",
+ "UBERON:0017716",
+ "GO:0010468",
+ "GO:0008152",
+ "HP:0025354",
+ "UPHENO:0050126",
+ "GO:0008150",
+ "BFO:0000015",
+ "UBERON:0000161",
+ "UPHENO:0086172",
+ "UPHENO:0049587",
+ "GO:0060255",
"GO:0009889",
- "GO:0048523",
- "UPHENO:0049743",
- "UPHENO:0049868",
+ "GO:0009892",
+ "GO:0050789",
+ "HP:0002034",
+ "BFO:0000003",
+ "GO:0010556",
+ "GO:0010605",
+ "GO:0031326",
+ "UPHENO:0074230",
+ "GO:0005623",
"UPHENO:0050040",
- "HP:0003221",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UPHENO:0049757",
+ "GO:0010629",
+ "UPHENO:0002411",
"UPHENO:0049904",
- "UPHENO:0050784",
"GO:0019222",
- "UPHENO:0049620",
- "UPHENO:0049642",
- "GO:0010556",
- "GO:0031326",
- "GO:0010605",
- "UPHENO:0050065",
- "UPHENO:0050063",
- "UPHENO:0050435",
- "GO:0031052",
- "UPHENO:0050025",
- "HP:0001939",
- "GO:0031327",
- "GO:0008152",
- "GO:0042592",
+ "GO:0048523",
+ "GO:0050794",
+ "GO:0048519",
"UPHENO:0050778",
- "UPHENO:0002269",
- "HP:0012758",
- "UPHENO:0002385",
- "UPHENO:0004523",
- "HP:0000707",
- "HP:0012638",
- "HP:0001263",
- "UBERON:0001016",
- "UBERON:0000019",
- "UPHENO:0069523",
- "UPHENO:0049757",
- "UBERON:0000047",
- "UBERON:0000020",
- "UPHENO:0002928",
- "UPHENO:0002844",
- "UPHENO:0087924",
- "HP:0000478",
- "HP:0100887",
- "UPHENO:0086589",
- "UPHENO:3000007",
- "UBERON:0001456",
- "UBERON:0004088",
- "UPHENO:0002764",
- "UBERON:0013701",
- "HP:0000568",
- "UPHENO:0075219",
- "UPHENO:0078606",
- "GO:0005623",
- "UPHENO:0069064",
- "UPHENO:0003025",
- "UPHENO:0004757",
- "UBERON:0002104",
+ "UPHENO:0076803",
+ "MPATH:603",
+ "UPHENO:0076810",
+ "UPHENO:0004831",
+ "HP:0030680",
+ "UBERON:0015410",
+ "UBERON:0015228",
+ "UBERON:0013522",
+ "UPHENO:0002308",
+ "UBERON:0005181",
+ "HP:0001626",
+ "UPHENO:0004827",
"UBERON:0010314",
- "UPHENO:0068914",
- "UPHENO:0080209",
- "UBERON:0000033",
- "UBERON:0007811",
- "UBERON:0013702",
- "UPHENO:0005058",
- "UPHENO:0004494",
- "HP:0008897",
- "HP:0001034",
- "HP:0007400",
- "UPHENO:0054957",
- "HP:0007565",
- "UPHENO:0002548",
- "UPHENO:0003811",
- "UPHENO:0074575",
- "UPHENO:0074584",
- "HP:0000953",
- "UPHENO:0050008",
- "UBERON:0002097",
- "HP:0012372",
- "HP:0001000",
- "UPHENO:0080662",
- "UPHENO:0004064",
- "HP:0012733",
- "GO:0043473",
- "UBERON:0002199",
- "UPHENO:0002861",
- "UBERON:0000475",
- "UBERON:0002371",
- "UPHENO:0003020",
- "UPHENO:0003049",
- "UPHENO:0004459",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0011355",
- "UPHENO:0003514",
- "UPHENO:0088186",
- "UPHENO:0052694",
+ "HP:0001627",
+ "UPHENO:0002655",
+ "UPHENO:0002634",
+ "UPHENO:0002442",
"HP:0003220",
- "HP:0002817",
- "UBERON:0010230",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0004909",
- "UPHENO:0012274",
- "BFO:0000004",
- "UBERON:0000075",
+ "UBERON:0007100",
+ "UBERON:0004535",
+ "UBERON:0001009",
+ "UBERON:0000948",
+ "UPHENO:9002003",
+ "UBERON:0000915",
+ "UPHENO:0003086",
+ "HP:0009380",
+ "UPHENO:0011825",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0026640",
+ "UPHENO:0009209",
+ "UPHENO:0026010",
+ "UPHENO:0011498",
+ "UPHENO:0009382",
+ "UPHENO:0026181",
+ "UPHENO:0063596",
+ "UPHENO:0026183",
+ "UPHENO:0027017",
+ "UPHENO:0025507",
+ "UPHENO:0008523",
+ "HP:0009777",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UPHENO:0084829",
+ "UPHENO:0080351",
+ "UPHENO:0084841",
+ "HP:0009484",
+ "HP:0004097",
"UPHENO:0003069",
- "UPHENO:0003812",
- "UBERON:0006058",
- "UPHENO:0002635",
- "UPHENO:0069605",
- "UBERON:0010712",
- "UPHENO:0080126",
- "HP:0000118",
- "HP:0001167",
- "HP:0000951",
- "UBERON:0012475",
- "HP:0000957",
- "PATO:0000001",
- "UPHENO:0079876",
- "UPHENO:0076739",
- "UBERON:0011249",
- "HP:0005528",
- "UBERON:0011676",
- "UPHENO:0002733",
- "GO:0032501",
- "HP:0009815",
- "UBERON:0002428",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UBERON:0006717",
+ "UPHENO:0076776",
+ "HP:0009603",
+ "UPHENO:0063586",
+ "HP:0010946",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "GO:0010558",
+ "UBERON:0002100",
+ "UPHENO:0069605",
+ "UBERON:0019221",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "MPATH:62",
+ "UBERON:5001463",
+ "UPHENO:0004476",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0011143",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "MPATH:55",
+ "UPHENO:0080114",
+ "UPHENO:0046411",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0069236",
+ "UBERON:0002102",
+ "UBERON:0005451",
"UBERON:0004121",
- "UPHENO:0050106",
- "UPHENO:0002648",
- "UPHENO:0080099",
+ "UPHENO:0053580",
"UBERON:5006048",
- "HP:0001871",
+ "UBERON:0002544",
+ "CL:0000000",
+ "MPATH:1000",
+ "UPHENO:0069125",
"UBERON:0001442",
- "UPHENO:0001003",
- "UPHENO:0075997",
- "UPHENO:0068971",
- "UPHENO:0002870",
- "UBERON:0034925",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UBERON:0010538",
- "UPHENO:0087472",
- "UBERON:0010758",
- "HP:0000001",
- "UPHENO:0002433",
- "UPHENO:0046552",
- "UPHENO:0050034",
- "HP:0006265",
- "HP:0045060",
- "UBERON:0001440",
- "UPHENO:0002554",
- "GO:0009890",
- "UBERON:0000153",
- "UPHENO:0002536",
- "UPHENO:0069684",
- "UBERON:0002102",
- "UPHENO:0003095",
- "UPHENO:0002896",
- "HP:0040012",
- "UBERON:0004710",
- "UPHENO:0050068",
- "UBERON:0019231",
- "UPHENO:0002586",
- "UBERON:0010708",
- "UBERON:0000026",
- "HP:0011927",
- "HP:0011297",
- "UPHENO:0082875",
- "UPHENO:0005092",
- "UPHENO:0084763",
- "HP:0009381",
- "HP:0005927",
- "UBERON:5001463",
+ "UPHENO:0046528",
+ "UPHENO:0069674",
+ "UPHENO:0002733",
+ "UBERON:0014793",
"UPHENO:0003415",
- "UPHENO:0069161",
- "HP:0000924",
- "GO:0031323",
- "HP:0033127",
- "UPHENO:0053330",
- "GO:0050794",
- "UBERON:0000061",
- "UPHENO:0087907",
- "UPHENO:0003082",
- "UPHENO:0076703",
- "UPHENO:0002632",
- "UBERON:5002389",
- "GO:0010558",
+ "UBERON:0000990",
+ "UPHENO:0046624",
+ "HP:0001172",
+ "UPHENO:0002976",
+ "UPHENO:0046740",
+ "HP:0001446",
+ "UPHENO:0053563",
+ "UPHENO:0008548",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "UPHENO:0076754",
+ "UPHENO:0053632",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UPHENO:0084448",
+ "UBERON:0012475",
+ "UPHENO:0002682",
+ "HP:0034915",
+ "HP:0000078",
+ "UPHENO:0003799",
+ "UPHENO:0018390",
+ "UPHENO:0003055",
+ "UBERON:0004481",
+ "UBERON:0002204",
+ "UBERON:0004053",
+ "UPHENO:3000004",
+ "UBERON:0003133",
+ "UPHENO:0053561",
+ "HP:0002250",
+ "UPHENO:0053572",
+ "UPHENO:0005016",
+ "UBERON:0001015",
+ "UPHENO:0053559",
+ "UBERON:0000991",
+ "UBERON:0005156",
+ "UPHENO:0079872",
+ "UBERON:0000473",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0000059",
+ "UPHENO:0049743",
"UPHENO:0076723",
- "UPHENO:0002949",
- "UBERON:0004288",
+ "HP:0000035",
+ "MPATH:56",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0000075",
+ "UPHENO:0068932",
+ "GO:0031323",
+ "UPHENO:0046594",
+ "HP:0002817",
+ "UBERON:0011582",
+ "UPHENO:0046472",
+ "UPHENO:0004518",
+ "UPHENO:0075944",
+ "UPHENO:0069163",
+ "UPHENO:0069684",
+ "HP:0011844",
+ "UPHENO:0046483",
+ "UPHENO:0001147",
+ "UPHENO:0003056",
+ "UBERON:0012141",
+ "HP:0000001",
+ "UPHENO:0002861",
+ "HP:0009815",
+ "UPHENO:0002595",
+ "MPATH:0",
+ "UPHENO:0069328",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
"UPHENO:0076740",
- "UPHENO:0002526",
- "GO:0048519",
- "UPHENO:0087006",
- "UPHENO:0076724",
- "UBERON:0001460",
- "GO:0050789",
- "UPHENO:0080393",
- "HP:0000152",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0069047",
"UPHENO:0046505",
- "UPHENO:0086633",
+ "UBERON:0003606",
+ "UBERON:0015001",
+ "UPHENO:0002637",
+ "UBERON:0015061",
+ "HP:0001421",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0003022",
+ "UPHENO:0069292",
"UPHENO:0086635",
- "UPHENO:0053456",
- "UPHENO:0046411",
- "GO:0032502",
- "UBERON:0000479",
- "UBERON:0004765",
- "UBERON:0004120",
- "UBERON:0002091",
- "UBERON:0002544",
- "UPHENO:0005597",
- "UPHENO:0004476",
+ "HP:0001167",
+ "UBERON:0005173",
+ "UPHENO:0046552",
+ "UPHENO:0002597",
+ "UPHENO:0046531",
+ "UPHENO:0063562",
+ "UPHENO:0001360",
+ "UPHENO:0087349",
+ "UPHENO:0068921",
+ "UBERON:0000062",
+ "UPHENO:0002945",
"HP:0002813",
- "UPHENO:0080377",
- "HP:0025461",
- "UPHENO:0002600",
+ "UBERON:0004288",
+ "UPHENO:0069194",
+ "UPHENO:0075902",
+ "UPHENO:0011536",
+ "UPHENO:0046479",
+ "UPHENO:0009146",
+ "UBERON:5002389",
+ "UPHENO:0086633",
+ "UPHENO:0075195",
+ "HP:0000118",
+ "UBERON:0002529",
+ "HP:0006265",
+ "HP:0009821",
+ "UBERON:0001460",
+ "UBERON:0002113",
+ "BFO:0000040",
+ "UBERON:0002101",
+ "UBERON:0002389",
+ "HP:0006501",
+ "UPHENO:0002751",
+ "UBERON:0012354",
+ "UPHENO:0046465",
+ "UPHENO:0004909",
+ "UPHENO:0081466",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "UPHENO:0080126",
+ "UPHENO:0002944",
+ "UBERON:0034929",
+ "UPHENO:0081204",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0008785",
+ "UPHENO:0005025",
+ "UPHENO:0087006",
+ "UBERON:0010712",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "UBERON:0010363",
+ "UBERON:0003101",
+ "UBERON:0000026",
+ "UPHENO:0080187",
+ "HP:0009824",
+ "HP:0000924",
+ "HP:0011297",
+ "UPHENO:0087501",
+ "HP:0009623",
+ "UPHENO:0002708",
+ "UPHENO:0003095",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "UPHENO:0068838",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UBERON:0002417",
+ "UPHENO:0002896",
+ "UPHENO:0002870",
+ "UBERON:0006866",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0011024",
"UBERON:0011216",
- "UBERON:0006048",
+ "UBERON:0001434",
+ "UPHENO:0002600",
+ "UBERON:0010912",
+ "UPHENO:0074330",
+ "UPHENO:0002964",
+ "UPHENO:0002427",
+ "HP:0000107",
+ "UPHENO:0001134",
+ "UPHENO:0086956",
+ "HP:0000811",
+ "UPHENO:0063563",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "UBERON:0002513",
+ "GO:0009890",
+ "UPHENO:0046741",
"RO:0002577",
- "UPHENO:0086700",
- "UBERON:0002416",
- "HP:0001172",
- "CL:0000000",
- "UPHENO:0002905",
- "UPHENO:0076692",
- "UPHENO:0046624",
- "UPHENO:0052778",
- "HP:0001155",
- "UBERON:0015061",
- "GO:0009892",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0004375",
+ "UPHENO:0084124",
+ "UBERON:0010740",
+ "UPHENO:0002994",
+ "UPHENO:0074227",
+ "UPHENO:0080325",
+ "UBERON:0000064",
+ "UPHENO:0002554",
+ "UPHENO:0002651",
+ "UBERON:0000477",
+ "UPHENO:0046392",
+ "HP:0012732",
+ "UPHENO:0003049",
+ "UPHENO:0002530",
+ "UPHENO:0002969",
+ "UPHENO:0081091",
+ "HP:0006503",
+ "UPHENO:0003005",
+ "UPHENO:0046403",
+ "UPHENO:0026108",
+ "UPHENO:0050063",
+ "HP:0040070",
+ "UBERON:0000153",
+ "HP:0012243",
+ "UPHENO:0046484",
+ "UPHENO:0074311",
+ "UPHENO:0080099",
+ "UPHENO:0026506",
+ "HP:0000119",
+ "HP:0002984",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0081423",
+ "UBERON:0010538",
"UPHENO:0080079",
- "UBERON:0001463",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0002910",
- "UPHENO:0002944",
- "UBERON:0007272",
- "HP:0009778",
- "UBERON:0004381",
- "UBERON:0015212",
- "UPHENO:0049775",
- "UBERON:5002544",
- "UBERON:0011582",
- "UPHENO:0002650",
- "UBERON:0006717",
- "UPHENO:0076727",
- "UBERON:0005881",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0004708",
+ "UBERON:0004907",
+ "UBERON:0006058",
+ "NCBITaxon:33208",
+ "UBERON:0002428",
+ "UPHENO:0002525",
+ "UBERON:0015021",
+ "HP:0040012",
+ "UPHENO:0046397",
"UPHENO:0001001",
- "UBERON:0002204",
- "HP:0009115",
- "UBERON:0000465",
- "HP:0040068",
- "UPHENO:0046740",
- "UPHENO:0002782",
- "UPHENO:0050126",
+ "UBERON:0010708",
+ "UPHENO:0026643",
+ "UPHENO:0003227",
+ "UPHENO:0011531",
+ "UPHENO:0004507",
+ "UBERON:0009569",
+ "UPHENO:0002650",
+ "UPHENO:0012274",
+ "UBERON:0002075",
+ "UPHENO:0079876",
+ "HP:0010935",
+ "UBERON:0004111",
+ "UPHENO:0003050",
+ "UPHENO:0002738",
+ "UBERON:0001555",
+ "UPHENO:0074228",
+ "UBERON:0002495",
"UPHENO:0046445",
- "UPHENO:0046741",
- "UPHENO:0002746",
- "UPHENO:0002948",
- "UPHENO:0052178",
- "UPHENO:0000543",
- "UPHENO:0003799",
- "UPHENO:0002593",
- "GO:0065007",
- "UPHENO:0086172",
- "HP:0000271",
- "UPHENO:0046750",
+ "UBERON:0004489",
+ "UPHENO:0004469",
+ "UPHENO:0075893",
+ "UPHENO:0046396",
+ "UPHENO:0000541",
+ "UPHENO:0084834",
"UPHENO:0046426",
- "GO:0010468",
- "UBERON:0019221",
- "UPHENO:0003005",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UPHENO:0012308",
- "UBERON:0000383",
- "UPHENO:0080114",
- "UPHENO:0002530",
- "GO:0010629",
- "UPHENO:0005596",
- "UPHENO:0002880",
- "UPHENO:0002830",
- "UBERON:0004456",
- "UPHENO:0001002",
- "UBERON:0012141",
+ "HP:0011314",
+ "NCBITaxon:1",
"UPHENO:0069327",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UPHENO:0003410",
- "UPHENO:0005214",
+ "UBERON:0003103",
+ "UPHENO:0069030",
"HP:0011017",
- "BFO:0000015",
+ "HP:0000028",
+ "UBERON:0004710",
+ "UPHENO:0081451",
+ "UPHENO:0046554",
+ "HP:0040072",
+ "UPHENO:0002750",
+ "UBERON:0003460",
+ "UPHENO:0001044",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0010758",
+ "HP:0010944",
+ "UPHENO:0003432",
+ "UPHENO:0002832",
+ "UPHENO:0005092",
+ "UPHENO:0087510",
+ "UBERON:0015212",
+ "HP:0006496",
+ "UPHENO:0002967",
+ "UPHENO:0086700",
+ "UPHENO:0049620",
+ "HP:0003026",
+ "UBERON:0005177",
+ "UBERON:0002471",
+ "UBERON:0001474",
+ "UPHENO:0076779",
+ "UBERON:0010707",
+ "UPHENO:0050784",
+ "UPHENO:0003084",
+ "UPHENO:0003514",
+ "UPHENO:0081581",
+ "UBERON:0001008",
+ "UPHENO:0008668",
+ "BFO:0000001",
+ "GO:0009987",
+ "UPHENO:0009020",
+ "UPHENO:0063632",
+ "UPHENO:0046460",
+ "UBERON:0004375",
+ "HP:0001939",
+ "UPHENO:0068848",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0012140",
+ "UPHENO:0002785",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:0004176",
+ "UPHENO:0012440",
+ "UPHENO:0069064",
+ "UPHENO:0002386",
+ "HP:0000077",
+ "UPHENO:0002642",
+ "UPHENO:0002803",
+ "UPHENO:0002940",
+ "HP:0002973",
+ "UPHENO:0074245",
+ "UBERON:0001224",
+ "UPHENO:0050435",
+ "UPHENO:0081313",
+ "UPHENO:0076783",
+ "UBERON:0002398",
+ "UBERON:0005090",
+ "UPHENO:0068898",
+ "HP:0033127",
+ "HP:0002818",
+ "UPHENO:0074335",
+ "BFO:0000004",
+ "UPHENO:0002659",
+ "UBERON:0005178",
+ "UPHENO:0086682",
+ "UPHENO:0081341",
+ "HP:0005922",
+ "UBERON:0000383",
+ "HP:0000079",
+ "UPHENO:0003025",
+ "UPHENO:0002786",
+ "UBERON:0000465",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002576",
+ "UPHENO:0074229",
+ "UPHENO:0004595",
+ "HP:0000032",
+ "UPHENO:0002812",
+ "UPHENO:0076703",
+ "UPHENO:0003088",
+ "UPHENO:0046405",
+ "UPHENO:0002719",
+ "UPHENO:0069062",
+ "UPHENO:0068839",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0082875",
+ "UBERON:0003135",
+ "UBERON:0013701",
+ "UBERON:0002091",
+ "UBERON:0011676",
+ "BFO:0000002",
+ "UPHENO:0002648",
+ "UPHENO:0001478",
+ "UPHENO:0001072",
+ "UPHENO:0002559",
+ "UBERON:0036295",
+ "UBERON:0001423",
+ "NCBITaxon:6072",
+ "UBERON:0001463",
+ "UPHENO:0049868",
"UPHENO:0012312",
- "UBERON:0012140",
- "UPHENO:0002708",
- "UPHENO:0002866",
- "BFO:0000020",
- "UPHENO:0005642",
- "GO:0060255",
- "HP:0006496",
- "HP:0005561",
- "UBERON:0002389",
+ "UBERON:0013702",
+ "UPHENO:0005214",
+ "UBERON:0034923",
+ "UPHENO:0076692",
+ "UPHENO:0003093",
+ "UBERON:0003466",
+ "UPHENO:0002586",
+ "UBERON:0004122",
+ "UBERON:0000916",
+ "UPHENO:0075763",
+ "UPHENO:0002531",
+ "HP:0003774",
+ "UPHENO:0046455",
+ "HP:0000126",
+ "UBERON:0004480",
+ "UPHENO:0002949",
+ "UPHENO:0002909",
+ "UPHENO:0046538",
+ "UPHENO:0002754",
+ "HP:0011927",
+ "UPHENO:0001003",
+ "UBERON:0001630",
+ "UBERON:0005881",
+ "UPHENO:0084132",
"UPHENO:0002926",
- "HP:0009601",
- "UPHENO:0002976",
- "GO:0008150",
- "UBERON:0001015",
- "UPHENO:0003227",
- "UPHENO:0075195",
- "UPHENO:0069674",
- "UPHENO:0002559",
- "UPHENO:0003065",
- "BFO:0000040",
- "HP:0001510",
- "UBERON:0002390",
+ "UPHENO:0063575",
+ "UPHENO:0002782",
+ "UPHENO:0076773",
+ "UPHENO:0002385",
+ "UPHENO:0001303",
+ "UBERON:8450002",
+ "UPHENO:0025585",
+ "UBERON:0000061",
+ "UPHENO:0002649",
+ "UBERON:0000489",
+ "HP:0010461",
+ "UPHENO:0087427",
+ "UPHENO:0002880",
+ "UPHENO:0084763",
+ "UPHENO:0088186",
+ "UBERON:0010703",
"UBERON:0001062",
- "UBERON:0001474",
- "UBERON:0010000",
- "UBERON:0000467",
- "UBERON:0000062",
- "UBERON:0010740",
- "GO:0031049",
- "UPHENO:0000541",
- "UBERON:0002529",
- "UBERON:0034923",
- "UPHENO:0046707",
- "UPHENO:0002983",
- "GO:0031324",
- "UBERON:0002101",
- "UPHENO:0046483",
- "UBERON:0005451",
- "UPHENO:0002964",
- "UPHENO:0069062",
- "UPHENO:0012440",
- "HP:0011842",
- "UPHENO:0069266",
- "HP:0001511",
+ "HP:0012622",
+ "UPHENO:0004173",
+ "UPHENO:0012308",
+ "UPHENO:0002526",
"UPHENO:0002731",
- "UBERON:0010707",
- "UBERON:0001032",
- "HP:0011844",
- "HP:0025354",
- "UPHENO:0050007",
+ "UBERON:0000079",
+ "UPHENO:0026146",
+ "UPHENO:0069046",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "UPHENO:0003094",
+ "UPHENO:0046540",
+ "UBERON:0019231",
+ "UBERON:0011584",
+ "UPHENO:0002668",
+ "GO:0031052",
+ "UBERON:0003607",
+ "HP:0040068",
"HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "CL:0001035",
- "HP:0001574",
- "UBERON:0002193",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "HP:0012145",
- "UBERON:0002405",
- "HP:0002715",
- "UPHENO:0005647",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "UBERON:0012139",
- "GO:0007275",
- "UPHENO:0046528",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UPHENO:0005573",
- "HP:0008056",
- "UBERON:0000970",
- "UBERON:0001444",
- "UPHENO:0080382",
- "HP:0012759",
- "GO:0048856",
- "UPHENO:0002963",
- "UPHENO:0069236",
- "UPHENO:0049966",
- "UPHENO:0005433",
- "UPHENO:0002267",
- "UPHENO:0049587",
- "UBERON:0001434",
- "UPHENO:0052160",
- "BFO:0000003",
- "GO:0009790",
- "HP:0000234",
- "UPHENO:0005097",
- "UPHENO:0054970"
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "HP:0012210",
+ "UPHENO:0002568",
+ "UPHENO:0068912",
+ "HP:0009826",
+ "HP:0004322",
+ "UBERON:0004708",
+ "UPHENO:0063599",
+ "UBERON:0000468",
+ "UBERON:0000467",
+ "UBERON:0005409",
+ "UPHENO:0080369",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0009163",
+ "UBERON:0001440",
+ "UPHENO:0002963"
],
"has_phenotype_closure_label": [
- "Chromosome breakage",
+ "intestine",
+ "terminal part of digestive tract",
+ "rectum",
+ "internal anal region",
+ "Abnormal intestine morphology",
+ "closing of the subdivision of digestive tract",
+ "large intestine morphology phenotype",
+ "digestive system element phenotype",
+ "Abnormal large intestine morphology",
+ "subdivision of digestive tract phenotype",
+ "intestine morphology phenotype",
+ "Metazoa",
+ "closing of the organ part",
+ "rectum phenotype",
+ "Anorectal anomaly",
+ "Eumetazoa",
+ "alimentary part of gastrointestinal system",
+ "Rectal atresia",
+ "rectum morphology phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "subdivision of digestive tract atresia",
+ "Intestinal atresia",
+ "abdomen element physiology phenotype",
+ "cavitated compound organ physiology phenotype",
+ "Abnormality of the urinary system physiology",
+ "compound organ physiology phenotype",
+ "trunk region element physiology phenotype",
+ "lateral structure physiology phenotype",
+ "closing of the anatomical conduit",
+ "anus",
+ "digestive system phenotype",
+ "Abnormal digestive system morphology",
+ "anatomical structure atresia",
+ "closing of the ectoderm-derived structure",
+ "digestive system",
+ "digestive system element",
+ "digestive system morphology phenotype",
+ "anus phenotype",
+ "anatomical conduit atresia",
+ "material anatomical entity atresia",
+ "multicellular anatomical structure atresia",
+ "anus morphology phenotype",
+ "tube",
+ "closing of the material anatomical entity",
+ "thenar eminence",
+ "Stage 5 chronic kidney disease",
+ "palmar/plantar part of autopod",
+ "Abnormality of the musculature of the hand",
+ "Abnormality of the thenar eminence",
+ "external soft tissue zone phenotype",
+ "palmar part of manus phenotype",
+ "Small thenar eminence",
+ "musculature of manus",
+ "muscle structure",
+ "thenar eminence hypoplasia",
+ "pectoral appendage musculature",
+ "appendage musculature",
+ "external soft tissue zone",
+ "rectum atresia",
+ "pectoral appendage musculature phenotype",
+ "Abnormality of the gastrointestinal tract",
+ "musculature of manus phenotype",
+ "delayed growth",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "Abnormality of body height",
+ "size of multicellular organism phenotype",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "growth phenotype",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "External genital hypoplasia",
+ "biological_process phenotype",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
"negative regulation of biological process phenotype",
- "regulation of biological process",
- "regulation of macromolecule metabolic process",
- "regulation of cellular metabolic process",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process phenotype",
- "regulation of cellular process phenotype",
+ "thenar eminence phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "process",
+ "programmed DNA elimination",
"negative regulation of gene expression",
- "metabolic process",
"homeostatic process",
- "regulation of metabolic process",
- "negative regulation of biological process",
- "regulation of cellular biosynthetic process phenotype",
- "regulation of gene expression phenotype",
+ "appendage musculature phenotype",
+ "cellular process",
+ "Chromosome breakage",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "musculature of upper limb phenotype",
+ "metabolic process",
+ "regulation of metabolic process phenotype",
"regulation of macromolecule biosynthetic process",
"negative regulation of biosynthetic process",
- "biological regulation phenotype",
- "regulation of gene expression",
- "negative regulation of cellular biosynthetic process",
- "Global developmental delay",
- "Neurodevelopmental delay",
- "Abnormality of the nervous system",
- "Abnormal nervous system physiology",
- "anatomical system physiology phenotype",
- "anatomical entity physiology phenotype",
- "nervous system physiology phenotype",
- "nervous system phenotype",
- "Neurodevelopmental abnormality",
- "Abnormality of the head",
- "sense organ phenotype",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "negative regulation of macromolecule biosynthetic process",
+ "kidney physiology phenotype",
+ "obsolete regulation of cellular biosynthetic process",
+ "obsolete cell",
+ "regulation of cellular metabolic process phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "negative regulation of cellular process",
+ "biological regulation phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "Abnormal anus morphology",
"regulation of biosynthetic process",
- "sense organ",
- "entire sense organ system",
- "decreased size of the eyeball of camera-type eye",
- "Abnormality of the face",
- "subdivision of organism along main body axis phenotype",
- "decreased size of the sense organ",
- "visual system",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "decreased size of the organ",
- "main body axis",
"negative regulation of metabolic process",
- "subdivision of organism along main body axis",
- "structure with developmental contribution from neural crest",
- "orbital region phenotype",
- "simple eye phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "camera-type eye morphology phenotype",
- "Abnormality of globe size",
- "orbital region",
- "sensory system",
- "eye phenotype",
- "craniocervical region phenotype",
- "face morphology phenotype",
- "Abnormal eye morphology",
- "Microphthalmia",
- "craniofacial/craniocervical phenotype",
- "simple eye",
- "eyeball of camera-type eye",
- "face phenotype",
- "eye",
- "head morphology phenotype",
- "visual system phenotype",
- "head",
- "Abnormality of the orbital region",
- "Postnatal growth retardation",
- "Irregular hyperpigmentation",
- "increased biological_process in skin of body",
- "Localized skin lesion",
+ "pathological phenotype observation",
+ "Renal cyst",
+ "developmental and structural abnormality",
+ "pathological entity",
+ "cyst",
+ "primary circulatory organ phenotype",
+ "thoracic segment of trunk",
+ "circulatory system",
+ "circulatory organ phenotype",
+ "heart",
+ "primary circulatory organ",
+ "circulatory organ",
+ "thoracic segment organ",
+ "cardiovascular system phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "absent material anatomical entity in the multicellular organism",
+ "absent anatomical entity in the forelimb",
+ "absent anatomical entity in the limb",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "Finger aplasia",
+ "agenesis of anatomical entity",
+ "Abnormality of the digestive system",
+ "absent anatomical structure in the forelimb",
+ "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "anatomical system atresia",
+ "musculature of upper limb",
+ "absent multicellular anatomical structure",
+ "Absent thumb",
"ectoderm-derived structure",
- "Cafe-au-lait spot",
- "ectoderm-derived structure phenotype",
- "increased biological_process",
- "integument",
- "pigmentation",
- "Hypermelanotic macule",
- "Multiple cafe-au-lait spots",
- "Abnormality of the skin",
- "integument phenotype",
- "increased pigmentation in skin of body",
- "Hyperpigmentation of the skin",
- "pigmentation phenotype",
- "skin of body",
- "negative regulation of gene expression phenotype",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "organism subdivision phenotype",
- "paired limb/fin segment",
- "Bone marrow hypocellularity",
- "cell phenotype",
- "negative regulation of macromolecule metabolic process",
- "size of eyeball of camera-type eye phenotype",
- "aplasia or hypoplasia of manual digit 1",
- "autopod region morphology phenotype",
- "aplasia or hypoplasia of anatomical entity",
- "paired limb/fin phenotype",
- "skeletal system phenotype",
- "bone element",
- "musculature of body",
- "multi-limb segment region",
- "integumental system",
- "aplasia or hypoplasia of skeleton",
- "autopodial extension",
+ "absent material anatomical entity",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "decreased length of mesoderm-derived structure",
+ "Proximal placement of thumb",
+ "organ part",
+ "deviation of manual digit",
+ "absent anatomical structure",
+ "Deviation of the hand or of fingers of the hand",
+ "digit 1 or 5",
+ "biological regulation",
+ "thoracic segment organ phenotype",
+ "organism subdivision",
+ "decreased size of the forelimb bone",
+ "manual digit 1 plus metapodial segment",
+ "multi-tissue structure",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "digit 1",
+ "manual digit plus metapodial segment",
+ "manual digit morphology in the manus phenotype",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased size of the bone of pectoral complex",
"decreased length of digit",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "subdivision of head phenotype",
- "skeletal system morphology phenotype",
- "paired limb/fin segment phenotype",
+ "anatomical entity morphology in the manus phenotype",
+ "absent organism subdivision",
+ "decreased length of organism subdivision",
+ "digitopodium region",
+ "manus",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "manual digit 1 or 5",
+ "subdivision of tube",
+ "occurrent",
+ "digit 1 phenotype",
"manus phenotype",
- "non-connected functional system",
- "skeleton of manus",
- "Abnormal hand morphology",
- "negative regulation of cellular metabolic process",
- "delayed growth",
- "skeleton of limb",
- "Abnormality of the musculoskeletal system",
- "anatomical system phenotype",
- "regulation of biological process phenotype",
- "tissue",
- "limb bone",
- "multicellular anatomical structure",
- "subdivision of skeleton",
+ "digit 1 or 5 phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "Short thumb",
+ "decreased size of the manual digit",
+ "autopod region phenotype",
+ "Short finger",
+ "digit phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "manus morphology phenotype",
+ "decreased length of autopodial extension",
+ "heart plus pericardium",
+ "limb endochondral element phenotype",
+ "absent anatomical entity",
+ "closing of the anatomical entity",
+ "musculature of pectoral complex phenotype",
+ "regulation of gene expression phenotype",
+ "decreased length of manual digit 1 or 5",
+ "alimentary part of gastrointestinal system phenotype",
+ "spatial pattern of anatomical entity phenotype",
+ "decreased length of manual digit",
+ "Gastrointestinal atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased size of the long bone",
+ "decreased length of digit 1",
+ "musculature of limb phenotype",
+ "absent autopodial extension",
+ "location of anatomical entity phenotype",
+ "Phenotypic abnormality",
+ "external genitalia",
"Abnormality of the hand",
- "phenotypic effect",
- "Abnormal skin morphology",
- "acropodium region",
- "anatomical entity phenotype",
- "head phenotype",
- "forelimb morphology phenotype",
+ "male reproductive organ phenotype",
"anatomical structure physiology phenotype",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "segment of manus",
- "decreased length of material anatomical entity",
- "anatomical collection",
- "Aplasia/hypoplasia of the extremities",
- "anatomical structure",
- "manual digit morphology in the manus phenotype",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
+ "male reproductive organ",
+ "subdivision of organism along main body axis phenotype",
+ "male reproductive system phenotype",
+ "localised testis",
+ "paired limb/fin phenotype",
+ "Abnormal thumb morphology",
+ "digit plus metapodial segment",
"anatomical entity morphology phenotype",
+ "Cryptorchidism",
+ "Abnormal renal physiology",
+ "reproductive structure phenotype",
+ "manual digitopodium region",
+ "Renal insufficiency",
+ "Abnormality of the anus",
+ "localised anatomical structure",
+ "paired limb/fin segment",
+ "external male genitalia",
+ "decreased size of the arm bone",
+ "male reproductive system",
+ "intestine phenotype",
+ "localised material anatomical entity",
+ "Abnormal external genitalia",
+ "Growth delay",
+ "segment of manus",
+ "regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "Short digit",
+ "pectoral appendage",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
"decreased size of the multicellular anatomical structure",
- "digit morphology phenotype",
- "eyeball of camera-type eye phenotype",
- "manual digit 1",
- "All",
- "organ system subdivision phenotype",
- "endochondral bone phenotype",
- "forelimb phenotype",
- "taxon specific phenotype",
- "regulation of cellular biosynthetic process",
- "decreased length of digit 1",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "Growth abnormality",
+ "renal pelvis morphology phenotype",
+ "limb skeleton subdivision",
+ "decreased size of the limb endochondral element",
+ "autopodial skeleton",
+ "renal system physiology phenotype",
+ "appendicular skeleton phenotype",
+ "limb endochondral element",
+ "decreased size of the limb bone",
+ "forelimb bone phenotype",
+ "zeugopod phenotype",
+ "gonad",
+ "bone of appendage girdle complex phenotype",
+ "bone element",
+ "skeletal system",
+ "musculature of body phenotype",
+ "decreased size of the endochondral bone",
+ "localised male reproductive organ",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "ectoderm-derived structure phenotype",
+ "absent manual digit",
+ "limb morphology phenotype",
+ "decreased size of the mesoderm-derived structure",
+ "arm phenotype",
+ "decreased size of the bone of appendage girdle complex",
+ "anterior region of body",
+ "musculature",
+ "autopod region",
+ "aplastic manual digit 1",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "decreased length of anatomical structure",
+ "abdominal segment element physiology phenotype",
+ "decreased size of the bone of free limb or fin",
+ "decreased length of manual digit 1",
+ "forelimb zeugopod bone morphology phenotype",
+ "Abnormal morphology of the radius",
+ "multicellular anatomical structure physiology phenotype",
+ "radius endochondral element",
+ "musculature of pectoral complex",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "reproductive system",
+ "negative regulation of gene expression phenotype",
+ "circulatory system phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "viscus",
+ "paired limb/fin skeleton",
"limb phenotype",
- "Abnormal appendicular skeleton morphology",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "segment of autopod",
- "manus",
+ "long bone phenotype",
+ "appendage girdle complex",
+ "closing of the multicellular anatomical structure",
"phenotype",
- "skeletal element phenotype",
- "pectoral complex",
- "nervous system",
- "decreased size of the autopodial extension",
- "subdivision of organism along appendicular axis phenotype",
- "Abnormality of the upper limb",
- "limb morphology phenotype",
- "negative regulation of metabolic process phenotype",
+ "Abnormal upper limb bone morphology",
+ "upper urinary tract phenotype",
+ "limb long bone",
+ "zeugopodial skeleton",
+ "decreased size of the anatomical structure",
+ "abdomen",
+ "decreased length of endochondral bone",
+ "appendage phenotype",
+ "radius bone hypoplasia",
+ "decreased length of bone of free limb or fin",
+ "endochondral element phenotype",
+ "decreased length of long bone",
+ "Abnormal appendicular skeleton morphology",
+ "decreased size of the forelimb endochondral element",
+ "Eukaryota",
+ "decreased length of bone of appendage girdle complex",
+ "radius bone phenotype",
+ "gonad phenotype",
+ "anal region",
+ "regulation of cellular biosynthetic process phenotype",
+ "genitourinary system phenotype",
+ "ectoderm-derived structure atresia",
+ "Limb undergrowth",
+ "external genitalia phenotype",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "palmar part of manus",
+ "forelimb",
+ "obsolete regulation of cellular metabolic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "forelimb zeugopod skeleton",
+ "paired limb/fin",
+ "decreased length of skeletal element",
+ "musculature of body",
+ "renal system phenotype",
+ "lateral structure",
+ "decreased size of the anatomical entity",
+ "mesoderm-derived structure",
+ "thoracic cavity element phenotype",
+ "anatomical entity length phenotype",
+ "bone of pectoral complex phenotype",
+ "kidney",
+ "forelimb zeugopod bone phenotype",
+ "Forearm undergrowth",
+ "cardiovascular system",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "limb bone phenotype",
+ "decreased size of the forelimb zeugopod bone",
+ "localised gonad",
+ "localised reproductive organ",
+ "forelimb zeugopod phenotype",
+ "Abnormal long bone morphology",
+ "Abnormal limb bone morphology",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased length of forelimb zeugopod bone",
+ "manual digit phenotype",
+ "pectoral appendage skeleton phenotype",
+ "Abnormal skeletal muscle morphology",
"pectoral appendage skeleton",
- "appendicular skeleton",
- "hematopoietic system phenotype",
- "continuant",
- "body proper",
- "entity",
- "decreased size of the anatomical entity in the pectoral complex",
- "bone element phenotype",
- "Abnormality of skin pigmentation",
- "Abnormality of the skeletal system",
- "anatomical entity",
- "autopod region phenotype",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "lower digestive tract",
+ "paired limb/fin skeleton phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "upper urinary tract",
+ "forelimb zeugopod",
+ "Abnormal cellular physiology",
+ "deviation of manual digit 1",
"skeleton of pectoral complex",
- "manual digit plus metapodial segment",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "limb segment",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "trunk region element",
+ "autopod region morphology phenotype",
+ "decreased length of bone of pectoral complex",
+ "anatomical entity atresia",
+ "decreased length of organ",
+ "subdivision of skeleton phenotype",
+ "Anal atresia",
+ "digit morphology phenotype",
+ "appendicular skeleton morphology phenotype",
+ "renal/urinary system phenotype",
+ "appendicular skeleton",
+ "Aplasia/Hypoplasia of fingers",
+ "bone of appendage girdle complex",
"musculoskeletal system",
- "immune system",
- "decreased embryo development",
- "manus morphology phenotype",
- "regulation of biosynthetic process phenotype",
- "growth phenotype",
- "embryo development rate phenotype",
- "organ system subdivision",
- "forelimb skeleton",
+ "long bone",
+ "skeleton",
+ "Deviation of the thumb",
+ "autopodial extension",
+ "dilated renal pelvis",
+ "Abnormality of the musculoskeletal system",
+ "organism subdivision phenotype",
+ "appendage",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "decreased length of limb endochondral element",
+ "Abnormal hand morphology",
+ "main body axis",
"negative regulation of macromolecule metabolic process phenotype",
- "decreased size of the organism subdivision",
- "endochondral bone",
- "Abnormality of chromosome stability",
- "upper limb segment phenotype",
- "biological_process phenotype",
- "negative regulation of cellular process phenotype",
- "autopodial extension phenotype",
- "increased pigmentation",
- "Short thumb",
- "musculature of body phenotype",
- "upper limb segment",
- "Aplasia/hypoplasia involving the skeleton",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "limb bone phenotype",
- "Aplasia/Hypoplasia of fingers",
- "Abnormal thumb morphology",
- "limb endochondral element phenotype",
- "aplasia or hypoplasia of manual digit",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "regulation of cellular metabolic process phenotype",
- "negative regulation of macromolecule biosynthetic process",
- "skeleton of limb phenotype",
- "arm",
- "Abnormal cell morphology",
- "decreased length of manual digit 1 or 5",
- "skin of body phenotype",
+ "decreased length of digit 1 or 5",
"appendicular skeletal system",
- "material anatomical entity",
- "limb segment phenotype",
- "Macule",
- "biological_process rate phenotype",
- "pectoral appendage phenotype",
- "bone marrow cell",
- "manual digit",
- "Abnormality of limbs",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "decreased size of the manual digit",
- "subdivision of organism along appendicular axis",
- "appendage girdle complex",
- "multicellular organism",
- "embryo development",
+ "Abnormality of the musculature of the upper limbs",
"endochondral element",
- "digitopodium region",
- "anatomical system",
- "decreased qualitatively multicellular organismal process",
- "skeletal element",
- "subdivision of skeletal system phenotype",
- "decreased size of the ectoderm-derived structure",
- "digit",
- "regulation of cellular process",
- "decreased length of manual digit 1",
- "manual digit 1 plus metapodial segment",
- "material entity",
- "camera-type eye",
- "pectoral appendage",
- "manual digitopodium region",
- "vision/eye phenotype",
- "digit 1 or 5",
- "bone of appendage girdle complex",
- "paired limb/fin",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "camera-type eye phenotype",
- "digit 1 phenotype",
- "multicellular anatomical structure phenotype",
+ "forelimb zeugopod bone hypoplasia",
+ "bone element phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "anatomical structure phenotype",
+ "subdivision of skeleton",
+ "Abnormality of the skeletal system",
+ "anatomical entity phenotype",
+ "digestive tract",
+ "arm bone",
+ "radius bone",
+ "bone of pectoral complex",
+ "cardiovascular system morphology phenotype",
+ "arm bone phenotype",
+ "localised multicellular anatomical structure",
+ "regulation of gene expression",
+ "limb bone morphology phenotype",
+ "pectoral appendage phenotype",
+ "decreased size of the skeletal element",
+ "forelimb morphology phenotype",
+ "decreased size of the organism subdivision",
+ "aplasia or hypoplasia of radius bone",
+ "radius bone morphology phenotype",
+ "Hypoplasia of the radius",
+ "aplasia or hypoplasia of anatomical entity",
+ "forelimb skeleton phenotype",
+ "long bone morphology phenotype",
+ "large intestine",
+ "orifice atresia",
+ "skeleton of limb phenotype",
+ "decreased size of the digit",
+ "manual digit 1",
+ "Abnormal gastrointestinal tract morphology",
+ "subdivision of tube phenotype",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "orifice phenotype",
+ "localised organ",
+ "skeletal element",
+ "closing of the anatomical structure",
+ "Aplasia/Hypoplasia of the radius",
+ "multi-limb segment region",
+ "decreased size of the bone element",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
+ "Abnormal reproductive system morphology",
+ "decreased size of the endochondral element",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "anatomical entity hypoplasia",
+ "Abnormal cellular phenotype",
+ "Abnormal testis morphology",
+ "forelimb endochondral element phenotype",
+ "Abnormality of the male genitalia",
+ "limb segment phenotype",
+ "dilated anatomical entity",
+ "intestine atresia",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
"bone of free limb or fin phenotype",
- "forelimb",
- "digit phenotype",
- "bone cell",
+ "Abnormality of the cardiovascular system",
+ "renal pelvis/ureter",
"decreased length of multicellular anatomical structure",
- "mesoderm-derived structure",
- "Abnormal digit morphology",
- "digit 1",
- "Growth delay",
- "autopod region",
- "Abnormal limb bone morphology",
- "subdivision of head",
- "endochondral element phenotype",
- "decreased size of the anatomical structure in the pectoral complex",
- "paired limb/fin skeleton",
- "Short finger",
- "system",
- "limb endochondral element",
- "programmed DNA elimination by chromosome breakage",
- "Aplasia/Hypoplasia of the thumb",
- "subdivision of skeletal system",
- "anatomical entity length phenotype",
- "sensory system phenotype",
- "face",
+ "trunk region element phenotype",
+ "kidney phenotype",
+ "skeletal element phenotype",
+ "All",
+ "Abnormality of the genital system",
+ "body proper",
+ "deviation of anatomical entity",
+ "growth",
+ "organ system subdivision phenotype",
+ "increased size of the renal pelvis",
+ "bone of pectoral complex morphology phenotype",
+ "lateral structure phenotype",
+ "Abnormality of metabolism/homeostasis",
+ "Abnormal renal morphology",
+ "increased size of the anatomical conduit",
+ "negative regulation of metabolic process phenotype",
+ "Abnormal cardiovascular system morphology",
+ "autopodial extension phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "abdominal segment of trunk",
"independent continuant",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of manual digit",
- "biological_process",
- "decreased length of autopodial extension",
- "decreased length of anatomical structure",
- "negative regulation of cellular process",
- "lateral structure",
- "obsolete cell",
- "autopodial skeleton",
- "bone of appendage girdle complex phenotype",
- "decreased length of digit 1 or 5",
- "developmental process rate phenotype",
- "decreased length of organism subdivision",
- "specifically dependent continuant",
- "multicellular organism phenotype",
- "skeleton phenotype",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "limb skeleton subdivision phenotype",
- "regulation of metabolic process phenotype",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "developmental process",
"multicellular organism morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "manual digit 1 or 5",
- "developmental process phenotype",
- "quality",
- "Abnormal cellular phenotype",
- "decreased multicellular organism development",
- "organ phenotype",
- "skeleton",
- "musculature",
- "skeletal system",
- "decreased size of the digit",
- "anatomical entity morphology in the manus phenotype",
- "decreased size of the anatomical entity",
- "musculoskeletal system phenotype",
- "anterior region of body",
- "mesoderm-derived structure phenotype",
- "manual digit 1 morphology phenotype",
- "Abnormality of the integument",
- "appendage",
- "decreased size of the material anatomical entity",
- "lateral structure phenotype",
- "biological regulation",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "bone of free limb or fin",
- "subdivision of skeleton phenotype",
- "Abnormality of head or neck",
- "decreased multicellular organismal process",
- "anatomical collection phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "material entity",
+ "Abnormal forearm morphology",
+ "aplasia or hypoplasia of skeleton",
+ "viscus phenotype",
+ "manual digit",
+ "system",
+ "anus atresia",
+ "limb bone",
+ "structure with developmental contribution from neural crest phenotype",
+ "testis phenotype",
+ "abdomen element phenotype",
+ "Abnormal forearm bone morphology",
+ "decreased length of forelimb bone",
+ "Abnormality of the upper urinary tract",
"homeostatic process phenotype",
- "organism subdivision",
- "Abnormality of limb bone",
- "arm phenotype",
- "Abnormal bone marrow cell morphology",
- "Abnormality of blood and blood-forming tissues",
+ "absent material anatomical entity in the limb",
+ "localised reproductive structure",
+ "Abnormality of the kidney",
+ "trunk",
+ "thoracic cavity element",
+ "genitourinary system",
+ "absent anatomical entity in the multicellular organism",
+ "Abnormal digit morphology",
+ "increased size of the anatomical entity",
+ "zeugopod",
+ "decreased length of arm bone",
+ "increased size of the multicellular anatomical structure",
+ "Abnormality of the urinary system",
+ "multicellular anatomical structure phenotype",
+ "alimentary part of gastrointestinal system atresia",
+ "anatomical entity height phenotype",
+ "Upper limb undergrowth",
+ "subdivision of trunk",
+ "increased size of the material anatomical entity",
+ "Abnormal rectum morphology",
+ "Aplasia/hypoplasia involving the skeleton",
+ "renal pelvis phenotype",
+ "organ part phenotype",
+ "decreased length of endochondral element",
+ "digit",
+ "root",
+ "closing of the subdivision of tube",
+ "limb",
+ "abdominal segment element",
+ "forelimb phenotype",
+ "anatomical cluster",
+ "organ phenotype",
+ "material anatomical entity phenotype",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "organ system subdivision",
+ "decreased size of the organ",
+ "absent anatomical structure in the limb",
+ "multicellular organism",
+ "anatomical conduit phenotype",
+ "Abnormality of the genitourinary system",
"disconnected anatomical group",
- "programmed DNA elimination by chromosome breakage phenotype",
- "hemolymphoid system",
- "material anatomical entity physiology phenotype",
- "hematopoietic system",
- "anatomical structure development",
- "Intrauterine growth retardation",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "process",
- "increased qualitatively biological_process",
- "Aplasia/Hypoplasia affecting the eye",
- "skin of body morphology phenotype",
- "decreased qualitatively biological_process",
- "programmed DNA elimination",
- "occurrent",
- "Chromosomal breakage induced by crosslinking agents",
- "decreased biological_process",
- "anatomical structure development phenotype",
- "decreased qualitatively anatomical structure development",
- "multicellular organismal process",
- "growth",
- "decreased anatomical structure development",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "Short digit",
- "embryo development phenotype",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organismal process phenotype",
- "decreased length of anatomical entity",
- "decreased developmental process",
- "Abnormality of the eye",
- "decreased qualitatively embryo development",
+ "pathological anatomical entity",
+ "heart phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "Abnormal renal pelvis morphology",
+ "Abnormality of the musculature of the limbs",
+ "subdivision of skeletal system phenotype",
+ "Hydronephrosis",
+ "localised anatomical entity",
+ "developmental or adult structural defect",
+ "skeleton phenotype",
+ "cavitated compound organ phenotype",
+ "subdivision of trunk phenotype",
+ "manual digit 1 morphology phenotype",
+ "negative regulation of biological process",
+ "decreased length of limb bone",
+ "upper limb segment phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "Abnormal male external genitalia morphology",
+ "phenotypic effect",
+ "abdomen element",
+ "Abnormal finger morphology",
+ "compound organ phenotype",
+ "anatomical entity",
+ "compound organ",
+ "Abnormal heart morphology",
+ "anatomical conduit",
+ "musculature of limb",
+ "taxon specific phenotype",
+ "organ",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "skeletal system phenotype",
+ "acropodium region",
+ "excretory system",
+ "muscle organ phenotype",
+ "cavitated compound organ",
+ "organ part atresia",
+ "limb long bone phenotype",
+ "multicellular anatomical structure",
+ "multi-tissue structure phenotype",
+ "male organism",
+ "abdominal segment element phenotype",
+ "forelimb zeugopod bone",
+ "anatomical cluster phenotype",
+ "skeleton of manus",
+ "male organism phenotype",
+ "decreased length of forelimb endochondral element",
+ "forelimb long bone phenotype",
+ "decreased length of bone element",
+ "Chronic kidney disease",
+ "entity",
+ "paired limb/fin segment phenotype",
+ "anatomical system",
+ "Abnormality of the upper limb",
+ "Deviation of finger",
+ "subdivision of digestive tract",
+ "Short long bone",
+ "reproductive system phenotype",
"size of anatomical entity phenotype",
- "multicellular organism development",
- "bone marrow",
- "multicellular organism development phenotype",
- "decreased qualitatively multicellular organism development",
- "decreased qualitatively developmental process",
+ "Dilatation of the renal pelvis",
+ "large intestine phenotype",
+ "limb long bone morphology phenotype",
+ "renal system morphology phenotype",
+ "tube phenotype",
+ "endochondral bone",
+ "material anatomical entity physiology phenotype",
"digit 1 plus metapodial segment",
- "limb bone morphology phenotype",
- "integumental system phenotype"
+ "renal system",
+ "Abnormal skeletal morphology",
+ "heart morphology phenotype",
+ "multi-limb segment region phenotype",
+ "continuant",
+ "decreased height of the multicellular organism",
+ "renal pelvis",
+ "organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "cellular organisms",
+ "absent material anatomical entity in the forelimb",
+ "orifice",
+ "musculature phenotype",
+ "anatomical structure",
+ "increased size of the organ part",
+ "increased size of the anatomical structure",
+ "reproductive organ",
+ "limb segment",
+ "regulation of biological process",
+ "decreased length of material anatomical entity"
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 15,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0014985",
+ "id": "MONDO:0014638",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group V",
+ "name": "Fanconi anemia complementation group T",
"full_name": null,
"deprecated": null,
- "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.",
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.",
"xref": [
- "DOID:0111080",
- "GARD:16213",
- "MEDGEN:934619",
- "OMIM:617243",
- "UMLS:C4310652"
+ "DOID:0111081",
+ "GARD:16111",
+ "MEDGEN:896157",
+ "OMIM:616435",
+ "UMLS:C4084840"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCV",
- "Fanconi Anemia, complementation Group 5",
- "Fanconi Anemia, complementation group V",
- "Fanconi Anemia, complementation group type V",
- "Fanconi anaemia caused by mutation in MAD2L2",
- "Fanconi anaemia complementation group type V",
- "Fanconi anemia caused by mutation in MAD2L2",
- "Fanconi anemia complementation group type V",
- "Fanconi anemia, complementation GROUP V",
- "MAD2L2 Fanconi anaemia",
- "MAD2L2 Fanconi anemia"
+ "FANCT",
+ "Fanconi Anemia, complementation group type T",
+ "Fanconi anaemia caused by mutation in UBE2T",
+ "Fanconi anaemia complementation group type T",
+ "Fanconi anemia caused by mutation in UBE2T",
+ "Fanconi anemia complementation group type T",
+ "Fanconi anemia, complementation group T",
+ "UBE2T Fanconi anaemia",
+ "UBE2T Fanconi anemia"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0001875",
+ "HP:0001876",
"HP:0001873",
+ "HP:0009778",
"HP:0005528",
- "HP:0006254",
- "HP:0003221",
+ "HP:0009942",
+ "HP:0004808",
"HP:0001903",
+ "HP:0003221",
"HP:0004322",
- "HP:0000252"
+ "HP:0000365",
+ "HP:0010628"
],
"has_phenotype_label": [
- "Neutropenia",
+ "Pancytopenia",
"Thrombocytopenia",
+ "Short thumb",
"Bone marrow hypocellularity",
- "Elevated circulating alpha-fetoprotein concentration",
- "Chromosomal breakage induced by crosslinking agents",
+ "Duplication of thumb phalanx",
+ "Acute myeloid leukemia",
"Anemia",
+ "Chromosomal breakage induced by crosslinking agents",
"Short stature",
- "Microcephaly"
+ "Hearing impairment",
+ "Facial palsy"
],
"has_phenotype_closure": [
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "UBERON:0000475",
- "UPHENO:0002926",
- "UPHENO:0002844",
- "UPHENO:0002736",
- "HP:0012443",
- "UPHENO:0081566",
- "UPHENO:0080200",
- "UPHENO:0086589",
- "UPHENO:0004704",
+ "UBERON:0005090",
+ "UBERON:0018254",
+ "UPHENO:0002359",
+ "UPHENO:0002360",
+ "UPHENO:0081700",
"HP:0000152",
- "UPHENO:0002764",
- "UBERON:0013701",
- "UBERON:0011676",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UPHENO:3000000",
- "UBERON:0000955",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "UPHENO:0002746",
- "UPHENO:0003001",
- "UPHENO:0080079",
- "UBERON:0005944",
- "UBERON:0011138",
- "UPHENO:0004521",
- "UBERON:0010314",
+ "UBERON:0001577",
+ "UPHENO:0002908",
+ "UPHENO:0076710",
+ "UPHENO:0004523",
+ "UPHENO:0004492",
+ "HP:0000301",
+ "UPHENO:0003081",
"HP:0000234",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0007811",
+ "UPHENO:0002928",
+ "UPHENO:0002269",
+ "HP:0000707",
+ "HP:0010827",
+ "HP:0011805",
+ "UBERON:0013700",
+ "UBERON:0000010",
+ "UPHENO:0078730",
+ "UPHENO:0080555",
+ "HP:0031910",
+ "UPHENO:0005116",
+ "UPHENO:0002320",
+ "HP:0012638",
+ "UPHENO:0004508",
+ "HP:0006824",
+ "UBERON:0004473",
+ "HP:0011804",
+ "UBERON:0015789",
+ "UBERON:0001021",
+ "UBERON:0001033",
+ "UBERON:0000122",
+ "UBERON:0034713",
+ "UPHENO:0002759",
+ "UPHENO:0002562",
+ "UBERON:0001444",
+ "HP:0001324",
+ "UPHENO:3000000",
+ "UPHENO:0002810",
+ "UPHENO:0003587",
+ "HP:0011799",
+ "UBERON:0004461",
+ "UPHENO:0003026",
+ "UBERON:0000020",
+ "UBERON:0001032",
+ "UPHENO:0002386",
+ "UPHENO:0003412",
+ "UPHENO:0002240",
+ "UPHENO:0002267",
+ "UPHENO:0002308",
+ "UBERON:0001785",
+ "HP:0000598",
+ "UPHENO:0002866",
+ "UPHENO:0052970",
+ "UPHENO:0003025",
+ "UPHENO:0005206",
+ "UBERON:0011676",
"UBERON:0013702",
- "UBERON:0001016",
- "NCBITaxon:1",
- "UPHENO:0004802",
- "UBERON:0001890",
- "UBERON:0001893",
- "HP:0000240",
- "UBERON:0004121",
- "HP:0000929",
- "HP:0002977",
- "HP:0033405",
- "UPHENO:0077826",
- "HP:0012145",
- "UPHENO:0086173",
- "CHEBI:33579",
- "UBERON:0000481",
- "HP:0005528",
- "UPHENO:0050435",
- "UPHENO:0077373",
- "UPHENO:0085371",
- "CL:0000000",
+ "UPHENO:0002553",
+ "GO:0050954",
+ "GO:0032501",
+ "UPHENO:0046426",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "GO:0007605",
+ "UPHENO:0002764",
+ "UPHENO:0050106",
+ "GO:0060255",
+ "UPHENO:0002352",
+ "UPHENO:0052231",
+ "UPHENO:0005437",
+ "UBERON:0002105",
+ "UPHENO:0005214",
+ "UPHENO:0052159",
+ "UPHENO:0002880",
+ "UPHENO:0005518",
+ "UPHENO:0005596",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0002632",
+ "UBERON:0034925",
+ "UPHENO:0080377",
+ "UBERON:0006717",
+ "CL:0002191",
+ "UBERON:0001690",
+ "UPHENO:0069254",
"UPHENO:0080351",
- "CL:0000458",
- "CHEBI:33675",
- "UBERON:0010912",
- "CL:0000151",
+ "UPHENO:0049874",
+ "UPHENO:0081424",
+ "HP:0001507",
+ "UPHENO:0049703",
+ "GO:0010468",
+ "GO:0050789",
+ "HP:0025354",
"UPHENO:0050126",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "HP:0011873",
+ "BFO:0000015",
+ "UBERON:0000153",
+ "UPHENO:0050063",
+ "UPHENO:0049587",
+ "HP:0003220",
+ "GO:0009889",
+ "UBERON:0010741",
+ "GO:0065007",
+ "HP:0003221",
+ "HP:0011017",
+ "UPHENO:0012312",
+ "UPHENO:0049868",
+ "GO:0031326",
+ "UBERON:5001463",
"UPHENO:0049642",
- "HP:0010974",
- "UBERON:0002405",
- "UPHENO:0004503",
- "UPHENO:0050025",
- "UPHENO:0063787",
+ "UPHENO:0050065",
+ "UPHENO:0050040",
+ "UBERON:0012140",
+ "HP:0001510",
+ "GO:0031049",
+ "UBERON:0010314",
+ "UPHENO:0052160",
+ "UBERON:0004708",
+ "HP:0004322",
+ "UPHENO:0049620",
+ "UPHENO:3000003",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "GO:0048523",
+ "UBERON:0014892",
+ "UPHENO:0003514",
+ "CL:0000835",
+ "UPHENO:0050784",
+ "UPHENO:0069605",
+ "GO:0010558",
+ "UPHENO:0050778",
+ "CL:0002092",
+ "GO:0010605",
+ "UBERON:0000475",
+ "GO:0050877",
+ "HP:0001903",
+ "UPHENO:0002433",
+ "CL:0008001",
+ "UPHENO:0046552",
+ "CL:0002031",
+ "UPHENO:0080114",
+ "CL:0011115",
+ "HP:0002664",
+ "HP:0001881",
+ "HP:0001909",
+ "HP:0010987",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "UPHENO:0049699",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0052178",
+ "UBERON:5102389",
+ "UPHENO:0052161",
+ "HP:0009602",
+ "HP:0009997",
+ "UBERON:0004249",
+ "UBERON:0002495",
+ "UBERON:0004381",
+ "GO:0042592",
+ "HP:0005918",
+ "UBERON:0012151",
+ "UPHENO:0002948",
+ "UBERON:0012357",
+ "UPHENO:0002926",
+ "UBERON:0001436",
+ "UBERON:0008229",
+ "HP:0005528",
+ "UBERON:0000075",
+ "UPHENO:0003022",
+ "HP:0001167",
+ "UPHENO:0086635",
+ "UPHENO:0084448",
+ "UBERON:0002091",
+ "CL:0011026",
+ "GO:0031323",
+ "HP:0002817",
+ "UPHENO:0003069",
+ "HP:0009778",
+ "UPHENO:0046750",
+ "UPHENO:0002593",
+ "UPHENO:0002830",
+ "UPHENO:0076740",
+ "UPHENO:0046741",
+ "GO:0009890",
+ "UBERON:0011582",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0088186",
+ "UPHENO:0002870",
+ "UBERON:5102544",
+ "UPHENO:0002648",
"UBERON:0000062",
- "HP:0002060",
- "UBERON:0001062",
- "CHEBI:33285",
+ "UPHENO:0002945",
+ "HP:0000271",
+ "GO:0010629",
+ "HP:0002813",
+ "UPHENO:0003082",
"HP:0000118",
- "UPHENO:0086016",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0087907",
- "UPHENO:0002532",
+ "UPHENO:0075195",
+ "UBERON:0002529",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UPHENO:0004142",
+ "UBERON:0010543",
+ "HP:0001872",
+ "UBERON:0019221",
"BFO:0000040",
- "GO:0031324",
- "UPHENO:0081581",
- "HP:0001873",
- "HP:0001871",
- "CL:0000255",
+ "UBERON:0002101",
+ "UBERON:0002204",
+ "UPHENO:0005517",
+ "UPHENO:0002600",
+ "UBERON:0005897",
+ "UBERON:0002389",
+ "UBERON:0000026",
+ "GO:0050794",
+ "UPHENO:0046740",
+ "UPHENO:0002976",
+ "UPHENO:0005513",
+ "UBERON:5101463",
+ "UPHENO:0004909",
+ "UPHENO:0004476",
+ "UPHENO:0005512",
+ "UBERON:0001474",
+ "UPHENO:0063794",
+ "UBERON:0003221",
+ "UPHENO:0050025",
+ "HP:0011842",
+ "HP:0004808",
+ "HP:0001155",
+ "UBERON:0005451",
+ "UBERON:0002102",
+ "UPHENO:0087006",
+ "UPHENO:0069266",
+ "UBERON:0004288",
+ "UBERON:0002376",
+ "UPHENO:0003227",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UPHENO:0050625",
+ "UBERON:0019231",
+ "UPHENO:0076723",
"UPHENO:0049743",
- "CL:0000738",
- "UPHENO:0001001",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010987",
- "UBERON:0000383",
- "UPHENO:0002963",
- "UPHENO:0085344",
- "UBERON:0000479",
- "HP:0011893",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "UPHENO:0002525",
- "HP:0032180",
- "BFO:0000020",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0002948",
+ "UPHENO:0084763",
+ "UBERON:0012475",
+ "UPHENO:0046707",
+ "UPHENO:0003065",
+ "GO:0040007",
+ "UPHENO:0080099",
+ "HP:0000924",
+ "UBERON:0010363",
+ "HP:0002715",
+ "UBERON:0015024",
+ "UPHENO:0077391",
+ "UPHENO:0080126",
+ "UBERON:5002544",
+ "UPHENO:0002905",
+ "UPHENO:0001003",
+ "HP:0011927",
+ "UBERON:0010740",
+ "HP:0000364",
+ "RO:0002577",
+ "UPHENO:0050435",
+ "HP:0006265",
+ "UBERON:0011779",
+ "HP:0006496",
+ "UBERON:0015212",
+ "UPHENO:0003799",
+ "HP:0009815",
+ "GO:0007600",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0002896",
+ "UBERON:0006058",
+ "UPHENO:0080079",
+ "UBERON:0015063",
+ "UBERON:0010538",
+ "UPHENO:0081423",
+ "UBERON:0013701",
+ "HP:0009142",
+ "UPHENO:0002708",
+ "UBERON:0001647",
+ "UPHENO:0003095",
+ "HP:0012145",
+ "BFO:0000003",
+ "HP:0045060",
+ "UBERON:0007272",
+ "UBERON:5006048",
"UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "HP:0012639",
- "CL:0000775",
- "HP:0001874",
- "UPHENO:0004459",
- "NCBITaxon:33208",
- "PATO:0000001",
- "HP:0007364",
- "CL:0000233",
- "GO:0010558",
- "UBERON:0000463",
+ "CL:0000255",
+ "UBERON:0002398",
+ "UBERON:0001015",
+ "UPHENO:0002964",
+ "UPHENO:0002385",
+ "UPHENO:0003812",
+ "UPHENO:0002731",
"UPHENO:0076703",
- "BFO:0000004",
- "CHEBI:33302",
- "UPHENO:0077817",
- "UBERON:0000075",
- "CHEBI:15841",
- "GO:0019222",
- "UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0004505",
- "UPHENO:0086176",
- "BFO:0000001",
- "BFO:0000002",
- "UPHENO:0001002",
- "UBERON:0002390",
- "HP:0001510",
- "CL:0000225",
- "UPHENO:0048707",
- "CHEBI:50047",
- "UPHENO:0002530",
- "UPHENO:0050063",
- "CL:0000988",
- "HP:0012130",
- "CHEBI:33256",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
- "UPHENO:0086019",
- "CHEBI:50860",
- "UPHENO:0081423",
+ "GO:0048519",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UPHENO:0003049",
+ "UPHENO:0069236",
+ "GO:0008150",
+ "UPHENO:0003005",
+ "UBERON:0010712",
+ "UPHENO:0086633",
"CL:0000763",
- "UPHENO:0081547",
- "HP:0005561",
- "UBERON:0004765",
- "HP:0025461",
- "CL:0000457",
- "HP:0001881",
- "UPHENO:0000541",
- "GO:0031049",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "CL:0002092",
- "CL:0002242",
- "GO:0010605",
- "UBERON:0001474",
- "UBERON:0010000",
+ "UPHENO:0050620",
+ "UBERON:5002389",
+ "CL:0000000",
+ "UBERON:0001442",
+ "UBERON:0000465",
+ "UPHENO:0002650",
+ "UPHENO:0011531",
+ "UPHENO:0012274",
+ "UPHENO:0079876",
+ "UPHENO:0086700",
+ "UPHENO:0002604",
+ "UBERON:0010688",
+ "HP:0004275",
+ "UPHENO:0003047",
+ "UBERON:5106048",
+ "HP:0033127",
+ "UBERON:0004120",
+ "UPHENO:0076727",
+ "UPHENO:0049775",
+ "UPHENO:0046528",
+ "UPHENO:0002559",
+ "UPHENO:0002782",
+ "UPHENO:0085344",
+ "UPHENO:0075159",
+ "UPHENO:0001001",
+ "HP:0040012",
+ "UBERON:0001456",
+ "UBERON:0012358",
+ "UPHENO:0069674",
+ "UBERON:0001463",
+ "UPHENO:0069327",
+ "HP:0030319",
+ "HP:0001873",
+ "UBERON:0015025",
+ "UBERON:0006048",
+ "UPHENO:0002983",
+ "UBERON:0003620",
+ "UBERON:0010758",
+ "GO:0009987",
+ "UBERON:0002513",
+ "HP:0011297",
+ "UPHENO:0004494",
+ "GO:0009892",
+ "UPHENO:0002733",
+ "UPHENO:0080352",
+ "HP:0005561",
+ "UBERON:0002390",
+ "HP:0001172",
+ "UPHENO:0063787",
+ "UPHENO:0004459",
+ "HP:0009942",
+ "UPHENO:0002944",
+ "HP:0009601",
+ "HP:0005927",
+ "UBERON:0011249",
+ "HP:0001876",
+ "UPHENO:0002586",
+ "UPHENO:0088162",
+ "UPHENO:0003432",
+ "UPHENO:0005092",
+ "UBERON:0000033",
+ "UPHENO:0002568",
"UPHENO:0011498",
- "UBERON:0002371",
- "HP:0002715",
- "UPHENO:0077399",
- "NCBITaxon:33154",
- "CHEBI:33694",
- "HP:0032251",
- "UPHENO:0063794",
- "CL:0000219",
- "UPHENO:0089764",
- "UPHENO:0002976",
+ "HP:0001871",
+ "GO:0003008",
+ "HP:0001877",
+ "UPHENO:0012440",
+ "UBERON:0001630",
+ "UBERON:0005881",
"UPHENO:0080010",
- "HP:0003220",
- "HP:0001872",
- "UBERON:0000033",
+ "HP:0011844",
"CL:0000081",
- "UPHENO:0087123",
- "UPHENO:0085356",
- "GO:0031327",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
- "BFO:0000003",
- "UBERON:0004120",
- "HP:0006254",
+ "UPHENO:0046483",
+ "UPHENO:0069684",
+ "HP:0000365",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "HP:0032251",
+ "UPHENO:0088166",
+ "HP:0011875",
+ "UPHENO:0076675",
+ "UBERON:0010912",
+ "UPHENO:0077418",
+ "UPHENO:0082875",
+ "UBERON:0010708",
+ "UBERON:0004710",
+ "HP:0011793",
+ "UPHENO:0046445",
+ "UPHENO:0002949",
+ "UPHENO:0085371",
+ "UBERON:0012141",
+ "UPHENO:0077373",
+ "UBERON:0004765",
+ "HP:0031704",
"UPHENO:0011536",
- "HP:0020047",
- "HP:0430071",
- "HP:0025354",
- "UPHENO:0002548",
- "UPHENO:0006894",
- "UPHENO:0081424",
- "UPHENO:0005092",
- "UBERON:0034925",
- "UBERON:0001017",
- "UPHENO:0002568",
- "HP:0001903",
- "UPHENO:0077391",
- "UPHENO:0050007",
- "UBERON:0015203",
+ "UPHENO:0002570",
+ "GO:0005623",
+ "UBERON:0007811",
+ "UPHENO:0046411",
+ "UBERON:0001434",
+ "UPHENO:0085302",
+ "UPHENO:0046624",
+ "UPHENO:0003415",
+ "UBERON:0002405",
+ "UPHENO:0002903",
+ "UBERON:0000383",
+ "HP:0005922",
+ "UBERON:0015021",
+ "UPHENO:0002525",
+ "UPHENO:0012308",
+ "CL:0000329",
+ "UBERON:0011250",
+ "UPHENO:0002526",
+ "UPHENO:0069062",
+ "UPHENO:0005433",
+ "UPHENO:0052165",
+ "HP:0009381",
+ "UPHENO:0086173",
+ "UPHENO:0002536",
"UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "UPHENO:0080352",
- "UPHENO:0002964",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0087123",
+ "UBERON:0002428",
+ "CL:0000233",
+ "UPHENO:0088170",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "CL:0000839",
+ "UBERON:0010959",
+ "UBERON:0004375",
"CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "UBERON:0002193",
- "UPHENO:0011531",
- "UPHENO:0049775",
+ "UBERON:0010707",
+ "UPHENO:0076692",
+ "UPHENO:0002861",
"HP:0000001",
- "HP:0009121",
- "GO:0048523",
- "HP:0011875",
- "CHEBI:35352",
- "UPHENO:0076286",
- "GO:0009892",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UPHENO:0068971",
- "UBERON:0011216",
- "UBERON:0000467",
- "UPHENO:0048751",
- "HP:0001875",
- "UPHENO:0077822",
- "HP:0000252",
- "UBERON:0006314",
- "UPHENO:0004418",
- "UPHENO:0088176",
- "UPHENO:0046284",
- "GO:0042592",
+ "UBERON:0015023",
+ "UBERON:0015203",
+ "UBERON:0012139",
+ "CL:0000457",
+ "UPHENO:0081709",
+ "UPHENO:0081581",
+ "BFO:0000001",
+ "UPHENO:0002910",
+ "CL:0000738",
+ "HP:0011873",
+ "UBERON:0004456",
"GO:0008152",
- "CHEBI:51143",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "CHEBI:24431",
- "CHEBI:16541",
- "CHEBI:33695",
- "CHEBI:25806",
- "CHEBI:36962",
"HP:0001939",
- "CL:0000094",
- "UPHENO:0050040",
- "UPHENO:0051804",
- "GO:0008150",
- "HP:0001877",
- "CHEBI:16670",
- "UPHENO:0088170",
- "UPHENO:0089759",
- "UBERON:0011137",
- "CHEBI:32988",
- "UPHENO:0046378",
- "UPHENO:0003025",
- "HP:0045056",
- "UPHENO:0078606",
- "GO:0005623",
- "HP:0003221",
- "CHEBI:23367",
- "HP:0010876",
- "UPHENO:0004523",
- "PR:000003809",
- "CHEBI:33582",
- "CHEBI:33304",
- "UPHENO:0046383",
- "UBERON:0002090",
- "UPHENO:0049757",
- "UBERON:0010323",
- "UPHENO:0051612",
- "PR:000064867",
- "UPHENO:0050065",
- "UPHENO:0049904",
- "CHEBI:36963",
- "HP:0004364",
- "UBERON:0000178",
- "NCBITaxon:6072",
- "UPHENO:0051763",
- "UBERON:0000179",
- "CHEBI:33839",
- "GO:0050789",
- "UPHENO:0050778",
- "UPHENO:0086172",
- "GO:0065007",
- "CHEBI:36357",
- "GO:0010468",
- "UPHENO:0069254",
- "BFO:0000015",
- "HP:0011017",
- "GO:0031052",
- "UBERON:0000153",
- "UPHENO:0002536",
- "GO:0009890",
- "HP:0011842",
- "UPHENO:0069266",
- "CHEBI:37622",
- "GO:0031326",
- "GO:0010556",
- "HP:0040012",
- "UPHENO:0049620",
- "UPHENO:0075804",
"CL:0000232",
- "GO:0040007",
- "GO:0048519",
+ "UPHENO:0080556",
+ "UBERON:0000468",
+ "UBERON:0012354",
+ "BFO:0000004",
+ "CL:0002242",
+ "HP:0004377",
+ "UPHENO:0002897",
+ "UBERON:0011216",
+ "UBERON:0034923",
+ "HP:0002488",
+ "UBERON:0008785",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
+ "UBERON:0002193",
"UBERON:0000061",
- "GO:0050794",
- "CHEBI:36080",
- "UPHENO:0050784",
- "GO:0010629",
- "UPHENO:0049868",
- "HP:0033127",
- "GO:0031323",
- "GO:0009889",
- "GO:0060255",
- "PR:000018263",
- "UPHENO:0088162",
- "CL:0000329",
- "CL:0000764",
- "HP:0001507",
- "UPHENO:0002553",
- "UPHENO:0049874",
- "HP:0004322",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UPHENO:0075159",
- "UPHENO:0069062",
- "UPHENO:0075195",
- "UPHENO:0069327",
- "CL:0000766",
- "HP:0000002"
+ "CL:0000458",
+ "CL:0000225",
+ "BFO:0000002",
+ "UBERON:0000479",
+ "UBERON:0001062",
+ "UPHENO:0002530",
+ "UBERON:0002544",
+ "CL:0000988",
+ "UPHENO:0086172",
+ "UPHENO:0002554",
+ "UBERON:0005162",
+ "UBERON:0001440",
+ "UPHENO:0002963",
+ "HP:0010628",
+ "UBERON:0002371",
+ "HP:0000002",
+ "HP:0003011",
+ "UPHENO:0068971",
+ "GO:0010556",
+ "CL:0000151",
+ "CL:0000219",
+ "UBERON:0012150",
+ "UBERON:0000467"
],
"has_phenotype_closure_label": [
- "subdivision of skeletal system phenotype",
- "nervous system",
- "cellular organisms",
+ "subdivision of head",
+ "nerve",
+ "gustatory system phenotype",
+ "Abnormality of facial musculature",
"Abnormality of the nervous system",
- "brain morphology phenotype",
- "subdivision of organism along main body axis phenotype",
- "Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "cranial skeletal system phenotype",
- "ectoderm-derived structure",
- "Abnormal skull morphology",
- "main body axis",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "facial nerve phenotype",
+ "cranial muscle phenotype",
+ "craniofacial/craniocervical phenotype",
+ "craniocervical muscle",
+ "face",
+ "Abnormal muscle physiology",
+ "skeletal musculature phenotype",
+ "multi cell part structure",
+ "facial muscle phenotype",
+ "Cranial nerve paralysis",
+ "facial muscle",
+ "neuron projection bundle",
+ "facial nerve",
+ "craniocervical muscle phenotype",
+ "muscle organ physiology phenotype",
+ "muscle structure",
+ "skeletal musculature",
+ "multi cell part structure phenotype",
+ "cranial or facial muscle phenotype",
+ "skeletal musculature of head",
+ "gustatory system",
+ "cranial neuron projection bundle",
+ "paralysed cranial nerve",
+ "cranial nerve physiology phenotype",
+ "face phenotype",
+ "axial musculature",
+ "decreased muscle organ strength",
+ "Abnormal nervous system physiology",
+ "muscle organ phenotype",
+ "Abnormality of facial soft tissue",
+ "muscle structure physiology phenotype",
+ "Abnormal cranial nerve physiology",
+ "lateral structure physiology phenotype",
+ "nerve of head region phenotype",
+ "nerve phenotype",
+ "sensory system",
+ "system process phenotype",
+ "decreased qualitatively nervous system process",
+ "anatomical structure physiology phenotype",
+ "decreased multicellular organismal process",
"structure with developmental contribution from neural crest phenotype",
- "craniocervical region morphology phenotype",
- "skull phenotype",
+ "Abnormal ear physiology",
+ "nervous system process",
+ "nervous system",
+ "multicellular organismal process",
+ "nervous system process phenotype",
+ "multicellular organismal process phenotype",
+ "sensory perception phenotype",
+ "system process",
+ "sense organ physiology phenotype",
+ "structure with developmental contribution from neural crest",
+ "organ physiology phenotype",
+ "decreased sensory perception of mechanical stimulus",
+ "sensory perception of sound",
+ "decreased anatomical entity strength",
+ "multicellular anatomical structure physiology phenotype",
+ "vestibulo-auditory system",
+ "main body axis",
+ "subdivision of organism along main body axis phenotype",
+ "sensory perception of mechanical stimulus phenotype",
+ "phenotypic effect",
+ "entire sense organ system",
+ "appendicular skeleton phenotype",
+ "decreased qualitatively sensory perception",
"head phenotype",
- "regional part of nervous system phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "forebrain",
- "telencephalon",
- "nervous system phenotype",
- "Aplasia/Hypoplasia of the cerebrum",
- "Abnormality of head or neck",
- "skeleton",
- "organ phenotype",
- "Eukaryota",
- "craniocervical region phenotype",
- "multi-tissue structure phenotype",
- "craniofacial/craniocervical phenotype",
- "regional part of brain",
- "central nervous system",
- "organism subdivision phenotype",
- "head morphology phenotype",
- "head",
- "forebrain morphology phenotype",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "molecular entity",
- "Bone marrow hypocellularity",
- "multicellular organism chemical entity level phenotype",
- "Abnormality of thrombocytes",
- "Abnormal platelet count",
- "secretory cell",
- "platelet",
+ "manual digit phenotype",
+ "sense organ",
+ "skeletal muscle organ, vertebrate phenotype",
"body proper",
- "entity",
- "number of hematopoietic cell phenotype",
- "size of multicellular organism phenotype",
- "Thrombocytopenia",
- "Abnormal circulating nitrogen compound concentration",
- "decreased height of the anatomical entity",
- "Phenotypic abnormality",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "nervous system morphology phenotype",
- "platelet phenotype",
- "decreased number of myeloid cell",
- "musculature of body",
- "skeletal system",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "decreased number of neutrophil",
- "neutrophil phenotype",
- "anatomical system",
- "Abnormal myeloid cell morphology",
+ "Hearing impairment",
+ "Abnormality of thrombocytes",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "segment of manus",
+ "Growth delay",
+ "Abnormality of body height",
+ "decreased height of the multicellular organism",
+ "multicellular organism height phenotype",
+ "delayed biological_process",
+ "decreased size of the multicellular organism",
+ "limb skeleton subdivision",
+ "Growth abnormality",
+ "negative regulation of biological process phenotype",
"negative regulation of biological process",
- "biogenic amine secreting cell",
- "decreased number of anatomical structure",
- "decreased number of cell",
- "skeletal system morphology phenotype",
- "blood chemical entity level phenotype",
- "blood alpha-fetoprotein level phenotype",
- "organ system subdivision phenotype",
- "amide",
- "number of anatomical enitites of type neutrophil phenotype",
- "Neutropenia",
- "regulation of cellular process",
- "Abnormal cellular phenotype",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "Decreased head circumference",
- "independent continuant",
- "negative regulation of cellular process phenotype",
- "blood cell phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "Abnormal circulating organic compound concentration",
- "craniocervical region",
- "Abnormality of multiple cell lineages in the bone marrow",
- "hematopoietic system",
- "bone cell",
- "blood organic molecular entity level phenotype",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
- "number of cell phenotype",
- "eukaryotic cell",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "regulation of cellular metabolic process",
- "skull morphology phenotype",
- "motile cell",
+ "negative regulation of gene expression",
+ "organism subdivision",
+ "manual digit 1 plus metapodial segment",
+ "biological regulation",
+ "autopodial extension phenotype",
+ "negative regulation of metabolic process phenotype",
+ "process",
+ "Thrombocytopenia",
+ "biological_process",
+ "regulation of cellular process phenotype",
+ "regulation of macromolecule biosynthetic process",
+ "manual digit phalanx endochondral element",
+ "negative regulation of biosynthetic process",
"negative regulation of macromolecule metabolic process",
- "multicellular anatomical structure phenotype",
- "hematopoietic cell",
- "number of anatomical enitites of type granulocyte phenotype",
- "alpha-fetoprotein",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "Abnormal forebrain morphology",
- "number of platelet phenotype",
- "skeletal system phenotype",
- "skeletal element",
- "structure with developmental contribution from neural crest",
- "neutrophil",
- "bone element",
- "p-block molecular entity",
- "biological regulation phenotype",
- "musculature",
- "organonitrogen compound",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "decreased number of material anatomical entity",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "continuant",
- "negative regulation of gene expression phenotype",
- "subdivision of organism along main body axis",
- "decreased number of platelet",
- "negative regulation of metabolic process",
- "musculoskeletal system",
- "immune system",
- "chalcogen molecular entity",
- "material entity",
- "main group molecular entity",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "information biomacromolecule",
- "taxon specific phenotype",
- "growth phenotype",
+ "number of cell phenotype",
+ "Abnormal cellular phenotype",
+ "regulation of cellular biosynthetic process phenotype",
+ "limb bone morphology phenotype",
+ "regulation of gene expression",
+ "negative regulation of macromolecule biosynthetic process",
+ "decreased size of the material anatomical entity",
+ "skeleton of limb",
+ "obsolete regulation of cellular metabolic process",
+ "number of hematopoietic cell phenotype",
+ "Abnormal cellular physiology",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "regulation of metabolic process",
+ "decreased length of manual digit 1 or 5",
+ "regulation of gene expression phenotype",
+ "cell phenotype",
+ "endochondral bone phenotype",
"regulation of biosynthetic process phenotype",
- "Abnormality of the skeletal system",
- "organic amino compound",
+ "Anemia",
+ "Abnormal erythrocyte morphology",
+ "size of multicellular organism phenotype",
+ "obsolete cell",
+ "erythrocyte morphology phenotype",
+ "Acute leukemia",
+ "nervous system phenotype",
+ "decreased sensory perception",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "immune system phenotype",
+ "granulocytopoietic cell",
+ "myeloid lineage restricted progenitor cell",
+ "motile cell",
+ "decreased length of material anatomical entity",
+ "regulation of biological process",
+ "leukocyte morphology phenotype",
+ "manual digit 1 phalanx endochondral element",
+ "Acute myeloid leukemia",
+ "endochondral bone",
+ "Abnormal immune system morphology",
+ "craniocervical region phenotype",
+ "Neoplasm by anatomical site",
+ "programmed DNA elimination",
+ "progenitor cell",
+ "ear",
+ "decreased qualitatively system process",
+ "forelimb",
+ "Neoplasm",
+ "neoplasm phenotype",
+ "peripheral nervous system",
+ "bone of pectoral complex",
+ "cellular process",
+ "Duplication of phalanx of hand",
+ "Abnormality of metabolism/homeostasis",
+ "anatomical system physiology phenotype",
+ "skeleton of digitopodium",
"Abnormal bone marrow cell morphology",
- "multicellular organism",
+ "autopod region phenotype",
+ "skeleton of manual digitopodium",
+ "individual digit of digitopodial skeleton",
+ "manual digit bone",
+ "digit 1 digitopodial skeleton",
+ "Abnormality of thumb phalanx",
+ "biological_process phenotype",
+ "Hearing abnormality",
+ "manual digit digitopodial skeleton",
+ "obsolete regulation of cellular biosynthetic process",
+ "skeleton of manual acropodium",
+ "subdivision of head phenotype",
+ "craniocervical region",
+ "decreased size of the autopodial extension",
+ "hematopoietic lineage restricted progenitor cell",
+ "Short thumb",
+ "forelimb long bone",
+ "Duplication of thumb phalanx",
+ "Duplication of bones involving the upper extremities",
+ "manual digitopodium bone",
+ "digitopodium bone",
+ "decreased qualitatively sensory perception of sound",
+ "nerve of head region",
+ "phalanx of manus",
+ "Bone marrow hypocellularity",
+ "limb segment",
+ "cranial muscle",
+ "digit 1 or 5",
+ "sensory perception of mechanical stimulus",
+ "Short digit",
+ "pectoral appendage",
+ "Hematological neoplasm",
+ "decreased sensory perception of sound",
+ "muscle organ morphology phenotype",
+ "Short stature",
+ "arm",
+ "cranial nerve phenotype",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "sensory perception of sound phenotype",
+ "bone of free limb or fin",
+ "negative regulation of gene expression phenotype",
+ "acropodial skeleton",
+ "decreased size of the multicellular anatomical structure",
+ "anatomical collection phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "limb skeleton subdivision phenotype",
+ "lateral structure phenotype",
+ "organ phenotype",
+ "multicellular anatomical structure phenotype",
+ "decreased system process",
+ "Abnormality of the musculature",
+ "forelimb skeleton",
+ "segment of autopod",
+ "upper limb segment",
+ "digit 1",
+ "paired limb/fin segment",
+ "multi-limb segment region",
+ "material anatomical entity physiology phenotype",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
"Abnormal platelet morphology",
- "granulocyte morphology phenotype",
- "immune system morphology phenotype",
- "organochalcogen compound",
- "chemical entity",
- "skull",
- "regulation of macromolecule metabolic process phenotype",
- "ectoderm-derived structure phenotype",
- "protein polypeptide chain",
- "multicellular organism height phenotype",
- "Abnormality of skull size",
- "role bodily fluid level phenotype",
- "anatomical entity",
- "Abnormal circulating metabolite concentration",
- "decreased number of anatomical entity",
- "decreased size of the material anatomical entity",
- "cranial skeletal system",
+ "limb",
+ "digit",
+ "endochondral element",
+ "Chromosomal breakage induced by crosslinking agents",
+ "appendicular skeleton morphology phenotype",
+ "manus bone",
+ "paralysed anatomical entity",
+ "manual digit morphology in the manus phenotype",
+ "Leukemia",
+ "skeletal system",
+ "musculature of body phenotype",
+ "digit phenotype",
+ "sensory perception",
+ "Abnormality of the face",
+ "decreased length of manual digit 1",
+ "Abnormal digit morphology",
+ "subdivision of organism along appendicular axis phenotype",
+ "musculoskeletal system phenotype",
+ "limb morphology phenotype",
+ "bone cell",
+ "Abnormality of the skeletal system",
+ "number of myeloid cell phenotype",
+ "subdivision of skeleton",
+ "manual digit",
"anatomical entity morphology phenotype",
- "brain phenotype",
- "regulation of macromolecule biosynthetic process phenotype",
- "organ",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "blood oxygen molecular entity level phenotype",
+ "system",
+ "multi-limb segment region phenotype",
+ "Abnormality of multiple cell lineages in the bone marrow",
"Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormality of blood and blood-forming tissues",
- "subdivision of skeleton",
- "organism substance phenotype",
- "brain",
- "erythrocyte",
- "organic molecular entity",
- "anatomical entity phenotype",
- "material anatomical entity",
- "anterior region of body",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "myeloid leukocyte phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "autopod region morphology phenotype",
+ "decreased length of anatomical structure",
"anucleate cell",
- "anatomical structure",
- "Metazoa",
- "organism subdivision",
- "homeostatic process phenotype",
- "regulation of biosynthetic process",
- "disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "negative regulation of cellular biosynthetic process",
- "myeloid cell",
- "musculature of body phenotype",
- "Abnormal leukocyte count",
- "Short stature",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "anatomical entity height phenotype",
- "number of leukocyte phenotype",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Elevated circulating alpha-fetoprotein concentration",
+ "paired limb/fin skeleton",
+ "independent continuant",
+ "immune system morphology phenotype",
+ "limb phenotype",
+ "appendage girdle complex",
+ "regulation of macromolecule metabolic process phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "subdivision of skeletal system phenotype",
+ "anatomical entity length phenotype",
+ "decreased size of the anatomical entity",
+ "lateral structure",
+ "Pancytopenia",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "decreased size of the digit",
+ "manual digit 1",
+ "manual digit 1 digitopodial skeleton",
+ "skeleton of manus",
+ "muscle structure phenotype",
+ "negative regulation of cellular process phenotype",
+ "paired limb/fin",
+ "musculature of body",
+ "Abnormal cellular immune system morphology",
+ "bone marrow cell",
+ "Abnormality of the musculoskeletal system",
+ "Abnormality of head or neck",
+ "autopodial extension",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "Aplasia/Hypoplasia of fingers",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "organism subdivision phenotype",
+ "appendage",
+ "growth phenotype",
+ "limb long bone",
+ "cell",
+ "limb endochondral element phenotype",
+ "homeostatic process",
+ "arm phenotype",
+ "anterior region of body",
+ "Abnormal finger phalanx morphology",
+ "subdivision of skeleton phenotype",
+ "digit 1 phenotype",
+ "occurrent",
+ "Abnormality of the upper limb",
+ "organ system subdivision phenotype",
+ "growth",
+ "manus morphology phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "regulation of cellular process",
+ "decreased length of organism subdivision",
+ "platelet phenotype",
+ "ear physiology phenotype",
+ "digitopodium region",
+ "manus phenotype",
+ "digit 1 or 5 phenotype",
+ "Abnormal skeletal muscle morphology",
+ "pectoral appendage skeleton",
+ "programmed DNA elimination by chromosome breakage",
+ "decreased length of anatomical entity",
+ "paired limb/fin skeleton phenotype",
+ "delayed growth",
+ "skeleton of pectoral complex",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "long bone",
+ "skeleton",
+ "Aplasia/hypoplasia involving the skeleton",
+ "decreased size of the anatomical structure",
+ "manual digit 1 morphology phenotype",
+ "upper limb segment phenotype",
+ "aplasia or hypoplasia of manual digit",
+ "peripheral nervous system phenotype",
+ "acropodium region",
+ "size of anatomical entity phenotype",
+ "endochondral element phenotype",
+ "Facial palsy",
+ "manual digitopodium region",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Weakness of facial musculature",
+ "decreased size of the manual digit",
+ "appendage phenotype",
+ "Abnormal hand morphology",
+ "phalanx endochondral element",
+ "skeleton phenotype",
+ "limb bone phenotype",
+ "bone element phenotype",
+ "autopod endochondral element",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "digit morphology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "limb endochondral element",
+ "erythroid lineage cell morphology phenotype",
"anatomical structure phenotype",
- "nitrogen molecular entity",
- "hematopoietic system phenotype",
- "chemical entity level phenotype",
- "Abnormality of the head",
- "Abnormal circulating alpha-fetoprotein concentration",
- "phenotype",
- "peptide",
- "Abnormality of metabolism/homeostasis",
- "multicellular anatomical structure",
- "blood",
- "nitrogen molecular entity level phenotype",
- "serotonin secreting cell",
- "process",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "Abnormal thumb morphology",
+ "paired limb/fin phenotype",
+ "negative regulation of metabolic process",
+ "Short finger",
+ "Abnormal finger morphology",
+ "vestibulo-auditory system phenotype",
+ "decreased length of digit 1 or 5",
"negative regulation of macromolecule metabolic process phenotype",
+ "manus",
+ "anatomical structure",
+ "Abnormal platelet count",
+ "phenotype",
+ "appendicular skeletal system",
+ "aplasia or hypoplasia of manual digit 1",
+ "Abnormality of the ear",
+ "decreased length of manual digit",
+ "Duplication of hand bones",
+ "pectoral appendage phenotype",
+ "decreased nervous system process",
+ "non-connected functional system",
"aplasia or hypoplasia of anatomical entity",
- "polypeptide",
- "macromolecule",
- "biomacromolecule",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "bodily fluid",
- "Abnormality of the musculoskeletal system",
- "carbon group molecular entity",
- "multicellular organism phenotype",
- "increased level of alpha-fetoprotein",
- "carboxamide",
- "Abnormal circulating organic amino compound concentration",
- "regulation of cellular biosynthetic process phenotype",
- "negative regulation of gene expression",
- "primary amide",
- "haemolymphatic fluid phenotype",
- "organism substance",
- "oxygen molecular entity",
- "polyatomic entity",
- "occurrent",
- "programmed DNA elimination",
- "Abnormal granulocyte count",
- "protein-containing molecular entity",
- "Abnormality of body height",
- "haemolymphatic fluid",
- "biological_process",
- "blood phenotype",
- "homeostatic process",
+ "regulation of biological process phenotype",
+ "subdivision of organism along main body axis",
+ "material anatomical entity phenotype",
+ "decreased size of the organism subdivision",
+ "forelimb morphology phenotype",
+ "decreased number of cell",
+ "Abnormality of chromosome stability",
+ "decreased number of myeloid cell",
+ "decreased biological_process",
"metabolic process",
- "leukocyte",
- "pnictogen molecular entity",
- "blood nitrogen molecular entity level phenotype",
- "Abnormal cell morphology",
- "heteroorganic entity",
- "anatomical system phenotype",
- "organooxygen compound",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "decreased length of autopodial extension",
"Abnormality of the immune system",
- "blood cell",
- "biological regulation",
- "bodily fluid phenotype",
- "Abnormality of chromosome stability",
- "biological_process phenotype",
+ "bone of appendage girdle complex phenotype",
"oxygen accumulating cell",
- "protein",
- "Abnormal circulating protein concentration",
- "blood organic amino compound level phenotype",
- "specifically dependent continuant",
- "alpha-fetoprotein level phenotype",
- "role blood level phenotype",
- "hemolymphoid system",
- "programmed DNA elimination by chromosome breakage phenotype",
- "blood protein polypeptide chain level phenotype",
- "regional part of brain phenotype",
- "increased level of chemical entity",
- "Chromosomal breakage induced by crosslinking agents",
- "negative regulation of cellular process",
- "postcranial axial skeleton",
- "regulation of gene expression",
- "obsolete cell",
- "decreased number of leukocyte",
- "negative regulation of biosynthetic process",
- "regulation of cellular biosynthetic process",
- "regulation of macromolecule biosynthetic process",
- "regulation of gene expression phenotype",
- "subdivision of skeletal system",
+ "anatomical entity phenotype",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "blood cell phenotype",
+ "manual digit 1 phalanx",
+ "limb bone",
+ "mesoderm-derived structure",
+ "Abnormality of limb bone",
+ "multicellular organism phenotype",
+ "Muscle weakness",
+ "ear phenotype",
+ "neuron projection bundle phenotype",
+ "decreased number of material anatomical entity",
+ "hematopoietic system phenotype",
+ "manual digit 1 or 5",
"number of anatomical enitites of type material anatomical entity phenotype",
- "programmed DNA elimination by chromosome breakage",
- "regulation of biological process",
- "regulation of metabolic process",
- "negative regulation of metabolic process phenotype",
- "tissue",
- "regulation of biological process phenotype",
- "regulation of cellular process phenotype",
- "amino acid chain",
- "negative regulation of macromolecule biosynthetic process",
- "regulation of cellular metabolic process phenotype",
- "Abnormal cellular physiology",
- "regulation of macromolecule metabolic process",
- "erythrocyte morphology phenotype",
- "negative regulation of biological process phenotype",
- "size of anatomical entity phenotype",
- "Chromosome breakage",
+ "head",
+ "platelet",
"erythroid lineage cell",
- "decreased size of the multicellular anatomical structure",
- "Anemia",
- "erythroid lineage cell morphology phenotype",
- "decreased size of the multicellular organism",
- "Growth delay",
- "Growth abnormality",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "musculature phenotype",
+ "cranial neuron projection bundle phenotype",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "digit plus metapodial segment",
+ "immune system",
+ "skeletal muscle organ, vertebrate",
+ "paired limb/fin segment phenotype",
+ "entity",
+ "limb segment phenotype",
+ "decreased length of digit",
+ "myeloblast",
+ "decreased number of anatomical structure",
+ "Abnormality of blood and blood-forming tissues",
+ "Phenotypic abnormality",
+ "autopod region",
+ "craniocervical region musculature",
+ "anatomical collection",
+ "skeletal element phenotype",
+ "All",
+ "organ",
+ "decreased height of the anatomical entity",
"regulation of metabolic process phenotype",
- "decreased size of the anatomical structure",
- "decreased height of the multicellular organism",
- "negative regulation of cellular metabolic process",
- "delayed growth"
+ "multicellular organism morphology phenotype",
+ "cranial or facial muscle",
+ "serotonin secreting cell",
+ "multicellular organism",
+ "sense organ phenotype",
+ "homeostatic process phenotype",
+ "cranial nerve",
+ "bone element",
+ "decreased qualitatively biological_process",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "anatomical system phenotype",
+ "multicellular anatomical structure",
+ "biogenic amine secreting cell",
+ "taxon specific phenotype",
+ "forelimb phenotype",
+ "biological regulation phenotype",
+ "anatomical entity height phenotype",
+ "hematopoietic cell",
+ "negative regulation of cellular process",
+ "muscle organ",
+ "regulation of macromolecule metabolic process",
+ "phalanx",
+ "number of platelet phenotype",
+ "Abnormality of the hand",
+ "autopod bone",
+ "organ system subdivision",
+ "skeleton of limb phenotype",
+ "Abnormal leukocyte morphology",
+ "Abnormal appendicular skeleton morphology",
+ "nervous system physiology phenotype",
+ "eukaryotic cell",
+ "musculature of face",
+ "musculature",
+ "decreased qualitatively multicellular organismal process",
+ "musculoskeletal system",
+ "sensory system phenotype",
+ "decreased number of platelet",
+ "decreased length of digit 1",
+ "skeletal element",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "blood cell",
+ "material anatomical entity",
+ "mesoderm-derived structure phenotype",
+ "myeloid cell",
+ "decreased number of anatomical entity",
+ "biological_process rate phenotype",
+ "decreased number of hematopoietic cell",
+ "precursor cell",
+ "Abnormality of the head",
+ "disconnected anatomical group",
+ "hematopoietic system",
+ "material entity",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "bone of free limb or fin phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "Abnormal seventh cranial physiology",
+ "nucleate cell",
+ "musculature phenotype",
+ "anatomical entity",
+ "regulation of biosynthetic process",
+ "skeletal system phenotype",
+ "bone marrow",
+ "anatomical system",
+ "anatomical entity morphology in the manus phenotype",
+ "Chromosome breakage",
+ "secretory cell",
+ "autopodial skeleton",
+ "tissue",
+ "hematopoietic precursor cell",
+ "leukocyte",
+ "continuant",
+ "Abnormal limb bone morphology"
],
- "has_phenotype_count": 8,
+ "has_phenotype_count": 11,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0013565",
+ "id": "MONDO:0009213",
"category": "biolink:Disease",
- "name": "Fanconi anemia complementation group G",
+ "name": "Fanconi anemia complementation group C",
"full_name": null,
"deprecated": null,
- "description": "Fanconi anemia caused by mutations of the FANCG gene.",
+ "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.",
"xref": [
- "DOID:0111086",
- "GARD:15753",
- "MEDGEN:854017",
- "NCIT:C125708",
- "OMIM:614082",
- "UMLS:C3469527"
+ "DOID:0111087",
+ "GARD:15168",
+ "MEDGEN:483324",
+ "NCIT:C125704",
+ "OMIM:227645",
+ "UMLS:C3468041"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
"synonym": [
- "FANCG",
- "Fanconi Anemia, complementation group type G",
- "Fanconi anaemia complementation group type G",
- "Fanconi anemia complementation group G",
- "Fanconi anemia complementation group type G",
- "Fanconi anemia, complementation group G"
+ "FA3",
+ "FACC",
+ "FANCC",
+ "Fanconi Anemia, complementation group type C",
+ "Fanconi anaemia complementation group type C",
+ "Fanconi anemia complementation group C",
+ "Fanconi anemia complementation group type C",
+ "Fanconi anemia, complementation group C",
+ "Fanconi pancytopenia type 3",
+ "Fanconi pancytopenia, type 3",
+ "facc"
],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
+ "HP:0001017",
"HP:0001875",
- "HP:0002863",
- "HP:0001510",
+ "HP:0000104",
+ "HP:0003974",
+ "HP:0000028",
+ "HP:0001876",
+ "HP:0000325",
+ "HP:0009778",
"HP:0001873",
- "HP:0007565",
+ "HP:0001511",
+ "HP:0001896",
+ "HP:0009777",
"HP:0000568",
- "HP:0001172",
+ "HP:0001518",
+ "HP:0011940",
+ "HP:0003221",
+ "HP:0000252",
+ "HP:0001249",
+ "HP:0009943",
+ "HP:0005528",
+ "HP:0000978",
+ "HP:0009942",
+ "HP:0000953",
"HP:0001903",
- "HP:0003220",
+ "HP:0000957",
+ "HP:0000815",
+ "HP:0001629",
"HP:0001909",
- "HP:0000252"
+ "HP:0000081",
+ "HP:0000085",
+ "HP:0000086",
+ "HP:0001371",
+ "HP:0004322",
+ "HP:0000365",
+ "HP:0020073",
+ "HP:0000486",
+ "HP:0003214",
+ "HP:0003213",
+ "HP:0000286"
],
"has_phenotype_label": [
+ "Anemic pallor",
"Neutropenia",
- "Myelodysplasia",
- "Growth delay",
+ "Renal agenesis",
+ "Absent radius",
+ "Cryptorchidism",
+ "Pancytopenia",
+ "Triangular face",
+ "Short thumb",
"Thrombocytopenia",
- "Multiple cafe-au-lait spots",
+ "Intrauterine growth retardation",
+ "Reticulocytopenia",
+ "Absent thumb",
"Microphthalmia",
- "Abnormal thumb morphology",
+ "Small for gestational age",
+ "Anterior wedging of T12",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Microcephaly",
+ "Intellectual disability",
+ "Complete duplication of thumb phalanx",
+ "Bone marrow hypocellularity",
+ "Bruising susceptibility",
+ "Duplication of thumb phalanx",
+ "Hyperpigmentation of the skin",
"Anemia",
- "Abnormality of chromosome stability",
+ "Cafe-au-lait spot",
+ "Hypergonadotropic hypogonadism",
+ "Ventricular septal defect",
"Leukemia",
- "Microcephaly"
+ "Duplicated collecting system",
+ "Horseshoe kidney",
+ "Ectopic kidney",
+ "Flexion contracture",
+ "Short stature",
+ "Hearing impairment",
+ "Hypopigmented macule",
+ "Strabismus",
+ "Prolonged G2 phase of cell cycle",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "Epicanthus"
],
"has_phenotype_closure": [
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0003129",
- "UPHENO:0075220",
- "HP:0012443",
- "UPHENO:0081566",
+ "UPHENO:0001231",
+ "UPHENO:0072402",
+ "UPHENO:0072263",
+ "UBERON:1000021",
+ "UBERON:0001457",
+ "UPHENO:0001369",
+ "UPHENO:0087928",
+ "UPHENO:0072355",
+ "UPHENO:0087058",
+ "UPHENO:0072315",
+ "UBERON:0013766",
+ "UPHENO:0001147",
+ "UPHENO:0005319",
+ "UPHENO:0072195",
+ "UPHENO:0075878",
+ "UBERON:0012180",
+ "UBERON:0034944",
+ "UPHENO:0003021",
+ "UPHENO:0001134",
+ "UPHENO:0072293",
+ "UPHENO:0076761",
+ "UPHENO:0002643",
+ "UPHENO:0049873",
+ "GO:0006950",
+ "UPHENO:0087307",
+ "UPHENO:0049989",
+ "HP:0003254",
+ "UPHENO:0051124",
+ "UPHENO:0049652",
+ "GO:0006139",
+ "GO:0006974",
+ "UPHENO:0049720",
+ "UPHENO:0049588",
+ "GO:0090304",
+ "GO:0033554",
+ "UPHENO:0049586",
+ "UPHENO:0050121",
+ "UPHENO:0049952",
+ "HP:0011018",
+ "GO:0044848",
+ "HP:0032039",
+ "HP:0003214",
+ "GO:0051319",
+ "UPHENO:0002360",
+ "UBERON:0000015",
+ "NBO:0000001",
+ "NBO:0000444",
+ "UPHENO:0079826",
+ "UBERON:0006800",
+ "HP:0003213",
+ "HP:0000486",
+ "UPHENO:0002430",
+ "UPHENO:0079828",
+ "NBO:0000338",
+ "UPHENO:0002301",
+ "UPHENO:0072332",
+ "UPHENO:0005437",
+ "UPHENO:0003412",
+ "HP:0000598",
+ "UPHENO:0052970",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "HP:0000364",
+ "UPHENO:0052161",
+ "HP:0031704",
+ "UPHENO:0005517",
+ "UPHENO:0050625",
+ "UPHENO:0052165",
+ "UPHENO:0049703",
+ "UPHENO:0052231",
+ "UBERON:0002105",
+ "UPHENO:0052159",
+ "GO:0007600",
+ "UPHENO:0050234",
+ "UPHENO:0002211",
+ "UPHENO:0049964",
+ "UPHENO:0005513",
+ "UPHENO:0081423",
+ "GO:0044238",
+ "UPHENO:0075159",
+ "HP:0004322",
+ "HP:0000002",
+ "UPHENO:0080352",
+ "UPHENO:0081440",
+ "UPHENO:0046699",
+ "HP:0003011",
+ "UPHENO:0087888",
+ "UPHENO:0046706",
+ "UPHENO:0076710",
+ "HP:0034392",
+ "UPHENO:0002825",
+ "HP:0001371",
+ "UBERON:0000043",
+ "UPHENO:0046759",
+ "HP:0034430",
+ "UPHENO:0002712",
+ "UPHENO:0002699",
+ "UPHENO:0002698",
+ "UPHENO:0003047",
+ "UBERON:0007846",
+ "HP:0011843",
+ "UPHENO:0002564",
+ "UPHENO:0069218",
+ "UPHENO:0046638",
+ "UPHENO:0046606",
+ "UBERON:0007845",
+ "UPHENO:0053643",
+ "UPHENO:0053588",
+ "UPHENO:0053601",
+ "UPHENO:0053612",
+ "HP:0000086",
+ "HP:0000085",
+ "HP:0100261",
+ "HP:0000081",
+ "UBERON:0004100",
+ "UBERON:0000982",
+ "UPHENO:3000003",
+ "HP:0001909",
+ "HP:0011793",
+ "UPHENO:0076810",
+ "UPHENO:0004469",
+ "UPHENO:0033607",
+ "HP:0030680",
+ "UBERON:0005181",
+ "UPHENO:0002531",
+ "UPHENO:0015324",
+ "UPHENO:0004827",
+ "UPHENO:0033560",
+ "UPHENO:0002634",
+ "UPHENO:0050116",
+ "UBERON:0007100",
+ "UBERON:0005178",
+ "UPHENO:0003815",
+ "UPHENO:0015308",
+ "UBERON:0000948",
+ "UBERON:0004151",
+ "UBERON:0015410",
+ "UBERON:0002099",
+ "UPHENO:0003828",
+ "GO:0006259",
+ "UPHENO:0015281",
+ "UBERON:0000915",
+ "UPHENO:0033604",
+ "UPHENO:0003086",
+ "UPHENO:0075655",
+ "HP:0010438",
+ "UPHENO:0002386",
+ "UPHENO:0066927",
+ "UPHENO:0002308",
+ "UPHENO:0066902",
+ "UPHENO:0002381",
+ "UPHENO:0066972",
+ "HP:0000080",
+ "UPHENO:0066903",
+ "GO:0043170",
+ "UPHENO:0066905",
+ "UPHENO:0002323",
+ "UBERON:0000949",
+ "UPHENO:0002206",
+ "HP:0030669",
+ "UPHENO:0066913",
+ "UPHENO:0003116",
+ "HP:0008373",
+ "UPHENO:0024906",
+ "UPHENO:0004831",
+ "HP:0000135",
+ "HP:0012733",
+ "HP:0011355",
+ "HP:0001903",
+ "UPHENO:0054970",
+ "HP:0003549",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0001000",
+ "HP:0000953",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "HP:0002597",
+ "UPHENO:0002576",
+ "MPATH:105",
+ "MPATH:603",
+ "HP:0000978",
+ "UBERON:0000466",
+ "HP:0001933",
+ "UBERON:0004535",
+ "UBERON:0011818",
+ "UBERON:0007798",
+ "UBERON:0000477",
+ "UPHENO:9002003",
+ "HP:0011354",
+ "HP:0009943",
+ "UBERON:0012150",
+ "UPHENO:0004476",
+ "HP:0009602",
+ "HP:0009997",
+ "HP:0005918",
+ "HP:0004377",
+ "HP:0004275",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UBERON:5101463",
+ "UPHENO:0086002",
+ "UBERON:0012151",
+ "UBERON:0012139",
+ "UBERON:5106048",
+ "HP:0012759",
+ "UPHENO:0080079",
+ "UBERON:0003620",
+ "UPHENO:0002267",
+ "HP:0002977",
+ "UPHENO:0088170",
+ "UPHENO:0002866",
+ "UPHENO:0076702",
+ "BFO:0000015",
+ "GO:0031326",
"UPHENO:0004523",
+ "UPHENO:0002269",
+ "UPHENO:0003001",
+ "UPHENO:0046624",
+ "UPHENO:0025136",
+ "UPHENO:0081566",
+ "HP:0000707",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UBERON:0000479",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "UPHENO:0075220",
+ "UPHENO:0004621",
+ "HP:0000240",
+ "HP:0002060",
+ "UBERON:0012141",
+ "UBERON:0001890",
+ "UBERON:0001893",
+ "UPHENO:0052694",
+ "UPHENO:0002637",
+ "NCBITaxon:131567",
+ "NCBITaxon:2759",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0086855",
+ "GO:0010468",
+ "UPHENO:0053632",
+ "GO:0050789",
+ "UBERON:0002204",
+ "HP:0001876",
+ "GO:0008152",
+ "UPHENO:0002219",
"UPHENO:0004704",
+ "HP:0001627",
+ "UPHENO:0050126",
+ "UBERON:0002049",
+ "HP:0003220",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "GO:0010556",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "HP:0001939",
+ "UBERON:0001463",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UPHENO:0049904",
+ "UPHENO:0053619",
+ "HP:0012443",
+ "GO:0019222",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "UPHENO:0072359",
+ "GO:0050954",
+ "UPHENO:0076744",
+ "UBERON:0002417",
+ "HP:0025354",
+ "UBERON:0002199",
+ "HP:0003312",
+ "UPHENO:0063722",
+ "UPHENO:0041467",
+ "GO:0048519",
+ "UPHENO:0072414",
+ "UPHENO:0002927",
+ "UBERON:0001130",
+ "UBERON:0011137",
+ "UPHENO:0003038",
+ "UPHENO:0041221",
+ "UBERON:0001075",
+ "UBERON:0015023",
+ "UPHENO:0008743",
+ "UPHENO:0002813",
"HP:0009121",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "UBERON:0002616",
- "HP:0000707",
- "HP:0002011",
- "HP:0000252",
+ "HP:0003468",
+ "UPHENO:0049671",
+ "UPHENO:0002240",
+ "UPHENO:0084420",
+ "UPHENO:0077373",
+ "UBERON:0005944",
+ "UPHENO:0080187",
+ "UBERON:0010913",
+ "UPHENO:0046707",
+ "UPHENO:0080300",
+ "UPHENO:0068971",
+ "UPHENO:0054374",
+ "UBERON:0001009",
+ "UPHENO:0008709",
+ "UPHENO:0054304",
+ "UPHENO:0003413",
+ "UPHENO:0054315",
+ "UPHENO:0041226",
+ "UPHENO:0074584",
+ "HP:0004323",
+ "UPHENO:0077399",
+ "UPHENO:0082794",
+ "UPHENO:0010799",
+ "UBERON:0000014",
+ "UPHENO:0082761",
+ "UBERON:0010688",
+ "UPHENO:0010808",
+ "UPHENO:3000007",
"UBERON:0011138",
- "UBERON:0011137",
- "UBERON:0000481",
- "UPHENO:0004521",
- "NCBITaxon:33154",
- "HP:0100547",
- "OBI:0100026",
- "UBERON:0001016",
+ "UPHENO:0087907",
+ "UPHENO:0008816",
+ "UPHENO:0003812",
+ "UPHENO:0075804",
+ "UBERON:0002616",
+ "UPHENO:0004757",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0075997",
+ "UPHENO:0003410",
+ "UPHENO:0049990",
+ "GO:0006281",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UBERON:0001690",
+ "UPHENO:0069161",
+ "UPHENO:0053456",
+ "UBERON:0015024",
+ "UPHENO:0002403",
"UPHENO:0004802",
- "UBERON:0001890",
- "HP:0000240",
- "UPHENO:0049904",
- "HP:0001939",
- "GO:0008152",
- "GO:0042592",
- "UPHENO:0088170",
- "CL:0000764",
+ "HP:0000815",
+ "UPHENO:0087924",
+ "UBERON:0002082",
+ "HP:0100887",
+ "UPHENO:0046741",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UPHENO:0002832",
+ "UPHENO:0005016",
+ "UPHENO:0003020",
+ "HP:0001626",
+ "UBERON:0015063",
+ "UPHENO:0086589",
+ "CL:0002422",
+ "UPHENO:0069064",
+ "UBERON:0011250",
+ "UPHENO:0011825",
+ "HP:0010974",
+ "UPHENO:0009146",
+ "HP:0009777",
+ "GO:0003008",
+ "UPHENO:0009382",
+ "UBERON:0000073",
+ "HP:0001877",
"UPHENO:0088162",
- "UPHENO:0080200",
- "UBERON:0010707",
- "UPHENO:0002586",
- "UPHENO:0002983",
+ "UPHENO:0050068",
+ "UPHENO:0053563",
+ "HP:0000104",
+ "HP:0001896",
+ "HP:0000152",
+ "CL:0000558",
+ "GO:0022403",
+ "UPHENO:0008475",
+ "UPHENO:0088148",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "HP:0011940",
+ "UPHENO:0049966",
+ "MPATH:1000",
+ "CL:0000458",
+ "UPHENO:0000543",
+ "UBERON:0000047",
+ "GO:0008150",
+ "UPHENO:0075219",
+ "UPHENO:0005597",
+ "UPHENO:0049587",
+ "HP:0000286",
+ "UPHENO:0041465",
+ "UPHENO:0076805",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "GO:0040007",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0050106",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UPHENO:0005573",
+ "UPHENO:0052778",
+ "UPHENO:0005596",
+ "UPHENO:0049874",
+ "HP:0000929",
+ "UBERON:0010314",
+ "GO:0007049",
+ "UPHENO:0052160",
+ "UPHENO:0049775",
+ "HP:0001511",
+ "HP:0001507",
+ "UBERON:0015025",
+ "NCBITaxon:33154",
+ "UBERON:0008001",
+ "HP:0006496",
+ "UPHENO:0085263",
+ "HP:0001873",
+ "HP:0011873",
+ "UPHENO:0081424",
+ "UPHENO:0086173",
+ "CL:0000151",
+ "UBERON:0016491",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0002090",
+ "UBERON:0006717",
+ "HP:0001518",
+ "UPHENO:0088186",
+ "UPHENO:0002708",
+ "UBERON:0005451",
"UBERON:0010323",
- "UBERON:0002529",
- "UBERON:0001460",
- "UBERON:0010740",
- "UBERON:0004710",
- "UPHENO:0003065",
- "UPHENO:0002559",
- "UPHENO:0003227",
+ "UPHENO:0087518",
+ "HP:0011805",
+ "HP:0001872",
+ "UBERON:0019221",
+ "UPHENO:0001360",
+ "BFO:0000141",
+ "UBERON:0004770",
+ "HP:0001167",
+ "UPHENO:0050065",
+ "UPHENO:0049642",
+ "UBERON:5001463",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0006048",
+ "UBERON:0019231",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "MPATH:0",
+ "UPHENO:0002905",
+ "UBERON:0001630",
+ "UPHENO:0004459",
+ "UPHENO:0012274",
+ "HP:0011927",
+ "UBERON:0012354",
+ "GO:0048856",
+ "UPHENO:0026600",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UPHENO:0088176",
+ "HP:0001510",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "HP:0000957",
+ "UBERON:5102544",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "GO:0009890",
+ "UPHENO:0046445",
+ "UPHENO:0087006",
+ "UPHENO:0069236",
+ "UPHENO:0012440",
+ "UBERON:5002389",
+ "UBERON:0002544",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0001713",
+ "UPHENO:0046528",
+ "HP:0006265",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "UPHENO:0010795",
+ "CL:0000329",
+ "UPHENO:0012312",
+ "HP:0011844",
+ "NCBITaxon:1",
+ "GO:0031052",
+ "UPHENO:0069327",
+ "UPHENO:0041381",
+ "UPHENO:0002733",
+ "UBERON:0002398",
+ "UPHENO:0069684",
+ "HP:0000234",
+ "UPHENO:0002928",
+ "HP:0001875",
+ "HP:0000325",
+ "GO:0010629",
+ "UBERON:0000465",
+ "HP:0000271",
+ "UPHENO:0046411",
+ "HP:0045060",
+ "UBERON:0007811",
+ "UPHENO:0000541",
+ "UPHENO:0050620",
+ "UPHENO:0003022",
+ "UPHENO:0046426",
+ "UPHENO:0002378",
+ "UPHENO:0002844",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UBERON:0000062",
+ "UBERON:0012358",
+ "HP:0000980",
+ "UPHENO:0069674",
+ "UPHENO:0010763",
+ "UBERON:0001456",
+ "UBERON:0000033",
+ "UPHENO:0005518",
+ "HP:0001671",
+ "UPHENO:0026239",
+ "UBERON:0001444",
+ "HP:0007364",
+ "HP:0009380",
+ "HP:0040012",
+ "UBERON:0000061",
+ "CL:0000233",
"UBERON:0000075",
- "UPHENO:0002945",
- "UBERON:0002101",
- "UBERON:0019221",
- "UBERON:0005944",
- "UPHENO:0084763",
- "HP:0001909",
- "UBERON:0012141",
- "UPHENO:0003799",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0040068",
- "UPHENO:0003005",
+ "CL:0001035",
+ "GO:0043473",
+ "UPHENO:0008827",
+ "UPHENO:0009010",
+ "CL:0000232",
+ "CL:0000457",
+ "UBERON:0002371",
+ "UBERON:0015021",
+ "UPHENO:0080200",
+ "CL:0000225",
+ "BFO:0000003",
+ "HP:0012145",
+ "UPHENO:0049757",
+ "CL:0000764",
+ "GO:0010605",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0053644",
+ "UPHENO:0002523",
+ "HP:0012639",
+ "HP:0000811",
+ "UBERON:0000079",
+ "HP:0009381",
+ "UPHENO:0053647",
+ "UBERON:0004249",
+ "HP:0010461",
+ "UPHENO:0066945",
+ "UPHENO:0002597",
+ "UPHENO:0003055",
+ "UPHENO:0046698",
+ "UBERON:0001015",
+ "UPHENO:0053561",
+ "UBERON:0001032",
+ "UPHENO:0002940",
+ "UPHENO:0053572",
+ "HP:0011017",
+ "HP:0003221",
+ "HP:0000028",
+ "UBERON:0000991",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UPHENO:0069266",
+ "UPHENO:0053566",
+ "UBERON:0004765",
+ "UPHENO:0002685",
+ "UBERON:0010712",
+ "GO:0031323",
+ "HP:0002817",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UPHENO:0026317",
+ "UPHENO:0026227",
"UPHENO:0002593",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0080351",
+ "UPHENO:0025883",
+ "HP:0004325",
+ "UPHENO:0002648",
+ "UPHENO:0025587",
+ "UPHENO:0002581",
+ "UPHENO:0002945",
+ "UBERON:0002384",
+ "UPHENO:0076799",
+ "UBERON:0001084",
+ "UPHENO:0025176",
+ "UPHENO:0046740",
+ "UPHENO:0026640",
+ "HP:0000365",
+ "UPHENO:0087472",
+ "BFO:0000040",
+ "UPHENO:0002785",
+ "UPHENO:0001303",
+ "HP:0001874",
+ "HP:0001249",
+ "HP:0002973",
+ "UPHENO:0005097",
+ "HP:0006501",
+ "UPHENO:0069254",
+ "UPHENO:0002751",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002964",
+ "HP:0000078",
+ "UPHENO:0002659",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UPHENO:0002816",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050025",
+ "UPHENO:0066925",
+ "HP:0011842",
+ "HP:0040195",
+ "UPHENO:0002595",
+ "UPHENO:0026098",
+ "HP:0009815",
+ "UPHENO:0075195",
+ "UPHENO:0072345",
+ "HP:0000118",
+ "UBERON:0002529",
+ "UBERON:0005090",
+ "UPHENO:0026312",
+ "UPHENO:0025507",
+ "UPHENO:0008487",
+ "UPHENO:0025811",
+ "UPHENO:0002803",
+ "UPHENO:0025547",
+ "UPHENO:0008640",
+ "UPHENO:0002944",
+ "UBERON:0002102",
+ "GO:0065007",
+ "UBERON:0010741",
"UPHENO:0002736",
- "HP:0001167",
- "UBERON:0010538",
- "UBERON:0006058",
- "UBERON:5006048",
- "UPHENO:0003095",
+ "UPHENO:0009341",
+ "HP:0005927",
+ "HP:0002715",
+ "UBERON:0010363",
+ "UPHENO:0011573",
+ "HP:0001574",
"UBERON:0000026",
- "UPHENO:0003069",
- "UPHENO:0002632",
+ "HP:0000568",
+ "UPHENO:0085302",
+ "HP:0006503",
+ "UPHENO:0026096",
+ "GO:0032502",
+ "UPHENO:0046505",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0072415",
+ "UPHENO:0077348",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0002738",
+ "HP:0000035",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "HP:0000924",
+ "UPHENO:0026808",
"UPHENO:0004909",
- "UPHENO:0003812",
- "UPHENO:0002746",
- "UBERON:0010712",
- "HP:0002977",
+ "UBERON:0001008",
+ "UPHENO:0076695",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "HP:0005922",
+ "UPHENO:0050019",
+ "UPHENO:0011563",
+ "UBERON:0000970",
+ "UBERON:0005156",
+ "UPHENO:0026181",
+ "MPATH:119",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0026183",
+ "UPHENO:0018390",
+ "UPHENO:0003799",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0026643",
+ "UPHENO:0069062",
+ "UPHENO:0009399",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0087349",
+ "UPHENO:0025544",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0050063",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0033596",
+ "UBERON:0000153",
+ "UBERON:0001434",
+ "UPHENO:0041629",
+ "UPHENO:0053559",
+ "UPHENO:0053633",
+ "UPHENO:0011548",
+ "UPHENO:0015277",
+ "CL:0000763",
+ "UPHENO:0026073",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "HP:0002664",
+ "UPHENO:0009356",
+ "UPHENO:0080209",
+ "UPHENO:0026097",
+ "UPHENO:0005058",
+ "UPHENO:3000000",
+ "UPHENO:0086956",
+ "UPHENO:0076718",
+ "HP:0002818",
+ "UBERON:0002513",
+ "HP:0004312",
+ "UBERON:0003133",
+ "UBERON:0003103",
+ "UPHENO:0026308",
"RO:0002577",
- "HP:0001155",
- "UPHENO:0087006",
- "UBERON:0002428",
- "UPHENO:0002648",
- "UPHENO:0002896",
+ "UBERON:0010740",
+ "HP:0000252",
+ "UPHENO:0050007",
+ "UBERON:0004053",
+ "UBERON:0004122",
+ "UBERON:0002101",
+ "UPHENO:0033565",
+ "UBERON:0002113",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UPHENO:0082875",
+ "HP:0001999",
+ "UBERON:0003135",
+ "UPHENO:0026074",
+ "UPHENO:0003049",
+ "UPHENO:0025553",
+ "UPHENO:0026811",
+ "UPHENO:0026506",
+ "HP:0012373",
+ "UPHENO:0026504",
+ "UPHENO:0076779",
+ "UPHENO:0002594",
+ "UBERON:0002386",
+ "UPHENO:0075787",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0010703",
+ "HP:0000549",
+ "UPHENO:0002525",
+ "UPHENO:0081511",
"UPHENO:0002870",
- "UPHENO:0002708",
- "UBERON:0012140",
+ "UBERON:0010707",
+ "UPHENO:0002656",
+ "UPHENO:0002554",
+ "UPHENO:0049622",
+ "HP:0009778",
+ "UPHENO:0080325",
+ "UPHENO:0076739",
+ "UPHENO:0008865",
+ "UPHENO:0002559",
+ "HP:0003974",
+ "UPHENO:0002682",
+ "UBERON:0001436",
+ "UBERON:0012475",
+ "HP:0040072",
+ "UPHENO:0084763",
+ "UBERON:0007272",
+ "UPHENO:0049743",
+ "UPHENO:0076723",
+ "UPHENO:0009344",
+ "UPHENO:0008604",
+ "UPHENO:0011568",
+ "HP:0100547",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0005025",
+ "UBERON:0012357",
+ "UBERON:0003607",
+ "UBERON:0004708",
+ "HP:0009142",
+ "UBERON:0013701",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
+ "UPHENO:0076776",
+ "GO:0009790",
+ "UBERON:0010758",
+ "UPHENO:0003432",
+ "UPHENO:0076707",
+ "UPHENO:0033572",
+ "UBERON:0015212",
+ "UBERON:0001712",
+ "UBERON:5002544",
+ "UPHENO:0025187",
+ "UBERON:5102389",
+ "UPHENO:0002967",
+ "UBERON:0004905",
+ "UPHENO:0002861",
+ "HP:0001892",
+ "UPHENO:0011739",
+ "HP:0000001",
+ "UPHENO:0009337",
+ "UPHENO:0011559",
+ "GO:0007605",
+ "UPHENO:0079876",
+ "UPHENO:0009295",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UBERON:0005177",
+ "UPHENO:0053610",
+ "UBERON:0002471",
+ "UBERON:0003221",
+ "UPHENO:0063794",
+ "UBERON:0001474",
"UBERON:0010912",
- "UPHENO:0084448",
- "CL:0000151",
- "UPHENO:0074575",
- "UPHENO:0085302",
- "UPHENO:0088166",
- "BFO:0000003",
- "UBERON:0000467",
- "HP:0011017",
- "BFO:0000015",
- "GO:0008150",
- "UPHENO:0000541",
- "HP:0012639",
- "CL:0000775",
- "HP:0001507",
- "UPHENO:0049874",
- "UPHENO:0002553",
- "UPHENO:0076799",
- "UBERON:0001015",
- "HP:0010974",
- "UBERON:0002405",
- "HP:0033127",
- "UBERON:0002097",
- "UBERON:5001463",
- "UPHENO:0003415",
+ "UPHENO:0086866",
+ "HP:0011446",
+ "GO:0051716",
+ "HP:0011121",
+ "UBERON:0005897",
+ "UPHENO:0002600",
+ "UPHENO:0025961",
+ "GO:0050877",
+ "UBERON:0000475",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "UPHENO:0033590",
+ "HP:0012372",
"UPHENO:0063787",
- "UBERON:0000062",
- "UPHENO:0004064",
- "HP:0001877",
+ "UBERON:0000473",
+ "UPHENO:0079872",
+ "CL:0002242",
+ "UBERON:0009569",
+ "UPHENO:0011536",
+ "UPHENO:0075902",
+ "UPHENO:0004595",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0076703",
+ "UPHENO:0026806",
+ "UPHENO:0003093",
+ "UPHENO:0002926",
+ "NBO:0000313",
+ "UBERON:0001016",
+ "UBERON:0001460",
+ "UBERON:0000481",
+ "CL:0000766",
+ "HP:0000925",
"HP:0007400",
- "HP:0002060",
- "UBERON:0001062",
+ "UBERON:0005172",
+ "UPHENO:0002536",
+ "UPHENO:0025845",
"UPHENO:0005214",
- "UPHENO:0003410",
- "HP:0000118",
- "UBERON:0006048",
- "HP:0011121",
- "UPHENO:0081581",
- "UPHENO:0002944",
- "UPHENO:0002910",
- "HP:0001871",
- "CL:0000255",
- "CL:0000738",
- "UPHENO:0001001",
- "HP:0010987",
+ "UBERON:0034923",
+ "UPHENO:0009209",
+ "HP:0009998",
+ "UBERON:0004120",
+ "UBERON:0002091",
+ "UPHENO:0008548",
+ "UBERON:0015228",
+ "UPHENO:0011566",
+ "UPHENO:0002646",
+ "UPHENO:0087427",
"UBERON:0000383",
- "UPHENO:0088176",
- "UPHENO:0050008",
- "HP:0000271",
+ "UPHENO:0001072",
+ "HP:0000079",
+ "UPHENO:0025497",
+ "UBERON:0002412",
+ "UPHENO:0012308",
+ "UPHENO:0025631",
+ "UBERON:0001440",
"UPHENO:0002963",
- "UBERON:0001017",
- "HP:0001903",
- "UBERON:0034925",
- "UBERON:0002398",
- "UPHENO:0002568",
- "UPHENO:0085344",
- "UBERON:0000479",
- "UPHENO:0086635",
- "UPHENO:0086172",
- "UPHENO:0004621",
- "UPHENO:0003004",
- "UPHENO:0077418",
- "HP:0011793",
- "UPHENO:0076703",
- "HP:0001911",
- "UPHENO:0049587",
- "UPHENO:0076675",
- "UPHENO:0075804",
- "CL:0000232",
- "UBERON:0002513",
- "GO:0040007",
- "UPHENO:0002948",
- "UPHENO:0000543",
- "UBERON:0034923",
- "HP:0011991",
- "UPHENO:0074584",
- "UBERON:0000019",
- "HP:0001874",
- "UPHENO:0004459",
- "HP:0007364",
- "CL:0000233",
- "UBERON:0001893",
- "UPHENO:0079876",
- "UBERON:0000061",
- "CL:0000766",
- "UPHENO:0085371",
- "CL:0000000",
- "UPHENO:0077373",
- "BFO:0000004",
- "HP:0004377",
- "HP:0000152",
- "UPHENO:0086176",
- "BFO:0000002",
- "UBERON:0002090",
- "UBERON:0000047",
- "CL:0000225",
- "CL:0000094",
+ "UBERON:0011823",
+ "UPHENO:0026630",
+ "UBERON:0011582",
"UPHENO:0002530",
- "CL:0000988",
- "UPHENO:0002525",
- "UPHENO:0076692",
- "UPHENO:0085354",
- "UPHENO:0076805",
+ "UPHENO:0002969",
+ "UPHENO:0046552",
+ "UBERON:0005173",
+ "UBERON:0002094",
+ "UBERON:0013702",
+ "HP:0032309",
+ "PR:000050567",
"UPHENO:0086019",
- "CL:0000763",
- "UBERON:0002389",
- "HP:0005561",
- "UBERON:0004765",
- "CL:0000457",
- "UPHENO:0086700",
- "HP:0001881",
- "UPHENO:0002554",
- "UPHENO:0085330",
- "UBERON:0010363",
- "UBERON:0002470",
- "CL:0002092",
- "UPHENO:0085356",
- "HP:0011873",
- "UPHENO:0005058",
- "CL:0002242",
- "UBERON:0001474",
- "UBERON:0010000",
- "UPHENO:0011498",
- "UBERON:0002371",
- "UPHENO:0002764",
- "UPHENO:0086589",
- "UBERON:0000475",
- "HP:0002715",
- "UPHENO:0077399",
- "HP:0032251",
- "HP:0012733",
- "UPHENO:0063794",
- "CL:0000219",
- "UBERON:0007811",
- "UPHENO:0002976",
- "UPHENO:0080010",
- "HP:0040195",
- "UPHENO:0002816",
- "UBERON:0000468",
+ "UPHENO:0046750",
+ "UPHENO:0011749",
+ "UPHENO:0027017",
+ "UPHENO:0002782",
+ "UPHENO:0003084",
+ "UPHENO:0008545",
+ "HP:0000077",
+ "UPHENO:0086635",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0026309",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "UPHENO:0011931",
+ "UPHENO:0002586",
+ "UBERON:0002495",
+ "UPHENO:0085354",
+ "HP:0009942",
+ "UPHENO:0026146",
+ "UPHENO:0003088",
+ "UBERON:0001017",
+ "UPHENO:3000004",
+ "UPHENO:0002385",
+ "UBERON:8450002",
"NCBITaxon:33208",
- "PATO:0000001",
- "HP:0000957",
- "HP:0002664",
- "UBERON:0002091",
- "UBERON:0004120",
- "UPHENO:0011536",
- "HP:0020047",
- "NCBITaxon:1",
- "HP:0001000",
- "HP:0012372",
- "UPHENO:0076791",
- "HP:0032309",
- "UPHENO:0077348",
- "HP:0000951",
- "UPHENO:0054957",
- "HP:0003220",
- "HP:0002817",
- "HP:0001872",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "UBERON:0010543",
+ "UPHENO:0081451",
+ "UPHENO:0077418",
+ "UPHENO:0003056",
+ "HP:0008678",
+ "UPHENO:0041821",
+ "UPHENO:0003065",
+ "UPHENO:0080662",
+ "UPHENO:0003094",
+ "GO:0051325",
+ "UPHENO:0049699",
+ "UPHENO:0076941",
+ "UPHENO:0025808",
+ "HP:0032251",
+ "UPHENO:0076754",
+ "UPHENO:0009391",
+ "HP:0010935",
+ "GO:0009987",
+ "UPHENO:0004386",
+ "UPHENO:0009020",
+ "UPHENO:0085356",
+ "UPHENO:0002909",
+ "UPHENO:0002635",
"UPHENO:0005092",
- "UPHENO:0003049",
- "UPHENO:0003020",
- "HP:0011297",
- "UPHENO:0077391",
- "HP:0040064",
- "HP:0005922",
- "UBERON:0015203",
- "UPHENO:0063722",
- "UBERON:0000465",
- "UBERON:0002204",
- "HP:0007565",
- "UBERON:0005451",
- "UPHENO:0002964",
- "CL:0001035",
- "UPHENO:0087518",
- "UBERON:0001434",
- "NCBITaxon:2759",
- "HP:0000924",
- "UPHENO:0069161",
- "HP:0001510",
- "UBERON:0002390",
- "BFO:0000040",
- "UPHENO:0002861",
- "UBERON:0002199",
- "UPHENO:0011531",
- "HP:0000001",
- "UBERON:0012354",
- "UPHENO:0003432",
- "UPHENO:0001003",
- "UBERON:0011216",
- "HP:0001875",
- "CL:0000458",
- "UPHENO:0004757",
- "UPHENO:0086173",
- "BFO:0000020",
- "UPHENO:0002866",
- "HP:0001873",
- "UPHENO:0080377",
- "UBERON:0010314",
- "HP:0002813",
- "GO:0043473",
- "UBERON:0002193",
- "HP:0001574",
- "HP:0000929",
- "UBERON:0004121",
- "UPHENO:0076702",
- "UPHENO:0002526",
- "UBERON:0000020",
+ "HP:0012210",
+ "UPHENO:0003227",
+ "UPHENO:0004507",
"UBERON:0004288",
- "UPHENO:0002949",
- "UPHENO:0076740",
- "UPHENO:0080662",
- "UPHENO:0003514",
- "HP:0011355",
- "UBERON:0011249",
- "UPHENO:0076739",
- "HP:0012130",
- "HP:0000953",
- "UPHENO:0003811",
- "UPHENO:0006894",
- "UPHENO:0002548",
+ "UPHENO:0002352",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0002405",
+ "UPHENO:0076727",
+ "HP:0001629",
"UBERON:0004088",
- "UPHENO:0002635",
- "HP:0001034",
- "UPHENO:0004494",
- "UBERON:0019231",
- "UPHENO:0002926",
- "UPHENO:0001002",
- "UBERON:0004456",
- "UPHENO:0002650",
- "UBERON:0013702",
- "UPHENO:0080209",
- "CL:0000081",
- "UPHENO:0087123",
- "UBERON:0000033",
- "UPHENO:0054970",
- "UPHENO:0005097",
- "HP:0000234",
- "HP:0008056",
- "UBERON:0001444",
- "UBERON:0000970",
- "UPHENO:0068914",
+ "HP:0011729",
+ "UPHENO:0086172",
+ "UPHENO:0002948",
+ "HP:0004742",
+ "UPHENO:0080010",
+ "UPHENO:0085330",
+ "GO:0010558",
+ "HP:0020073",
+ "UPHENO:0069605",
+ "UBERON:0003037",
+ "UBERON:0002100",
+ "UPHENO:0080377",
+ "UPHENO:0002632",
+ "UPHENO:0085371",
"HP:0011893",
+ "HP:0002813",
+ "UPHENO:0002976",
+ "UBERON:0034925",
+ "UPHENO:0009011",
+ "UPHENO:0008593",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "CL:0000219",
"UPHENO:0086633",
- "UPHENO:0003001",
- "UBERON:0002104",
- "UBERON:0001463",
- "UPHENO:0080079",
- "UBERON:0004375",
+ "UPHENO:0025585",
+ "UPHENO:0008668",
+ "UPHENO:0072255",
"BFO:0000001",
- "UBERON:0010230",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0086176",
+ "UBERON:0004176",
+ "UPHENO:0080126",
+ "HP:0000032",
+ "CL:0000775",
+ "UPHENO:0046483",
+ "UPHENO:0069007",
+ "UBERON:0002416",
+ "CL:0000081",
+ "UBERON:0004710",
+ "UPHENO:0025211",
+ "UPHENO:0076675",
+ "HP:0011991",
+ "UPHENO:0087123",
+ "HP:0001172",
+ "UBERON:0002390",
+ "HP:0000315",
+ "HP:0011875",
+ "UPHENO:0088166",
+ "HP:0001881",
+ "NCBITaxon:6072",
+ "UPHENO:0005433",
"UPHENO:0086016",
- "UPHENO:0075219",
- "HP:0000478",
- "HP:0000568",
- "UPHENO:0002536",
- "UBERON:0000153",
- "UPHENO:0002733",
- "UBERON:0011676",
- "UBERON:0015061",
- "UBERON:0013701",
- "UPHENO:0075195",
- "UBERON:0001456",
- "UBERON:0000955",
- "UPHENO:3000007",
+ "UPHENO:0005512",
+ "UPHENO:0025882",
+ "UBERON:0015204",
+ "HP:0033127",
+ "UPHENO:0076740",
+ "UPHENO:0002830",
+ "UPHENO:0085344",
+ "HP:0001911",
+ "UPHENO:0006894",
+ "CL:0000738",
+ "UPHENO:0002949",
+ "UPHENO:0011531",
+ "HP:0000496",
+ "UBERON:0002470",
+ "UBERON:0008962",
+ "HP:0010987",
+ "UPHENO:0009163",
+ "UPHENO:0002754",
+ "UPHENO:0003005",
+ "UPHENO:0011533",
+ "GO:0042592",
"UBERON:0004381",
- "UBERON:0015212",
- "UBERON:0010758",
- "UPHENO:0087472",
- "UPHENO:0069327",
- "HP:0100887",
- "UPHENO:3000000",
- "UPHENO:0084761",
- "UPHENO:0087924",
- "UPHENO:0002844",
- "HP:0011875",
- "UPHENO:0002928",
- "UPHENO:0003082",
- "UPHENO:0087907",
- "GO:0005623",
- "HP:0002863",
- "UPHENO:0003025",
- "UPHENO:0069064",
- "UPHENO:0069523",
- "UPHENO:0069062",
- "HP:0011844",
- "HP:0025354",
- "UBERON:0001032",
- "UPHENO:0068971",
- "UPHENO:0075997",
- "UPHENO:3000003",
- "UPHENO:0002905",
- "HP:0011842",
- "UPHENO:0069266",
- "UPHENO:0002731",
- "CL:0000329",
- "UPHENO:0002782",
+ "UPHENO:0053330",
+ "CL:0000255",
+ "UBERON:0008785",
+ "UPHENO:0001002",
+ "UPHENO:0011498",
+ "UPHENO:0009129",
+ "CL:0000094",
+ "UBERON:0011216",
+ "UPHENO:0053571",
+ "UPHENO:0011572",
+ "HP:0008422",
+ "UBERON:0000990",
+ "UPHENO:0003415",
+ "UPHENO:0077391",
+ "UPHENO:0026108",
+ "UPHENO:0072266",
+ "UPHENO:0026486",
"UBERON:0010708",
- "UPHENO:0076727",
- "UBERON:0005881",
- "UBERON:0002102",
- "UBERON:0004708",
- "HP:0000315",
- "UBERON:0008785",
- "UBERON:0012139",
- "UBERON:5002389",
- "UPHENO:0076724",
- "UPHENO:0076723",
- "UPHENO:0004476",
- "HP:0025461",
- "UPHENO:0002600",
- "UBERON:5002544",
- "UBERON:0011582",
- "UBERON:0002544",
- "UBERON:0002416",
- "HP:0001172"
+ "HP:0000492",
+ "UPHENO:0001001",
+ "UBERON:0001442",
+ "CL:0000000",
+ "UPHENO:0050784",
+ "UPHENO:0003514",
+ "GO:0007275",
+ "HP:0011276",
+ "UBERON:0000489",
+ "UPHENO:0003811",
+ "UPHENO:0025776",
+ "UBERON:0006058",
+ "BFO:0000002",
+ "UPHENO:0076692",
+ "UPHENO:0086854",
+ "UBERON:0000468",
+ "UPHENO:0002548",
+ "UPHENO:0076791",
+ "UPHENO:0002568",
+ "UBERON:0001062",
+ "UBERON:0003101",
+ "UPHENO:0025652",
+ "UPHENO:0041075",
+ "UBERON:0011143",
+ "UPHENO:0025508",
+ "UPHENO:0011770",
+ "HP:0100542",
+ "UPHENO:0041838",
+ "UBERON:5006048",
+ "UPHENO:0053580",
+ "UBERON:0004121",
+ "UPHENO:0002880",
+ "UPHENO:0002910",
+ "HP:0000818",
+ "HP:0001017",
+ "CL:0000988",
+ "UPHENO:0002526",
+ "HP:0000478",
+ "HP:0000951",
+ "UPHENO:0002678",
+ "BFO:0000004",
+ "UPHENO:0026507",
+ "UPHENO:0004064",
+ "GO:0050896",
+ "UPHENO:0002731",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UPHENO:0010850",
+ "UPHENO:0026095",
+ "HP:0009115",
+ "MPATH:120",
+ "UBERON:0010000",
+ "UBERON:0000467"
],
"has_phenotype_closure_label": [
- "nervous system",
+ "skin of face",
+ "head or neck skin",
+ "zone of organ",
+ "ocular adnexa phenotype",
+ "skin of head morphology phenotype",
+ "increased size of the material anatomical entity",
+ "increased size of the zone of skin",
+ "eyelid phenotype",
+ "Abnormality of the ocular adnexa",
+ "increased size of the zone of organ",
+ "zone of skin morphology phenotype",
+ "increased length of the organ part",
+ "increased length of the skin of eyelid",
+ "skin of face morphology phenotype",
+ "Abnormal eyelid morphology",
+ "increased length of the skin of head",
+ "ocular adnexa",
+ "increased length of the anatomical entity",
+ "response to stress phenotype",
+ "zone of skin",
+ "macromolecule metabolic process",
+ "cellular response to stress",
+ "response to stress",
+ "cellular response to stress phenotype",
+ "DNA metabolic process phenotype",
+ "cellular response to stimulus phenotype",
+ "macromolecule metabolic process phenotype",
+ "DNA repair",
+ "increased size of the multicellular anatomical structure",
+ "DNA damage response",
+ "nucleobase-containing compound metabolic process",
+ "Abnormality of the cell cycle",
+ "G2 phase",
+ "Prolonged G2 phase of cell cycle",
+ "cell cycle phase",
+ "cell cycle",
+ "simple eye physiology phenotype",
+ "immaterial entity",
+ "Abnormal eye physiology",
+ "behavior",
+ "camera-type eye physiology phenotype",
+ "behavior phenotype",
+ "behavior process phenotype",
+ "Abnormality of eye movement",
+ "eye physiology phenotype",
+ "Strabismus",
+ "lateral structure physiology phenotype",
+ "Hypopigmented macule",
+ "DNA damage response phenotype",
+ "Abnormal ear physiology",
+ "Abnormality of the ear",
+ "nervous system process phenotype",
+ "structure with developmental contribution from neural crest physiology phenotype",
+ "ear",
+ "decreased sensory perception",
+ "decreased sensory perception of mechanical stimulus",
+ "decreased nervous system process",
+ "sensory perception of mechanical stimulus phenotype",
+ "decreased qualitatively sensory perception",
+ "sensory perception of sound phenotype",
+ "decreased sensory perception of sound",
+ "ear phenotype",
+ "sensory perception of mechanical stimulus",
+ "Hearing impairment",
+ "increased size of the ectoderm-derived structure",
+ "decreased qualitatively sensory perception of mechanical stimulus",
+ "decreased height of the multicellular organism",
+ "decreased height of the anatomical entity",
+ "decreased size of the multicellular organism",
+ "tendon",
+ "regular connective tissue",
+ "decreased length of dense regular connective tissue",
+ "articulation",
+ "decreased size of the connective tissue",
+ "dense connective tissue phenotype",
+ "Abnormal skeletal muscle morphology",
+ "muscle organ",
+ "cell cycle phenotype",
+ "vestibulo-auditory system phenotype",
+ "Abnormal musculoskeletal physiology",
+ "response to stimulus",
+ "muscle structure",
+ "muscle organ morphology phenotype",
+ "Joint contracture",
+ "decreased size of the tissue",
+ "decreased length of tissue",
+ "skeletal joint",
+ "Abnormal joint physiology",
+ "tissue phenotype",
+ "dense regular connective tissue phenotype",
+ "Abnormality of joint mobility",
+ "nucleobase-containing compound metabolic process phenotype",
+ "Abnormality of connective tissue",
+ "localised trunk region element",
+ "localised cavitated compound organ",
+ "localised lateral structure",
+ "eyelid morphology phenotype",
+ "Ectopic kidney",
+ "increased length of the multicellular anatomical structure",
+ "localised compound organ",
+ "body part movement",
+ "localised abdomen element",
+ "localised abdominal segment element",
+ "U-shaped anatomical entity",
+ "3-D shape anatomical entity",
+ "Abnormal localization of kidney",
+ "concave 3-D shape anatomical entity",
+ "Abnormal renal collecting system morphology",
+ "renal collecting system",
+ "neoplasm phenotype",
+ "interventricular septum",
+ "incomplete closing of the interventricular septum",
+ "cardiac ventricle phenotype",
+ "opening of the anatomical entity",
+ "Abnormal ventricular septum morphology",
+ "incomplete closing of the anatomical entity",
+ "thoracic segment of trunk",
+ "cardiac ventricle morphology phenotype",
+ "organ part",
+ "Ventricular septal defect",
+ "material anatomical entity morphology in the heart phenotype",
+ "Abnormal cardiovascular system morphology",
+ "cardiac chamber",
+ "heart",
+ "heart morphology phenotype",
+ "cardiac chamber phenotype",
+ "anatomical structure morphology in the heart phenotype",
+ "increased length of the skin of face",
+ "thoracic cavity element",
+ "Abnormal cardiac ventricle morphology",
+ "circulatory organ",
+ "viscus",
+ "cardiovascular system morphology phenotype",
+ "thoracic cavity element phenotype",
+ "incomplete closing of the material anatomical entity",
+ "interventricular septum morphology phenotype",
+ "mesoderm-derived structure morphology in the heart phenotype",
+ "anatomical entity morphology in the heart phenotype",
+ "glandular system",
+ "decreased functionality of the anatomical structure",
+ "decreased functionality of the material anatomical entity",
+ "Puberty and gonadal disorders",
+ "decreased functionality of the reproductive structure",
+ "Abnormality of the endocrine system",
+ "endocrine system phenotype",
+ "ear physiology phenotype",
+ "Duplicated collecting system",
+ "Hypergonadotropic hypogonadism",
+ "anatomical entity dysfunction in independent continuant",
+ "Hypogonadism",
+ "Localized skin lesion",
+ "Cafe-au-lait spot",
+ "Hypermelanotic macule",
+ "Macule",
+ "Irregular hyperpigmentation",
+ "Anemia",
+ "Hyperpigmentation of the skin",
+ "increased length of the anatomical structure",
+ "sensory perception phenotype",
+ "increased pigmentation",
+ "Abnormality of skin pigmentation",
+ "increased qualitatively biological_process",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "vasculature",
+ "Abnormality of the cardiovascular system",
+ "circulatory system",
+ "circulatory disorder",
+ "Abnormal bleeding",
+ "hemorrhage and non-specified extravasation",
+ "Subcutaneous hemorrhage",
+ "Vascular skin abnormality",
+ "Abnormality of the vasculature",
+ "anatomical cluster phenotype",
+ "vascular system",
+ "anatomical cluster",
+ "shape kidney",
+ "pathological entity",
+ "Generalized abnormality of skin",
+ "circulatory system phenotype",
+ "cardiovascular system phenotype",
+ "Bone marrow hypocellularity",
+ "kidney",
+ "manual digit 1 digitopodial skeleton",
+ "Abnormal finger phalanx morphology",
+ "phalanx endochondral element",
+ "biological_process phenotype",
+ "autopod bone",
+ "acropodial skeleton",
+ "dense regular connective tissue",
+ "manual digit digitopodial skeleton",
+ "Duplication of bones involving the upper extremities",
+ "skin of eyelid",
+ "manual digitopodium bone",
+ "phalanx",
+ "pathological anatomical entity",
+ "obsolete protein-containing material entity",
+ "digitopodium bone",
+ "phalanx of manus",
+ "Duplication of hand bones",
+ "Abnormality of mental function",
+ "system process",
+ "multi organ part structure phenotype",
+ "number of anatomical enitites of type reticulocyte phenotype",
+ "cognition",
+ "telencephalon",
"Abnormality of the nervous system",
- "brain morphology phenotype",
+ "cranial skeletal system phenotype",
+ "decreased functionality of the gonad",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "autopod endochondral element",
+ "decreased number of hematopoietic cell",
+ "forebrain morphology phenotype",
+ "aplasia or hypoplasia of telencephalon",
+ "Abnormal cerebral morphology",
+ "forebrain",
+ "organ part phenotype",
+ "absent abdomen element",
+ "central nervous system phenotype",
+ "size of skull phenotype",
+ "decreased functionality of the organ",
+ "Abnormality of skull size",
+ "biological phase",
+ "tendon phenotype",
+ "Abnormal cardiac septum morphology",
+ "skull morphology phenotype",
+ "decreased size of the organ",
+ "Decreased head circumference",
+ "Eumetazoa",
+ "brain",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "digit morphology phenotype",
+ "simple eye",
+ "central nervous system",
+ "cranial skeletal system",
+ "negative regulation of cellular process phenotype",
+ "absent mesoderm-derived structure",
+ "anatomical entity mass phenotype",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "anucleate cell",
+ "Chromosomal breakage induced by crosslinking agents",
+ "programmed DNA elimination",
+ "homeostatic process",
+ "cellular process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "multi organ part structure",
+ "Complete duplication of thumb phalanx",
+ "metabolic process",
+ "regulation of macromolecule biosynthetic process",
+ "Short stature",
+ "skeleton",
+ "manual digit phalanx endochondral element",
+ "Epicanthus",
+ "negative regulation of biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "Abnormality of thumb phalanx",
+ "negative regulation of macromolecule biosynthetic process",
+ "obsolete regulation of cellular biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "DNA repair phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type granulocyte phenotype",
+ "gonad",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "regulation of macromolecule metabolic process",
+ "regulation of biosynthetic process",
+ "negative regulation of metabolic process",
+ "Flexion contracture",
+ "lateral structure phenotype",
+ "Abnormal vertebral morphology",
+ "vertebral element",
+ "endocrine system",
+ "postcranial axial skeleton",
+ "triangular anatomical entity",
+ "location of anatomical entity phenotype",
"Morphological central nervous system abnormality",
- "Eumetazoa",
- "Opisthokonta",
- "skull",
- "cranial skeletal system phenotype",
- "regional part of brain phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "root",
- "forebrain phenotype",
- "Abnormal nervous system morphology",
+ "vertebra morphology phenotype",
+ "gonad physiology phenotype",
+ "increased biological_process in skin of body",
+ "bony vertebral centrum",
+ "Anterior wedging of T12",
+ "absent bone of free limb or fin",
+ "Abnormal axial skeleton morphology",
+ "postcranial axial skeletal system",
+ "vertebral column",
+ "cuneate anatomical entity",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "integument phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "shape of continuant phenotype",
+ "multicellular organism development",
+ "manual digit 1 phalanx endochondral element",
+ "Abnormal platelet count",
+ "Decreased anatomical entity mass",
+ "skin of body morphology phenotype",
+ "Small for gestational age",
+ "regulation of metabolic process phenotype",
+ "Decreased multicellular organism mass",
+ "appendicular skeleton",
+ "anatomical structure mass phenotype",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "decreased anatomical structure mass",
+ "sensory system",
+ "absent bone of free limb or fin in the forelimb",
+ "central nervous system morphology phenotype",
+ "forelimb zeugopod phenotype",
+ "orbital region",
+ "localised reproductive structure",
+ "Microphthalmia",
+ "camera-type eye morphology phenotype",
+ "Abnormality of globe size",
+ "pathological phenotype observation",
+ "Abnormality of the eye",
+ "absent radius bone",
+ "multicellular organismal process",
+ "camera-type eye phenotype",
+ "anatomical structure",
+ "sense organ phenotype",
+ "Abnormality of the orbital region",
+ "manual digit bone",
+ "irregular bone",
+ "craniocervical region morphology phenotype",
+ "Complete duplication of phalanx of hand",
+ "Decreased body weight",
+ "hematopoietic system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "anatomical structure physiology phenotype",
+ "orbital region phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "simple eye phenotype",
+ "Leukemia",
+ "Finger aplasia",
+ "absent digit",
+ "absent organism subdivision in the multicellular organism",
+ "Absent thumb",
+ "erythroid lineage cell morphology phenotype",
+ "heart phenotype",
+ "reticulocyte",
+ "decreased embryo development",
+ "Intrauterine growth retardation",
+ "decreased multicellular organismal process",
+ "process",
+ "incomplete closing of the anatomical structure",
+ "forelimb zeugopod bone",
+ "subdivision of head phenotype",
+ "delayed growth",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "hematopoietic system",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "multicellular organism development phenotype",
+ "bone of appendage girdle complex",
+ "Abnormality of body weight",
+ "Neoplasm",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "developmental process rate phenotype",
+ "growth phenotype",
+ "increased size of the anatomical structure",
+ "multicellular anatomical structure physiology phenotype",
+ "digit",
+ "decreased qualitatively biological_process",
+ "vertebra",
+ "biological_process rate phenotype",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "Thrombocytopenia",
+ "telencephalon phenotype",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "manual digit",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "Abnormality of the upper urinary tract",
+ "decreased length of digit 1 or 5",
+ "Abnormal brain morphology",
+ "aplastic manual digit 1",
+ "autopod region",
+ "programmed DNA elimination by chromosome breakage",
+ "digit 1",
+ "decreased length of connective tissue",
+ "bony vertebral centrum morphology phenotype",
+ "material anatomical entity physiology phenotype",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "manual digit plus metapodial segment",
+ "decreased size of the manual digit",
+ "neutrophil",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "leukocyte morphology phenotype",
+ "negative regulation of metabolic process phenotype",
+ "Neoplasm by anatomical site",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "visual system",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "decreased length of anatomical structure",
+ "decreased length of digit",
+ "autopodial skeleton",
+ "anatomical entity morphology in the manus phenotype",
+ "decreased size of the digit",
+ "absent organism subdivision",
+ "paired limb/fin phenotype",
+ "renal/urinary system phenotype",
+ "platelet phenotype",
+ "decreased length of organism subdivision",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "localised material anatomical entity",
+ "digitopodium region",
+ "Growth delay",
+ "segment of manus",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "anatomical entity length phenotype",
+ "anatomical entity physiology phenotype",
+ "Aplasia/Hypoplasia of the thumb",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "manual digitopodium region",
+ "system",
+ "decreased size of the material anatomical entity in the pectoral complex",
+ "size of anatomical entity phenotype",
+ "absent endochondral bone in the forelimb",
+ "Abnormal finger morphology",
+ "decreased length of tendon",
+ "Bruising susceptibility",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "skeleton of manual digitopodium",
+ "Short finger",
+ "system process phenotype",
+ "digit phenotype",
+ "manus morphology phenotype",
+ "primary circulatory organ phenotype",
+ "decreased anatomical structure development",
+ "Abnormal hand morphology",
+ "cavitated compound organ",
+ "decreased length of manual digit",
+ "material anatomical entity mass phenotype",
+ "digit plus metapodial segment",
+ "skin of body",
+ "decreased length of autopodial extension",
+ "regulation of gene expression phenotype",
+ "increased length of the ectoderm-derived structure",
+ "decreased length of manual digit 1 or 5",
+ "aplasia or hypoplasia of manual digit 1",
+ "decreased number of platelet",
+ "erythrocyte morphology phenotype",
+ "decreased length of digit 1",
+ "decreased length of manual digit 1",
+ "heart plus pericardium",
+ "Abnormality of the face",
+ "craniofacial/craniocervical phenotype",
+ "Triangular face",
+ "absent kidney",
+ "autopodial extension",
+ "Abnormality of head or neck",
+ "craniocervical region phenotype",
+ "Abnormality of the genital system",
+ "craniocervical region",
+ "metabolic process phenotype",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "Abnormal conjugate eye movement",
+ "Abnormal facial shape",
+ "erythroid lineage cell",
+ "vision/eye phenotype",
+ "secretory cell",
+ "increased length of the zone of organ",
+ "anatomical system",
+ "bone marrow",
+ "head",
+ "platelet",
+ "vertebral element phenotype",
+ "tissue",
+ "localised anatomical entity",
+ "Abnormality of the hand",
+ "vestibulo-auditory system",
+ "male reproductive organ phenotype",
+ "renal collecting system phenotype",
+ "localised male reproductive organ",
+ "reproductive system phenotype",
+ "increased length of the head or neck skin",
+ "biogenic amine secreting cell",
+ "male reproductive organ",
+ "localised reproductive organ",
+ "decreased functionality of the anatomical entity",
+ "brain morphology phenotype",
+ "decreased size of the multicellular anatomical structure in the pectoral complex",
+ "mesoderm-derived structure phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "reproductive system",
+ "localised testis",
+ "structure with developmental contribution from neural crest phenotype",
+ "localised organ",
"skull phenotype",
- "regional part of nervous system phenotype",
- "postcranial axial skeleton",
- "forebrain",
- "telencephalon",
- "Abnormality of skull size",
- "nervous system phenotype",
+ "multicellular organismal process phenotype",
+ "testis phenotype",
+ "regular connective tissue phenotype",
+ "Abnormal reproductive system morphology",
+ "Abnormal cellular phenotype",
"Aplasia/Hypoplasia of the cerebrum",
- "Eukaryota",
- "multi-tissue structure phenotype",
- "central nervous system",
- "postcranial axial skeletal system",
- "central nervous system morphology phenotype",
- "Microcephaly",
- "Abnormal cerebral morphology",
- "Leukemia",
- "Abnormal cellular physiology",
- "metabolic process",
- "homeostatic process",
- "erythroid lineage cell morphology phenotype",
- "erythrocyte morphology phenotype",
- "oxygen accumulating cell",
- "brain",
- "erythrocyte",
- "skeleton phenotype",
- "arm phenotype",
- "anatomical collection phenotype",
- "manual digit 1 morphology phenotype",
- "anatomical entity morphology in the manus phenotype",
- "subdivision of skeletal system phenotype",
+ "localised multicellular anatomical structure",
+ "localised anatomical structure",
+ "endochondral bone",
+ "structure with developmental contribution from neural crest",
+ "testis",
+ "number of platelet phenotype",
+ "developmental process phenotype",
+ "cardiovascular system",
+ "male reproductive system",
+ "granulocyte morphology phenotype",
+ "absent lateral structure",
+ "localised gonad",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "Abnormal external genitalia",
+ "Duplication of thumb phalanx",
+ "Short thumb",
+ "Abnormal granulocyte morphology",
+ "limb segment",
+ "decreased size of the autopodial extension",
+ "forelimb long bone",
+ "external male genitalia phenotype",
+ "incomplete closing of the mesoderm-derived structure",
+ "Duplication of phalanx of hand",
+ "Abnormal nervous system morphology",
+ "enucleated reticulocyte",
+ "Short digit",
+ "pectoral appendage",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "Intellectual disability",
+ "Abnormal limb bone morphology",
+ "arm",
+ "subdivision of organism along appendicular axis",
+ "skeletal system morphology phenotype",
+ "pectoral complex",
+ "vasculature phenotype",
+ "aplasia or hypoplasia of radius bone",
+ "regional part of nervous system",
+ "vertebral column morphology phenotype",
+ "anatomical line between pupils",
+ "multicellular anatomical structure mass phenotype",
+ "absent multicellular anatomical structure in the limb",
+ "aplastic anatomical entity",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "Abnormality of reproductive system physiology",
+ "musculature of body",
+ "musculature of body phenotype",
+ "shape of vertebra phenotype",
"limb skeleton subdivision phenotype",
- "obsolete cell",
- "bone of appendage girdle complex phenotype",
- "manual digitopodium region",
+ "bone of free limb or fin phenotype",
+ "anatomical structure development phenotype",
+ "Aplasia/hypoplasia of the extremities",
+ "skeletal system phenotype",
+ "skeleton of manual acropodium",
+ "nucleic acid metabolic process phenotype",
+ "Abnormality of blood and blood-forming tissues",
+ "decreased number of reticulocyte",
+ "cardiac septum morphology phenotype",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "absent bone of appendage girdle complex",
+ "appendicular skeleton phenotype",
+ "negative regulation of cellular process",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "increased length of the epicanthal fold",
+ "anatomical structure development",
+ "dense connective tissue",
+ "zeugopod",
+ "multi-limb segment region",
+ "negative regulation of gene expression",
+ "Abnormal reticulocyte morphology",
+ "bone element",
+ "primary circulatory organ",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "viscus phenotype",
+ "decreased size of the eyeball of camera-type eye",
+ "Abnormality of the male genitalia",
+ "Deficient excision of UV-induced pyrimidine dimers in DNA",
+ "eukaryotic cell",
+ "forebrain phenotype",
+ "vertebral centrum element",
+ "limb segment phenotype",
+ "subdivision of head",
+ "reproductive structure",
+ "musculoskeletal system phenotype",
"limb morphology phenotype",
+ "myeloid leukocyte",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "absent forelimb long bone",
+ "eye movement",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "increased size of the anatomical entity",
+ "Abnormal forearm bone morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "musculature",
+ "eyeball of camera-type eye",
+ "Abnormal heart morphology",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "skin of head",
+ "absent limb bone",
+ "forelimb zeugopod bone morphology phenotype",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "anatomical line",
+ "forelimb skeleton",
+ "behavior process",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "bone of free limb or fin",
+ "Opisthokonta",
+ "axial skeleton plus cranial skeleton",
"paired limb/fin skeleton",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "Abnormality of metabolism/homeostasis",
- "paired limb/fin skeleton phenotype",
- "limb segment phenotype",
- "limb phenotype",
+ "irregular bone phenotype",
+ "increased length of the zone of skin",
+ "absent limb long bone in the forelimb",
+ "cardiac septum phenotype",
+ "number of anatomical enitites of type bone element phenotype",
+ "reproductive organ physiology phenotype",
+ "phenotype",
+ "absent organ in the renal system",
+ "regulation of biological process phenotype",
"Abnormal appendicular skeleton morphology",
- "paired limb/fin phenotype",
- "manus phenotype",
+ "U-shaped kidney",
+ "Hematological neoplasm",
+ "nervous system morphology phenotype",
+ "skeletal system",
+ "absent bone of appendage girdle complex in the limb",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent limb endochondral element in the forelimb",
+ "sensory perception",
+ "absent forelimb endochondral element",
+ "musculoskeletal system physiology phenotype",
+ "subdivision of skeletal system phenotype",
+ "decreased multicellular anatomical structure mass",
+ "forelimb zeugopod",
+ "abdomen",
+ "regulation of cellular biosynthetic process phenotype",
+ "forelimb zeugopod skeleton",
+ "increased size of the organ part",
+ "paired limb/fin",
+ "organism subdivision phenotype",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "kidney morphology phenotype",
+ "anatomical collection",
+ "cellular response to stimulus",
+ "absent multicellular anatomical structure in the forelimb",
+ "absent forelimb endochondral element in the limb",
+ "ectoderm-derived structure",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "absent radius endochondral element",
+ "absent anatomical structure in the forelimb",
+ "Abnormal myeloid leukocyte morphology",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "eye",
+ "nucleic acid metabolic process",
+ "forelimb skeleton phenotype",
+ "subdivision of skeleton phenotype",
+ "absent anatomical entity in the skeletal system",
+ "embryo development",
+ "Abnormality of the head",
+ "Abnormality of the upper limb",
+ "decreased size of the multicellular anatomical structure",
+ "non-connected functional system",
+ "anatomical collection phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "decreased number of material anatomical entity",
+ "bone of pectoral complex",
+ "skeleton of pectoral complex",
+ "absent skeletal element",
+ "absent bone of pectoral complex",
+ "absent manual digit",
+ "Abnormal immune system morphology",
+ "manus bone",
+ "absent endochondral element",
+ "absent long bone",
+ "appendicular skeleton morphology phenotype",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "axial skeletal system",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "absent endochondral bone",
+ "long bone",
+ "absent radius endochondral element in the forelimb",
+ "absent bone element in the forelimb",
+ "forelimb phenotype",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "endochondral element phenotype",
+ "absent abdomen element in the renal system",
+ "DNA metabolic process",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "camera-type eye",
+ "Absent radius",
+ "Anemic pallor",
+ "appendage phenotype",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "forelimb bone phenotype",
+ "Abnormality of DNA repair",
+ "enucleated reticulocyte morphology phenotype",
+ "decreased qualitatively nervous system process",
+ "Growth abnormality",
+ "multicellular organism mass phenotype",
+ "endochondral element",
+ "skeleton phenotype",
+ "material entity",
+ "anatomical entity height phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "absent mesoderm-derived structure in the limb",
+ "limb bone phenotype",
+ "decreased number of myeloid cell",
+ "absent bone of pectoral complex in the forelimb",
+ "bone element phenotype",
+ "thoracic segment organ",
+ "decreased biological_process",
+ "number of myeloid cell phenotype",
+ "decreased length of material anatomical entity",
"subdivision of skeleton",
- "autopod region phenotype",
- "Abnormality of the hand",
- "autopod region morphology phenotype",
- "paired limb/fin segment",
- "multi-limb segment region",
- "autopodial extension",
- "digit plus metapodial segment",
- "appendage phenotype",
- "Abnormal finger morphology",
- "limb bone",
- "skeleton of limb",
- "manus",
- "limb endochondral element phenotype",
- "forebrain morphology phenotype",
+ "bone cell",
+ "myeloid leukocyte phenotype",
+ "Abnormality of the skeletal system",
+ "absent bone of pectoral complex in the limb",
+ "absent trunk region element in the multicellular organism",
+ "bone of pectoral complex morphology phenotype",
+ "connective tissue phenotype",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "sense organ",
+ "manual digit phenotype",
+ "kinesthetic behavior",
+ "septum",
+ "pectoral appendage skeleton phenotype",
+ "radius bone",
+ "absent material anatomical entity in the skeletal system",
+ "pectoral appendage phenotype",
+ "regulation of biosynthetic process phenotype",
+ "cell phenotype",
"endochondral bone phenotype",
- "segment of autopod",
- "upper limb segment",
- "platelet",
- "digit 1 or 5 phenotype",
- "multi-limb segment region phenotype",
- "number of hematopoietic cell phenotype",
- "simple eye",
- "Abnormality of globe size",
- "system",
- "Thrombocytopenia",
- "biological_process",
- "Abnormality of the orbital region",
- "occurrent",
- "Growth delay",
- "ectoderm-derived structure",
- "cellular organisms",
- "pectoral complex",
- "Myelodysplasia",
- "anatomical entity morphology in the pectoral complex phenotype",
- "Phenotypic abnormality",
- "Abnormal digit morphology",
- "digit 1",
- "mesoderm-derived structure",
- "Abnormal erythroid lineage cell morphology",
- "non-connected functional system",
- "growth phenotype",
- "manus morphology phenotype",
- "musculature of body",
- "bone element",
- "skeletal system",
- "camera-type eye morphology phenotype",
- "neutrophil phenotype",
- "digitopodium region",
- "anatomical system",
- "Abnormal myeloid cell morphology",
- "specifically dependent continuant",
+ "trunk region element phenotype",
+ "absent long bone in the forelimb",
+ "Abnormality of the immune system",
+ "long bone morphology phenotype",
+ "absent limb bone in the forelimb",
"limb endochondral element",
- "decreased number of anatomical structure",
- "subdivision of organism along appendicular axis phenotype",
- "decreased number of cell",
- "paired limb/fin segment phenotype",
- "organ system subdivision phenotype",
- "aplasia or hypoplasia of telencephalon",
- "All",
- "number of anatomical enitites of type neutrophil phenotype",
- "increased qualitatively biological_process",
- "Neutropenia",
- "forelimb",
- "Abnormal cellular phenotype",
- "aplasia or hypoplasia of eyeball of camera-type eye",
- "endochondral element",
- "number of anatomical enitites of type anatomical entity phenotype",
- "growth",
- "blood cell phenotype",
- "hematopoietic system",
- "neoplasm phenotype",
- "Microphthalmia",
- "manual digit 1 or 5",
- "bone cell",
- "visual system phenotype",
- "digit phenotype",
- "delayed growth",
- "number of myeloid cell phenotype",
- "telencephalon morphology phenotype",
- "phenotypic effect",
+ "ectoderm-derived structure physiology phenotype",
+ "aplasia or hypoplasia of skeleton",
+ "size of multicellular organism phenotype",
+ "localised kidney",
+ "reproductive structure physiology phenotype",
+ "aplasia or hypoplasia of anatomical entity",
+ "absent compound organ",
+ "skeleton of limb phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "decreased material anatomical entity mass",
+ "decreased size of the material anatomical entity",
+ "number of leukocyte phenotype",
+ "skeletal element",
+ "limb long bone",
+ "upper urinary tract phenotype",
+ "Abnormal testis morphology",
"number of cell phenotype",
- "Irregular hyperpigmentation",
- "central nervous system phenotype",
- "granulocyte",
- "bone marrow",
- "nucleate cell",
- "cell phenotype",
- "skull morphology phenotype",
- "motile cell",
- "process",
+ "response to stimulus phenotype",
+ "limb endochondral element phenotype",
+ "forelimb endochondral element phenotype",
+ "Microcephaly",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "decreased size of the organism subdivision",
+ "decreased number of neutrophil",
+ "muscle structure phenotype",
+ "forelimb morphology phenotype",
+ "digit 1 digitopodial skeleton",
+ "absent anatomical structure in the limb",
+ "forelimb zeugopod bone phenotype",
+ "absent bone of free limb or fin in the limb",
+ "leukocyte",
+ "blood cell phenotype",
+ "absent anatomical structure",
+ "bone of pectoral complex phenotype",
+ "skeleton of digitopodium",
+ "primary metabolic process phenotype",
+ "anatomical system physiology phenotype",
+ "trunk phenotype",
+ "root",
+ "decreased qualitatively developmental process",
+ "Abnormal tendon morphology",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "nervous system",
+ "Abnormality of the skin",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "epicanthal fold",
+ "interphase",
+ "multi-tissue structure phenotype",
+ "upper urinary tract",
+ "male organism",
+ "multicellular organism morphology phenotype",
+ "immaterial anatomical entity",
+ "absent organ in the multicellular organism",
+ "absent organ in the limb",
"serotonin secreting cell",
- "bone of free limb or fin phenotype",
- "multicellular anatomical structure phenotype",
- "head",
- "hemolymphoid system",
- "hematopoietic cell",
- "manual digit morphology in the manus phenotype",
- "number of anatomical enitites of type granulocyte phenotype",
- "Abnormality of the eye",
- "Abnormal granulocyte morphology",
- "regional part of nervous system",
- "Abnormality of neutrophils",
- "telencephalon phenotype",
- "bone marrow cell",
- "pectoral appendage phenotype",
+ "incomplete closing of the septum",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
+ "telencephalon morphology phenotype",
+ "absent organ",
+ "skeletal element phenotype",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "upper limb segment",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "superficial fascia",
+ "material anatomical entity",
+ "absent multicellular anatomical structure in the renal system",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "trunk",
+ "genitourinary system",
+ "Abnormal erythrocyte morphology",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "external genitalia phenotype",
+ "number of anatomical enitites of type organ phenotype",
+ "absent arm bone",
+ "primary metabolic process",
+ "decreased size of the anatomical entity",
+ "renal system phenotype",
+ "lateral structure",
+ "absent trunk region element",
+ "nervous system process",
+ "eye movement phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "Aplasia involving forearm bones",
"Abnormal leukocyte count",
- "Abnormal hand morphology",
- "secretory cell",
- "Aplasia/Hypoplasia involving the central nervous system",
- "sensory system",
- "skeletal system phenotype",
- "skeletal element",
- "autopodial extension phenotype",
- "musculature",
- "main body axis",
- "axial skeletal system",
- "number of anatomical enitites of type anatomical structure phenotype",
- "myeloid leukocyte",
- "Abnormal cellular immune system morphology",
- "aplasia or hypoplasia of anatomical entity",
- "Abnormal myeloid leukocyte morphology",
- "organ system subdivision",
- "manual digit 1",
- "eyeball of camera-type eye phenotype",
- "continuant",
- "musculoskeletal system",
- "immune system",
- "limb segment",
- "material entity",
- "leukocyte",
- "decreased number of platelet",
+ "nervous system phenotype",
+ "Aplasia/Hypoplasia affecting the eye",
+ "visual system phenotype",
+ "embryo development rate phenotype",
+ "immune system phenotype",
+ "forelimb endochondral element",
+ "forelimb bone",
+ "Absent forearm bone",
+ "Neutropenia",
+ "reproductive system physiology phenotype",
+ "arm bone phenotype",
+ "Neurodevelopmental abnormality",
+ "Abnormality of thrombocytes",
+ "decreased size of the anatomical structure in the pectoral complex",
+ "muscle organ phenotype",
+ "absent cavitated compound organ",
+ "decreased functionality of the multicellular anatomical structure",
+ "absent forelimb zeugopod bone in the forelimb",
+ "absent limb long bone",
+ "musculature phenotype",
+ "reproductive organ",
+ "cellular organisms",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "compound organ",
+ "Reticulocytopenia",
+ "number of anatomical enitites of type neutrophil phenotype",
+ "material anatomical entity phenotype",
+ "upper eyelid",
"subdivision of organism along main body axis",
- "anatomical system phenotype",
- "tissue",
- "Abnormality of the musculoskeletal system",
- "quality",
- "decreased number of hematopoietic cell",
- "Abnormal limb bone morphology",
- "Abnormal immune system morphology",
- "Abnormal brain morphology",
- "forelimb phenotype",
+ "erythrocyte",
+ "zone of organ phenotype",
+ "Abnormal leukocyte morphology",
+ "hemolymphoid system",
+ "absent material anatomical entity in the multicellular organism",
+ "Metazoa",
+ "absent anatomical entity in the renal system",
+ "growth",
+ "reproductive structure phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "non-material anatomical boundary",
+ "absent cavitated compound organ in the renal system",
+ "absent lateral structure in the renal system",
+ "size of eyeball of camera-type eye phenotype",
+ "Hearing abnormality",
+ "Abnormal form of the vertebral bodies",
+ "articular system",
+ "cavitated compound organ phenotype",
+ "eyeball of camera-type eye phenotype",
"taxon specific phenotype",
- "Decreased head circumference",
- "independent continuant",
- "face",
- "sensory system phenotype",
- "Abnormality of the skeletal system",
- "Neoplasm",
- "Abnormal bone marrow cell morphology",
- "multicellular organism",
- "immune system morphology phenotype",
- "Abnormal cell morphology",
- "erythroid lineage cell",
- "Cafe-au-lait spot",
- "anatomical entity",
- "appendicular skeleton phenotype",
- "Growth abnormality",
- "decreased number of leukocyte",
- "Abnormal thumb morphology",
+ "skull",
+ "decreased length of regular connective tissue",
+ "decreased size of the anatomical structure",
+ "body proper",
+ "Abnormal forebrain morphology",
+ "increased length of the material anatomical entity",
+ "Pancytopenia",
+ "Abnormality of body height",
+ "subdivision of skeletal system",
+ "Abnormality of limbs",
+ "excretory system",
+ "renal system morphology phenotype",
"eye phenotype",
- "Abnormal granulocyte count",
- "decreased number of anatomical entity",
- "appendage",
- "Abnormality of the integument",
- "decreased size of the material anatomical entity",
- "sense organ phenotype",
- "cranial skeletal system",
- "anatomical entity morphology phenotype",
- "brain phenotype",
- "organ",
- "limb",
- "manual digit phenotype",
- "anatomical collection",
- "Abnormal leukocyte morphology",
- "phenotype",
- "skeletal element phenotype",
- "Abnormal skeletal morphology",
- "delayed biological_process",
- "Abnormal neutrophil count",
- "leukocyte morphology phenotype",
- "Abnormality of blood and blood-forming tissues",
- "craniocervical region morphology phenotype",
- "Abnormality of chromosome stability",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "absent multicellular anatomical structure",
+ "decreased length of dense connective tissue",
+ "absent abdominal segment element",
+ "trunk region element",
+ "absent compound organ in the renal system",
+ "number of anatomical enitites of type compound organ phenotype",
+ "limb long bone phenotype",
+ "Renal agenesis",
"upper limb segment phenotype",
- "biological_process phenotype",
- "decreased size of the sense organ",
- "endochondral bone",
+ "decreased number of cell",
+ "absent trunk region element in the renal system",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Abnormal skeletal morphology",
+ "connective tissue",
+ "organ system subdivision",
+ "multi-limb segment region phenotype",
+ "absent anatomical entity",
+ "granulocyte",
+ "absent anatomical structure in the renal system",
+ "immune system",
+ "cuneate vertebra",
+ "Abnormal skin morphology",
+ "decreased number of leukocyte",
+ "limb bone",
+ "entire sense organ system",
+ "phenotypic effect",
+ "absent organ in the forelimb",
+ "Abnormal platelet morphology",
+ "decreased system process",
+ "abdominal segment element",
+ "sensory perception of sound",
+ "main body axis",
+ "decreased functionality of the reproductive organ",
+ "subdivision of trunk",
+ "decreased qualitatively sensory perception of sound",
+ "agenesis of anatomical entity",
+ "aplastic forelimb zeugopod bone",
+ "Abnormality of neutrophils",
+ "occurrent",
+ "digit 1 phenotype",
+ "absent anatomical structure in the multicellular organism",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "entity",
+ "Abnormal ocular adnexa morphology",
+ "tendon morphology phenotype",
+ "arm bone",
"anatomical entity phenotype",
- "multicellular organism phenotype",
- "multicellular anatomical structure",
- "material anatomical entity",
- "subdivision of skeletal system",
+ "Abnormal cellular physiology",
+ "number of hematopoietic cell phenotype",
+ "cell",
+ "paired limb/fin skeleton phenotype",
+ "decreased number of anatomical structure",
+ "oxygen accumulating cell",
+ "bone of appendage girdle complex phenotype",
+ "organ physiology phenotype",
+ "manual digit 1 or 5",
+ "external male genitalia",
"number of anatomical enitites of type material anatomical entity phenotype",
- "endochondral element phenotype",
- "subdivision of head",
- "myeloid leukocyte phenotype",
- "autopod region",
- "Neoplasm by anatomical site",
- "anatomical structure",
- "Hematological neoplasm",
+ "mesoderm-derived structure",
+ "Vertebral wedging",
"disconnected anatomical group",
- "multicellular organism morphology phenotype",
- "structure with developmental contribution from neural crest phenotype",
- "subdivision of skeleton phenotype",
- "bone of free limb or fin",
- "appendicular skeleton morphology phenotype",
- "Abnormality of the immune system",
- "blood cell",
- "orbital region",
- "digit morphology phenotype",
- "myeloid cell",
- "digit",
- "decreased size of the ectoderm-derived structure",
- "musculature of body phenotype",
- "axial skeleton plus cranial skeleton",
- "multi-tissue structure",
- "number of leukocyte phenotype",
- "manual digit 1 plus metapodial segment",
- "segment of manus",
- "limb skeleton subdivision",
- "anatomical structure phenotype",
- "hematopoietic system phenotype",
- "appendicular skeleton",
- "granulocyte morphology phenotype",
- "Abnormal platelet morphology",
- "nervous system morphology phenotype",
- "decreased number of myeloid cell",
- "platelet phenotype",
- "lateral structure",
- "anucleate cell",
- "appendage girdle complex",
- "Abnormal platelet count",
- "Abnormal forebrain morphology",
- "increased biological_process in skin of body",
- "number of platelet phenotype",
- "Abnormality of thrombocytes",
+ "renal system",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "hematopoietic cell",
+ "homeostatic process phenotype",
+ "biological regulation",
+ "decreased developmental process",
+ "multicellular organism height phenotype",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "musculoskeletal system",
+ "incomplete closing of the cardiac septum",
+ "Abnormal granulocyte count",
+ "Abnormality of the musculature",
+ "nucleate cell",
+ "decreased qualitatively multicellular organismal process",
+ "gonad phenotype",
+ "male reproductive system phenotype",
+ "subdivision of organism along main body axis phenotype",
+ "decreased multicellular organism development",
+ "ecchymosis",
+ "compound organ phenotype",
+ "regulation of biological process",
+ "Horseshoe kidney",
+ "absent material anatomical entity in the renal system",
+ "motile cell",
+ "regulation of gene expression",
+ "pigmentation",
"limb bone morphology phenotype",
- "digit 1 plus metapodial segment",
- "integumental system phenotype",
- "acropodium region",
- "Abnormal skin morphology",
- "Abnormal axial skeleton morphology",
- "organism",
- "Abnormal erythrocyte morphology",
- "Abnormality of the face",
- "manual digit",
- "Abnormality of limbs",
- "skin of body",
- "integumental system",
- "pigmentation phenotype",
- "Hyperpigmentation of the skin",
- "increased pigmentation in skin of body",
- "size of anatomical entity phenotype",
- "integument phenotype",
- "Abnormality of the skin",
- "regional part of brain",
- "appendicular skeletal system",
+ "decreased qualitatively system process",
+ "decreased qualitatively embryo development",
+ "manual digit 1 phalanx",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "embryo development phenotype",
+ "Abnormality of the genitourinary system",
+ "cardiac septum",
"skin of body phenotype",
- "Multiple cafe-au-lait spots",
- "Hypermelanotic macule",
- "biological_process rate phenotype",
- "Macule",
- "pigmentation",
- "integument",
- "decreased number of material anatomical entity",
- "increased biological_process",
- "eukaryotic cell",
- "increased pigmentation",
+ "immune system morphology phenotype",
+ "independent continuant",
+ "brain phenotype",
+ "circulatory organ phenotype",
+ "forelimb",
+ "decreased size of the anatomical entity in the pectoral complex",
+ "decreased number of granulocyte",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "face",
+ "absent anatomical structure in the skeletal system",
+ "external genitalia",
+ "Phenotypic abnormality",
+ "shape anatomical entity",
+ "aplasia or hypoplasia of manual digit",
+ "absent bone of appendage girdle complex in the forelimb",
+ "paired limb/fin segment",
+ "sensory system phenotype",
"ectoderm-derived structure phenotype",
- "skeleton",
+ "abdominal segment of trunk",
+ "nervous system physiology phenotype",
+ "Cryptorchidism",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "Aplasia/hypoplasia involving forearm bones",
+ "septum phenotype",
+ "Abnormal forearm morphology",
+ "anatomical system phenotype",
+ "individual digit of digitopodial skeleton",
+ "autopod region phenotype",
+ "Abnormal bone marrow cell morphology",
+ "cardiac ventricle",
+ "Abnormality of the integument",
+ "regional part of brain phenotype",
+ "organ",
+ "limb phenotype",
"organ phenotype",
- "Localized skin lesion",
- "Metazoa",
- "homeostatic process phenotype",
- "Abnormality of limb bone",
+ "absent autopodial extension",
+ "Pallor",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "2-D shape anatomical entity",
+ "integumental system",
+ "Abnormal neutrophil count",
+ "anatomical entity",
+ "decreased number of anatomical entity",
+ "manual digit 1 plus metapodial segment",
"organism subdivision",
- "face phenotype",
- "entire sense organ system",
- "eyeball of camera-type eye",
- "subdivision of organism along main body axis phenotype",
- "entity",
- "body proper",
- "musculature phenotype",
- "decreased size of the anatomical structure",
- "craniocervical region",
- "size of eyeball of camera-type eye phenotype",
- "sense organ",
- "craniofacial/craniocervical phenotype",
- "Abnormal eye morphology",
- "face morphology phenotype",
- "craniocervical region phenotype",
- "Abnormality of head or neck",
- "skin of body morphology phenotype",
- "Aplasia/Hypoplasia affecting the eye",
+ "neutrophil phenotype",
+ "absent abdominal segment element in the renal system",
+ "regulation of macromolecule metabolic process phenotype",
+ "bone marrow cell",
+ "cellular process phenotype",
+ "Abnormal cellular immune system morphology",
+ "abdomen element phenotype",
+ "integumental system phenotype",
+ "anatomical structure phenotype",
+ "absent endochondral element in the forelimb",
+ "sense organ physiology phenotype",
+ "multicellular anatomical structure",
+ "appendicular skeletal system",
+ "Renal hypoplasia/aplasia",
"head morphology phenotype",
- "eye",
- "forelimb morphology phenotype",
- "head phenotype",
- "skeletal system morphology phenotype",
- "subdivision of head phenotype",
- "Anemia",
- "decreased size of the multicellular anatomical structure",
- "biogenic amine secreting cell",
- "simple eye phenotype",
- "organism subdivision phenotype",
- "decreased number of granulocyte",
- "mesoderm-derived structure phenotype",
- "anterior region of body",
- "decreased size of the organ",
- "neutrophil",
- "orbital region phenotype",
- "structure with developmental contribution from neural crest",
- "musculoskeletal system phenotype",
- "decreased size of the anatomical entity",
- "visual system",
- "decreased size of the eyeball of camera-type eye",
- "lateral structure phenotype",
- "Abnormality of the head",
- "Abnormality of skin pigmentation",
- "bone element phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "cell",
- "immune system phenotype",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "decreased number of neutrophil",
- "manual digit plus metapodial segment",
- "arm",
- "skeleton of limb phenotype",
- "subdivision of organism along appendicular axis",
- "camera-type eye",
- "pectoral appendage",
- "digit 1 or 5",
- "vision/eye phenotype",
- "bone of appendage girdle complex",
- "camera-type eye phenotype",
- "digit 1 phenotype"
+ "Abnormal male external genitalia morphology",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "continuant",
+ "Abnormality of metabolism/homeostasis"
],
- "has_phenotype_count": 11,
+ "has_phenotype_count": 39,
"highlight": null,
"score": null
},
{
- "id": "MONDO:0044325",
+ "id": "MONDO:0013566",
"category": "biolink:Disease",
- "name": "Fanconi anemia, complementation group W",
+ "name": "Fanconi anemia complementation group L",
"full_name": null,
"deprecated": null,
- "description": null,
+ "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.",
"xref": [
- "DOID:0060978",
- "MEDGEN:1621245",
- "OMIM:617784",
- "UMLS:C4521564"
+ "DOID:0111082",
+ "GARD:15754",
+ "MEDGEN:854018",
+ "OMIM:614083",
+ "UMLS:C3469528"
],
"provided_by": "phenio_nodes",
"in_taxon": null,
"in_taxon_label": null,
"symbol": null,
- "synonym": ["FANCW", "Fanconi anemia, complementation group W"],
+ "synonym": [
+ "FANCL",
+ "FANCL Fanconi anaemia",
+ "FANCL Fanconi anemia",
+ "Fanconi Anemia, complementation Group 50",
+ "Fanconi Anemia, complementation group type 50",
+ "Fanconi anaemia caused by mutation in FANCL",
+ "Fanconi anaemia complementation group type L",
+ "Fanconi anemia caused by mutation in FANCL",
+ "Fanconi anemia complementation group L",
+ "Fanconi anemia complementation group type L",
+ "Fanconi anemia, complementation group L"
+ ],
"uri": null,
"iri": null,
"namespace": "MONDO",
"has_phenotype": [
- "HP:0002247",
- "HP:0002984",
- "HP:0002863",
+ "HP:0001776",
+ "HP:0000369",
+ "HP:0000347",
+ "HP:0003974",
+ "HP:0000465",
+ "HP:0007018",
"HP:0001510",
"HP:0001511",
- "HP:0002119",
"HP:0009777",
- "HP:0001748",
- "HP:0000824",
- "HP:0002518",
- "HP:0002308",
- "HP:0031689",
- "HP:0011800",
- "HP:0000089",
- "HP:0000252",
- "HP:0410049"
+ "HP:0009892",
+ "HP:0004590",
+ "HP:0000151",
+ "HP:0001263",
+ "HP:0003221",
+ "HP:0002032",
+ "HP:0011968",
+ "HP:0001321",
+ "HP:0000175",
+ "HP:0000054",
+ "HP:0002575",
+ "HP:0000238",
+ "HP:0000437",
+ "HP:0000316",
+ "HP:0040012",
+ "HP:0008551",
+ "HP:0001903",
+ "HP:0000957",
+ "HP:0000122",
+ "HP:0002023",
+ "HP:0002188",
+ "HP:0000582",
+ "HP:0000568",
+ "HP:0000470",
+ "HP:0000431",
+ "HP:0005528",
+ "HP:0000089"
],
"has_phenotype_label": [
- "Duodenal atresia",
- "Hypoplasia of the radius",
- "Myelodysplasia",
+ "Bilateral talipes equinovarus",
+ "Low-set ears",
+ "Micrognathia",
+ "Absent radius",
+ "Webbed neck",
+ "Attention deficit hyperactivity disorder",
"Growth delay",
"Intrauterine growth retardation",
- "Ventriculomegaly",
"Absent thumb",
- "Polysplenia",
- "Decreased response to growth hormone stimulation test",
- "Abnormal periventricular white matter morphology",
- "Chiari malformation",
- "Megakaryocyte dysplasia",
- "Midface retrusion",
- "Renal hypoplasia",
- "Microcephaly",
- "Abnormal radial ray morphology"
+ "Anotia",
+ "Hypoplastic sacrum",
+ "Aplasia of the uterus",
+ "Global developmental delay",
+ "Chromosomal breakage induced by crosslinking agents",
+ "Esophageal atresia",
+ "Feeding difficulties",
+ "Cerebellar hypoplasia",
+ "Cleft palate",
+ "Micropenis",
+ "Tracheoesophageal fistula",
+ "Hydrocephalus",
+ "Depressed nasal tip",
+ "Hypertelorism",
+ "Chromosome breakage",
+ "Microtia",
+ "Anemia",
+ "Cafe-au-lait spot",
+ "Unilateral renal agenesis",
+ "Anal atresia",
+ "Delayed CNS myelination",
+ "Upslanted palpebral fissure",
+ "Microphthalmia",
+ "Short neck",
+ "Wide nasal bridge",
+ "Bone marrow hypocellularity",
+ "Renal hypoplasia"
],
"has_phenotype_closure": [
- "HP:0410049",
- "UBERON:0003129",
- "UPHENO:0081566",
- "UPHENO:0004704",
- "HP:0009121",
- "UBERON:0002090",
- "HP:0000252",
- "UBERON:0011138",
- "UBERON:0011143",
+ "HP:0000089",
+ "UBERON:0002405",
+ "UBERON:0002371",
+ "CL:0002092",
+ "HP:0005561",
+ "UPHENO:0006146",
+ "UBERON:0006333",
+ "UPHENO:0001303",
+ "UPHENO:0003067",
+ "HP:0000422",
+ "UPHENO:0001134",
+ "UPHENO:0006173",
+ "UPHENO:0046483",
+ "UPHENO:0002674",
+ "HP:0003319",
+ "UPHENO:0002927",
+ "HP:0000470",
+ "UPHENO:0046426",
+ "UPHENO:0002646",
+ "UBERON:0012477",
+ "UBERON:0006072",
+ "UBERON:0002413",
+ "UPHENO:0046445",
+ "UBERON:0005434",
+ "UPHENO:0046571",
+ "UPHENO:0002934",
+ "UPHENO:0087563",
+ "UPHENO:0075219",
+ "UPHENO:0068971",
+ "UPHENO:0080209",
+ "HP:0100887",
+ "HP:0000568",
+ "UPHENO:0069064",
+ "HP:0030669",
+ "HP:0200006",
+ "HP:0032039",
+ "UPHENO:0005319",
+ "HP:0008050",
+ "UPHENO:0087924",
+ "UPHENO:0075878",
+ "HP:0000315",
+ "UPHENO:0076761",
+ "UPHENO:0046505",
+ "GO:0007272",
+ "UPHENO:0000553",
+ "UPHENO:0050121",
+ "GO:0022010",
+ "UPHENO:0000555",
+ "HP:0002188",
+ "UPHENO:0000554",
+ "GO:0007417",
+ "GO:0021782",
+ "GO:0030154",
+ "GO:0048468",
+ "UPHENO:0050379",
+ "UBERON:0000161",
+ "UPHENO:0063596",
+ "HP:0034915",
+ "UPHENO:0063577",
+ "UPHENO:0086644",
+ "UPHENO:0063599",
+ "HP:0008678",
+ "UBERON:0001008",
+ "UPHENO:0009011",
+ "UPHENO:0011559",
+ "UPHENO:0025211",
+ "UPHENO:0025631",
+ "UPHENO:0026630",
+ "UBERON:0000489",
+ "UPHENO:0011566",
+ "UPHENO:0081210",
+ "UPHENO:0026504",
+ "UPHENO:0026507",
+ "HP:0000077",
+ "UPHENO:0002803",
"UPHENO:3000004",
- "UPHENO:0087427",
+ "UBERON:8450002",
+ "UBERON:0011143",
+ "UPHENO:0075902",
+ "UPHENO:0002909",
+ "UPHENO:0076739",
+ "UPHENO:0003811",
+ "UPHENO:0054970",
+ "UPHENO:0074575",
+ "UPHENO:0054957",
+ "HP:0012733",
+ "HP:0001000",
+ "UPHENO:0003094",
+ "UPHENO:0080662",
+ "UPHENO:0004064",
+ "UBERON:0005172",
+ "HP:0007400",
+ "UBERON:0002199",
+ "HP:0011355",
+ "HP:0011121",
+ "HP:0000953",
+ "HP:0000951",
+ "UPHENO:0074584",
+ "UBERON:0001711",
+ "UPHENO:0050008",
+ "UPHENO:0004459",
+ "UBERON:0002416",
+ "CL:0000081",
+ "CL:0000988",
+ "CL:0000255",
+ "UPHENO:0080010",
+ "UPHENO:0088162",
+ "HP:0001903",
+ "CL:0000764",
+ "HP:0008551",
+ "UPHENO:3000007",
+ "UPHENO:0002864",
+ "UBERON:0000015",
+ "UPHENO:0088186",
+ "HP:0000079",
+ "UPHENO:0001072",
+ "UPHENO:0004757",
+ "HP:0000316",
+ "UPHENO:0075997",
+ "UPHENO:0018424",
+ "UBERON:0000970",
+ "UPHENO:0001304",
+ "UBERON:0000047",
+ "UPHENO:0075195",
+ "UPHENO:0002887",
+ "UBERON:0010230",
+ "UBERON:0000019",
+ "UBERON:0006800",
+ "UPHENO:0072185",
+ "UPHENO:0072194",
+ "UPHENO:0041458",
+ "UPHENO:0002907",
+ "UBERON:0002268",
+ "UPHENO:0041203",
+ "UPHENO:0002837",
+ "UPHENO:0088168",
+ "UBERON:0007827",
+ "UBERON:0000004",
+ "HP:0010938",
+ "HP:0005105",
+ "UPHENO:0002722",
+ "UPHENO:0041098",
+ "UPHENO:0041041",
+ "UBERON:0034929",
+ "UPHENO:0002651",
+ "UPHENO:0087950",
+ "UBERON:0004086",
+ "UPHENO:0088047",
+ "UPHENO:0002532",
+ "UPHENO:0056242",
+ "UBERON:0005282",
+ "UPHENO:0056158",
+ "UPHENO:0075877",
+ "CL:0000329",
+ "UPHENO:0014291",
+ "UPHENO:0014320",
+ "UBERON:0003947",
+ "UPHENO:0005029",
+ "UPHENO:0087430",
+ "UPHENO:0004418",
+ "UPHENO:0081598",
+ "UPHENO:0088185",
+ "GO:0014003",
+ "UBERON:0006314",
+ "UPHENO:0056251",
+ "UPHENO:0001570",
+ "UPHENO:0005230",
+ "UPHENO:0004788",
+ "UBERON:0005358",
+ "UBERON:0005281",
+ "UBERON:0007779",
+ "UBERON:0002390",
+ "UPHENO:0056237",
+ "UPHENO:0014971",
+ "UPHENO:0011845",
+ "UPHENO:0072195",
+ "HP:0002921",
+ "UPHENO:0056149",
+ "UPHENO:0005097",
+ "UPHENO:0011557",
+ "UBERON:0000117",
+ "UBERON:0000072",
+ "UBERON:0007196",
+ "HP:0005607",
+ "UPHENO:0004536",
+ "UPHENO:0002574",
+ "UPHENO:0056150",
+ "HP:0012252",
"UPHENO:0002754",
- "UBERON:0001008",
- "HP:0000077",
- "UPHENO:0002909",
- "UPHENO:0002832",
- "HP:0012210",
- "UPHENO:0087907",
- "UPHENO:0002928",
- "UPHENO:0086589",
- "UPHENO:0081786",
- "UPHENO:0087472",
- "HP:0011800",
- "UPHENO:3000000",
- "HP:0000271",
- "HP:0000234",
- "UBERON:0000033",
+ "UPHENO:0087433",
+ "UPHENO:0076785",
+ "HP:0002575",
+ "HP:0002086",
+ "UBERON:0003126",
+ "UBERON:0001004",
+ "UPHENO:0002734",
+ "UBERON:0003101",
+ "HP:0008736",
+ "UPHENO:0081095",
+ "UBERON:0000989",
+ "HP:0000050",
+ "UPHENO:0002682",
+ "UPHENO:0002595",
+ "HP:0010461",
+ "UPHENO:0002727",
+ "UPHENO:0002597",
+ "UBERON:0008811",
+ "HP:0000054",
+ "UBERON:0004176",
+ "HP:0000122",
+ "UPHENO:0025776",
+ "UPHENO:0002697",
+ "UPHENO:0000556",
+ "UBERON:0000167",
+ "HP:0000175",
+ "UPHENO:0033635",
+ "UBERON:0000464",
+ "HP:0000153",
+ "UPHENO:0004520",
+ "UPHENO:0002962",
+ "UBERON:0000079",
+ "UPHENO:0033589",
+ "UPHENO:0033599",
+ "UPHENO:0033560",
+ "UPHENO:0076760",
+ "UPHENO:0076786",
+ "UPHENO:0086824",
+ "UPHENO:0015184",
+ "UPHENO:0002957",
+ "UPHENO:0033591",
+ "GO:0048869",
+ "UBERON:0001716",
+ "UBERON:0001709",
+ "UBERON:0002553",
+ "UBERON:0000060",
"UPHENO:0087585",
+ "UPHENO:0033587",
+ "UPHENO:0075655",
+ "HP:0000163",
+ "HP:0012443",
+ "UPHENO:0076805",
+ "UBERON:0004733",
+ "UBERON:0000481",
+ "UPHENO:0003459",
+ "UPHENO:0076720",
+ "NCBITaxon:33208",
+ "UBERON:0004923",
+ "UPHENO:0002765",
"UBERON:0000479",
- "UPHENO:0088145",
- "CL:0000556",
- "CL:0002092",
- "HP:0012143",
- "CL:0001035",
- "CL:0000988",
+ "UPHENO:0004173",
+ "HP:0000119",
+ "HP:0002011",
+ "HP:0012639",
+ "UBERON:0004732",
+ "UBERON:0002616",
+ "UBERON:0001017",
+ "UBERON:0002037",
+ "UBERON:0001895",
+ "UPHENO:0002637",
+ "UPHENO:0052694",
+ "NCBITaxon:131567",
+ "UBERON:0011584",
+ "UPHENO:0002902",
+ "UPHENO:0074228",
+ "HP:0011458",
+ "HP:0025032",
+ "UPHENO:0076791",
+ "HP:0025033",
+ "UBERON:0001043",
+ "UPHENO:0063559",
+ "HP:0002031",
+ "UPHENO:0074231",
+ "UPHENO:0087349",
+ "HP:0008684",
+ "HP:0012718",
+ "UPHENO:0002634",
+ "UBERON:0005178",
+ "UPHENO:0063615",
+ "HP:0001321",
+ "UPHENO:0063580",
+ "UBERON:0000915",
+ "UPHENO:0063565",
+ "UPHENO:0063576",
+ "GO:0010468",
+ "GO:0050789",
+ "UPHENO:0002530",
+ "HP:0011968",
+ "UBERON:0002204",
+ "GO:0008152",
+ "UBERON:0002417",
"HP:0025354",
- "HP:0002308",
- "UPHENO:0071315",
- "UBERON:0007811",
- "UPHENO:0071308",
- "UPHENO:0071335",
+ "UPHENO:0086172",
+ "UPHENO:0002891",
+ "HP:0003220",
+ "HP:0031816",
+ "GO:0060255",
+ "GO:0009889",
+ "UPHENO:0081119",
+ "UPHENO:0025545",
+ "UPHENO:0050435",
+ "UPHENO:0002719",
+ "UPHENO:0049868",
+ "GO:0010556",
+ "GO:0009890",
+ "GO:0010605",
+ "HP:0003241",
+ "UPHENO:0074329",
+ "UPHENO:0004523",
+ "BFO:0000015",
+ "GO:0031326",
+ "UPHENO:0026280",
+ "UPHENO:0001003",
+ "GO:0005623",
+ "UBERON:0000916",
+ "UPHENO:0050040",
+ "UPHENO:0087278",
+ "UPHENO:0051450",
+ "UPHENO:0049757",
+ "NBO:0000011",
+ "HP:0001939",
+ "GO:0010629",
+ "UPHENO:0002812",
+ "HP:0025780",
+ "UPHENO:0049904",
+ "GO:0019222",
+ "UPHENO:0002859",
+ "GO:0050794",
+ "UPHENO:0050778",
+ "HP:0001263",
+ "HP:0002973",
+ "UBERON:0003100",
+ "UPHENO:0063581",
+ "UPHENO:0025817",
+ "UBERON:0008340",
+ "UPHENO:0011485",
+ "UPHENO:0002868",
+ "HP:0000369",
+ "UPHENO:0002523",
+ "UPHENO:0009396",
+ "UBERON:0000474",
+ "UPHENO:0087547",
+ "UPHENO:0004047",
+ "UPHENO:0002977",
+ "HP:0000008",
+ "UPHENO:0074237",
+ "UPHENO:0076766",
+ "UPHENO:0002839",
+ "UPHENO:0009031",
+ "UPHENO:0002598",
+ "UPHENO:0025215",
+ "UPHENO:0005170",
+ "GO:0007399",
+ "UPHENO:0003055",
+ "UBERON:0002101",
+ "UBERON:0004122",
+ "UPHENO:0026308",
+ "UBERON:0003103",
+ "UBERON:0003133",
+ "HP:0000151",
+ "UBERON:0012128",
+ "UBERON:0002028",
+ "UBERON:0000995",
+ "UBERON:0003134",
+ "UBERON:0005156",
+ "GO:0007610",
+ "UPHENO:0002642",
+ "UPHENO:0025243",
+ "UPHENO:0003432",
+ "HP:0011282",
+ "UPHENO:0025401",
+ "UPHENO:0025875",
+ "UBERON:0015007",
+ "HP:0002023",
+ "UPHENO:0026152",
+ "UPHENO:0002654",
+ "HP:0000238",
+ "UBERON:0001558",
+ "UBERON:0001684",
+ "UBERON:0001130",
+ "UPHENO:0063594",
+ "UPHENO:0003092",
+ "HP:0000436",
+ "UPHENO:0076752",
+ "HP:0005107",
+ "UBERON:0003135",
+ "UPHENO:0026529",
+ "UPHENO:0003038",
+ "UPHENO:0049642",
+ "HP:0008517",
+ "UBERON:0010709",
+ "UPHENO:0002632",
+ "UPHENO:0026407",
+ "NCBITaxon:33154",
+ "UBERON:0006075",
+ "UPHENO:0026317",
+ "UBERON:0003828",
+ "UBERON:0005179",
+ "UPHENO:0063574",
+ "UBERON:0008001",
+ "UPHENO:0003088",
+ "GO:0010558",
+ "UPHENO:0056230",
+ "UBERON:0002100",
+ "UPHENO:0004486",
+ "HP:0004590",
+ "UPHENO:0002763",
+ "HP:0006501",
+ "UPHENO:0003101",
+ "UPHENO:0002830",
+ "UPHENO:0025777",
+ "UPHENO:0011817",
+ "UPHENO:0004521",
+ "UPHENO:0080110",
+ "UPHENO:0026514",
+ "UPHENO:0050734",
+ "UPHENO:0063639",
+ "UPHENO:0009305",
+ "UPHENO:0025234",
+ "UPHENO:0080196",
+ "HP:0009892",
+ "GO:0048731",
+ "UPHENO:0056226",
+ "UBERON:0007375",
+ "UPHENO:0008689",
+ "UPHENO:0003002",
+ "HP:0000104",
+ "UPHENO:0050068",
+ "UPHENO:0026082",
+ "HP:0000001",
+ "UPHENO:0011739",
+ "UPHENO:0080087",
+ "UPHENO:0026984",
+ "UPHENO:0002715",
+ "UBERON:0004247",
+ "HP:0009380",
+ "UPHENO:0084448",
+ "UPHENO:0003069",
+ "GO:0050890",
+ "HP:0009601",
+ "UBERON:0012141",
+ "UPHENO:0011825",
"UPHENO:0075948",
- "HP:0001317",
- "UBERON:0004733",
- "HP:0002438",
- "UPHENO:0003459",
- "UPHENO:0071325",
- "UPHENO:0081601",
- "UPHENO:0071317",
- "HP:0011282",
- "UBERON:0002028",
- "UPHENO:0002765",
- "UBERON:0001869",
- "UPHENO:0003030",
- "UPHENO:0074036",
- "UBERON:0019261",
- "UPHENO:0002834",
- "HP:0007367",
- "UPHENO:0073898",
- "HP:0002180",
- "HP:0002352",
- "UPHENO:0074038",
- "UPHENO:0081562",
- "HP:0002500",
- "UPHENO:0087902",
- "UPHENO:0003001",
- "UPHENO:0089366",
- "UPHENO:0073911",
- "HP:0002518",
- "NCBITaxon:6072",
- "UBERON:0000073",
- "UBERON:0000007",
- "GO:0009914",
- "GO:0046903",
- "GO:0071705",
- "UBERON:0005162",
- "UPHENO:0003055",
- "UPHENO:0053274",
- "UPHENO:0082875",
- "NCBITaxon:2759",
- "UBERON:0000179",
- "GO:0032940",
- "GO:0007267",
- "UPHENO:0083689",
- "UPHENO:0049647",
- "UPHENO:0002523",
- "UPHENO:0053121",
- "UBERON:0005156",
- "UBERON:0002371",
- "UBERON:0000178",
- "UPHENO:0002642",
- "UPHENO:0002529",
- "UBERON:0001456",
- "UPHENO:0002579",
- "UPHENO:0052554",
- "HP:0010935",
- "UBERON:0002316",
- "UPHENO:0075772",
- "UPHENO:0081628",
- "UPHENO:0053234",
- "UPHENO:0050064",
- "UPHENO:0005571",
- "UPHENO:0073937",
- "UPHENO:0005470",
- "UPHENO:0052678",
- "UPHENO:0005590",
- "UPHENO:0005534",
- "UPHENO:0083952",
- "UPHENO:0053013",
- "UPHENO:0077890",
- "UPHENO:0052714",
- "UPHENO:0049724",
- "UPHENO:0074037",
- "UBERON:0002368",
- "UPHENO:0050014",
- "NCBITaxon:131567",
- "UPHENO:0002902",
- "HP:0032367",
- "UPHENO:0052226",
- "HP:0000089",
- "UPHENO:0049871",
- "UPHENO:0002685",
- "GO:0002790",
- "UBERON:0003296",
- "UBERON:0002616",
+ "UPHENO:0002833",
+ "UPHENO:0002708",
+ "BFO:0000141",
+ "HP:0001167",
"UPHENO:0050065",
- "UPHENO:0005602",
- "UPHENO:0050581",
- "UPHENO:0002621",
- "UPHENO:0004618",
- "UPHENO:0052518",
- "UBERON:0001894",
- "UPHENO:0052867",
- "UBERON:0000481",
- "HP:0010662",
- "UPHENO:0049829",
- "UBERON:0000949",
- "GO:0065008",
- "UPHENO:0005506",
- "UPHENO:0005570",
- "UPHENO:0080588",
- "UBERON:0010314",
- "UPHENO:0005458",
- "UPHENO:0005552",
- "HP:0000309",
- "UPHENO:0087547",
- "HP:0100547",
- "UBERON:0002530",
- "UPHENO:0087376",
- "UPHENO:0052354",
- "GO:0015833",
- "UPHENO:0005441",
- "GO:0065007",
- "GO:0009987",
- "UPHENO:0052715",
- "UPHENO:0077889",
- "HP:0000824",
- "UBERON:0000454",
- "UPHENO:0052245",
- "UPHENO:0076957",
- "UPHENO:0078743",
- "HP:0031073",
- "HP:0000830",
- "UPHENO:0005504",
- "UBERON:0000990",
- "NCBITaxon:1",
- "UPHENO:0004621",
- "HP:0002977",
- "UPHENO:0002553",
- "UPHENO:0003004",
- "UPHENO:0088065",
- "NCBITaxon:33154",
- "GO:0030072",
- "UBERON:0003937",
- "UBERON:0004089",
- "UBERON:0003133",
- "HP:0010993",
- "UBERON:0001890",
- "UBERON:0004092",
- "GO:0050789",
- "GO:0051234",
- "NCBITaxon:33208",
- "UPHENO:0080187",
- "BFO:0000004",
- "UPHENO:0003065",
- "UPHENO:0002637",
- "UBERON:0002495",
- "UPHENO:0073978",
- "HP:0040075",
- "HP:0002984",
- "UPHENO:0002559",
+ "HP:0002795",
+ "UBERON:5001463",
+ "UPHENO:0003952",
+ "UBERON:0002389",
+ "UBERON:0005881",
+ "UPHENO:0004476",
+ "UPHENO:0002650",
+ "HP:0001155",
+ "UBERON:0012139",
+ "UBERON:0006048",
+ "UPHENO:0011563",
+ "UPHENO:0081328",
+ "UPHENO:0074330",
+ "UPHENO:0026706",
+ "UBERON:0019231",
+ "UPHENO:0074227",
+ "UPHENO:0002813",
+ "UPHENO:0008743",
+ "UPHENO:0074311",
+ "HP:0000036",
+ "UPHENO:0009021",
+ "UPHENO:0080099",
+ "UPHENO:0002905",
+ "UPHENO:0049743",
+ "UPHENO:0081091",
+ "UPHENO:0002269",
+ "UPHENO:0026014",
+ "GO:0022008",
+ "HP:0025668",
+ "UPHENO:0025544",
+ "UBERON:0003690",
+ "UPHENO:0076723",
+ "UBERON:0012354",
+ "UBERON:0002398",
+ "UPHENO:0000552",
+ "NCBITaxon:6072",
+ "UPHENO:0052178",
+ "UPHENO:0049620",
+ "UBERON:0001463",
+ "HP:0000957",
+ "UBERON:0008907",
+ "GO:0048523",
+ "UPHENO:0080114",
+ "UPHENO:0002875",
+ "UPHENO:0009146",
+ "UPHENO:0078606",
+ "UPHENO:0076724",
+ "UBERON:0002544",
"CL:0000000",
- "UPHENO:0074310",
- "UPHENO:0003227",
- "UPHENO:0002859",
- "HP:0025461",
- "HP:0002818",
- "UPHENO:0002944",
+ "UBERON:0003278",
+ "UBERON:0001442",
+ "UPHENO:0081466",
+ "UPHENO:0086700",
+ "HP:0006265",
+ "HP:0001172",
+ "UBERON:0004089",
+ "HP:0009777",
"UPHENO:0008548",
- "HP:0011314",
+ "GO:0007275",
+ "UPHENO:0080393",
+ "UBERON:0002193",
+ "HP:0031703",
+ "UPHENO:0050108",
+ "UBERON:0003466",
+ "UPHENO:0050034",
+ "UPHENO:0008850",
+ "UPHENO:0075890",
+ "UPHENO:0049966",
+ "UPHENO:0005597",
+ "UPHENO:0053456",
+ "UBERON:0002075",
+ "UPHENO:0005647",
+ "UBERON:0000955",
+ "UPHENO:0080382",
+ "UPHENO:0003095",
+ "UBERON:0003129",
+ "UBERON:0000165",
+ "UPHENO:0005573",
+ "UPHENO:0076735",
+ "UPHENO:0049775",
+ "UBERON:0001270",
+ "HP:0001511",
+ "UPHENO:0026600",
+ "GO:0048856",
+ "UPHENO:0026010",
+ "GO:0031049",
+ "UBERON:0011249",
+ "UBERON:0012140",
+ "UPHENO:0002987",
+ "HP:0001510",
+ "UBERON:0004768",
+ "UPHENO:0002955",
+ "UPHENO:0000543",
+ "GO:0040007",
+ "UPHENO:0049874",
+ "HP:0001507",
+ "UPHENO:0009382",
+ "UPHENO:0056333",
+ "UPHENO:0003058",
+ "GO:0003008",
+ "UPHENO:0080171",
+ "UPHENO:0072264",
+ "UPHENO:0080079",
+ "UPHENO:0002267",
+ "UPHENO:0003410",
+ "HP:5200263",
+ "HP:0000202",
"UPHENO:0002910",
- "UPHENO:0005214",
- "HP:0011024",
- "UPHENO:0069327",
- "HP:0045060",
- "UBERON:0001434",
- "HP:0000078",
- "UBERON:0015212",
- "UBERON:0004381",
- "UBERON:0005173",
- "UBERON:0000383",
- "UPHENO:0012308",
- "UPHENO:0075195",
- "UPHENO:0002538",
- "UBERON:0010740",
- "UPHENO:0071339",
- "UPHENO:0002596",
- "UPHENO:0068898",
- "UPHENO:0052180",
- "UPHENO:0001360",
- "CHEBI:24431",
- "UBERON:0019231",
- "UPHENO:0052937",
- "UPHENO:0046538",
- "UPHENO:0087339",
- "UPHENO:0003936",
- "HP:0009826",
- "UPHENO:0074054",
+ "HP:0100543",
+ "UBERON:0013515",
+ "UPHENO:0080325",
+ "UPHENO:0049622",
"GO:0008150",
- "UBERON:0001895",
- "UPHENO:0049890",
- "UPHENO:0056077",
- "UBERON:0010538",
- "UBERON:0010363",
- "UBERON:0002470",
- "UPHENO:0002678",
- "UPHENO:0046552",
- "UPHENO:0074237",
+ "HP:0000707",
+ "UPHENO:0003086",
+ "UPHENO:0026309",
+ "HP:0000174",
+ "HP:0025766",
+ "UPHENO:0049587",
+ "UBERON:0004451",
+ "HP:0007018",
+ "UPHENO:0041080",
+ "NBO:0000308",
+ "UPHENO:0002769",
+ "UPHENO:0002896",
+ "GO:0032501",
+ "BFO:0000003",
+ "UPHENO:0080281",
+ "HP:0011446",
"HP:0025031",
- "UPHENO:0076727",
- "UPHENO:0081091",
- "UPHENO:0003095",
- "UBERON:0010323",
- "UPHENO:0011609",
- "UPHENO:0005426",
- "UPHENO:0081435",
- "UPHENO:0002536",
- "UPHENO:0076740",
- "UPHENO:0046540",
- "UBERON:0008962",
- "UPHENO:0009209",
- "UPHENO:0053355",
- "UBERON:0015001",
+ "HP:5200241",
+ "HP:0009118",
+ "UPHENO:0050106",
+ "UBERON:0000466",
+ "HP:0000736",
+ "UPHENO:0002385",
+ "UPHENO:0005596",
+ "UPHENO:0014285",
+ "UPHENO:0005022",
+ "HP:0000752",
+ "UBERON:0001016",
+ "NBO:0000313",
+ "UBERON:0001474",
+ "HP:5200044",
+ "UPHENO:0003074",
+ "UPHENO:0081320",
+ "HP:0000465",
+ "UBERON:0002091",
+ "UBERON:0004120",
+ "UPHENO:0087510",
+ "UPHENO:0002750",
+ "UPHENO:0026096",
+ "HP:0006503",
+ "UBERON:0001137",
+ "UPHENO:0005106",
+ "HP:0000130",
+ "UPHENO:0081511",
+ "UPHENO:0002755",
+ "NCBITaxon:1",
+ "HP:0011844",
+ "UPHENO:0026509",
+ "UPHENO:0025808",
+ "UBERON:0002412",
+ "UPHENO:0025497",
+ "UPHENO:0009344",
+ "UBERON:0010712",
+ "GO:0031323",
+ "UBERON:0011159",
+ "HP:0002817",
+ "UPHENO:0000558",
+ "UPHENO:0081601",
+ "HP:0001871",
+ "UPHENO:0075944",
+ "HP:0012243",
+ "UPHENO:0026813",
+ "UBERON:0001444",
+ "UPHENO:0026239",
+ "UPHENO:0011749",
+ "UBERON:0004175",
"UBERON:0001440",
- "UPHENO:0002554",
- "UPHENO:0046465",
- "UBERON:0003606",
- "UPHENO:0049587",
- "UPHENO:0002267",
- "UPHENO:0049894",
- "UBERON:0002386",
- "UPHENO:0014322",
- "UPHENO:0005611",
- "UPHENO:0002746",
- "UPHENO:0080079",
- "UBERON:0001463",
- "HP:0000864",
- "UBERON:0011249",
- "UPHENO:0046405",
- "UPHENO:0068921",
- "UBERON:0004122",
+ "UPHENO:0050406",
+ "UPHENO:0003050",
+ "UBERON:0015001",
+ "HP:0000812",
+ "UPHENO:0008430",
+ "UBERON:0004375",
+ "UPHENO:0025883",
+ "UPHENO:0025176",
+ "HP:0040012",
+ "UBERON:0000061",
+ "UPHENO:0025585",
+ "UBERON:0034925",
"UPHENO:0002976",
- "HP:0009601",
- "UPHENO:0074028",
- "UPHENO:0002594",
- "HP:0009815",
- "HP:0003026",
- "UPHENO:0069163",
- "UBERON:0000025",
- "UPHENO:0080200",
- "UPHENO:0002648",
- "UPHENO:0046455",
- "UPHENO:0004523",
- "HP:0040195",
- "GO:0046879",
- "UBERON:0004710",
- "UPHENO:0002896",
- "UBERON:0006717",
- "UPHENO:0068848",
- "UBERON:0011216",
- "UPHENO:0046484",
- "UPHENO:0077887",
- "UPHENO:0002861",
+ "HP:0002813",
+ "UPHENO:0086633",
+ "UBERON:0000990",
+ "NBO:0000607",
+ "UBERON:0004119",
+ "UPHENO:0003415",
+ "GO:0032291",
+ "HP:0009116",
+ "UPHENO:0002751",
+ "UPHENO:0025845",
+ "UPHENO:0025811",
+ "UPHENO:0025547",
+ "UBERON:0004053",
+ "UPHENO:0050007",
+ "UPHENO:0001002",
"UBERON:0008785",
- "UPHENO:0076718",
- "UPHENO:0081227",
- "UPHENO:0049927",
- "UBERON:0011584",
- "GO:0010817",
- "UPHENO:0068912",
- "UBERON:0015061",
- "UPHENO:0087516",
- "UBERON:5002544",
- "UPHENO:0046479",
- "UPHENO:0002650",
- "UPHENO:0002531",
- "UPHENO:0063629",
- "UPHENO:0002808",
+ "UPHENO:0002736",
+ "UPHENO:0074230",
+ "UPHENO:0002971",
+ "UPHENO:0002546",
+ "UBERON:0010363",
+ "UPHENO:0074245",
"UPHENO:0076779",
- "UPHENO:0087940",
- "UPHENO:0046554",
- "UPHENO:0004909",
- "UBERON:0000489",
- "UPHENO:0002632",
- "UPHENO:0063569",
- "UPHENO:0046460",
- "HP:0009115",
- "UBERON:0000465",
- "UBERON:0002204",
+ "UPHENO:0002594",
+ "UPHENO:0026506",
+ "UBERON:0015061",
+ "UPHENO:0002433",
+ "UPHENO:0081099",
+ "UPHENO:0002738",
+ "UPHENO:0025166",
+ "HP:0009822",
+ "UPHENO:0025195",
+ "UPHENO:0001584",
+ "UPHENO:0008709",
+ "HP:0011297",
+ "UBERON:0000064",
+ "UPHENO:0087501",
+ "UPHENO:0026181",
+ "UBERON:0001691",
+ "UPHENO:0080111",
+ "UBERON:0002097",
+ "UBERON:0000020",
+ "UPHENO:0081566",
+ "UPHENO:0025136",
+ "UPHENO:0003936",
"UPHENO:0027017",
- "UPHENO:0087531",
- "HP:0040068",
- "UPHENO:0002659",
- "UPHENO:0005230",
- "UPHENO:0076723",
- "UPHENO:0001003",
- "UPHENO:0052160",
- "UPHENO:0063615",
- "UBERON:8450002",
- "UPHENO:0005092",
- "UPHENO:0003812",
- "UPHENO:0074311",
- "UPHENO:0056047",
- "UPHENO:0069328",
- "UPHENO:0011825",
- "GO:0030252",
- "UBERON:0001555",
- "UPHENO:0000543",
- "UPHENO:0002719",
- "UBERON:0003460",
- "UPHENO:0005652",
- "HP:0040064",
- "HP:0002119",
- "UPHENO:0004518",
- "HP:0001748",
- "UPHENO:0075944",
- "UPHENO:0002994",
- "UPHENO:0074051",
- "UPHENO:0076735",
- "UBERON:0002113",
- "UPHENO:0086735",
- "UPHENO:0063639",
- "UBERON:0003947",
- "UPHENO:0003005",
- "UBERON:0002471",
- "UBERON:0010703",
- "UPHENO:0011559",
- "UPHENO:0081581",
- "UPHENO:0002525",
- "UBERON:0001062",
- "UPHENO:0087518",
- "HP:0040072",
- "UPHENO:0088047",
- "UBERON:0004732",
- "HP:0002817",
- "HP:0002589",
- "UPHENO:0009146",
- "UPHENO:0014333",
- "UBERON:0003103",
- "UPHENO:0003952",
+ "NCBITaxon:2759",
+ "UBERON:0004756",
+ "UPHENO:0009399",
+ "UPHENO:0075998",
"UBERON:0005409",
- "UBERON:0002544",
- "UPHENO:0086633",
- "UPHENO:0074229",
- "UPHENO:0069194",
- "HP:0000929",
- "UPHENO:0071344",
- "UBERON:0004288",
- "UPHENO:0076692",
- "UPHENO:0076724",
- "UPHENO:0011670",
- "UBERON:0005881",
- "HP:0001626",
+ "UPHENO:0005642",
+ "UPHENO:0002983",
+ "UPHENO:0081575",
+ "UPHENO:0011548",
+ "GO:0048709",
+ "CL:0000763",
+ "UBERON:0000025",
+ "UPHENO:0026073",
+ "UPHENO:0063586",
+ "UPHENO:0003413",
+ "UPHENO:0003082",
+ "HP:0003953",
+ "UPHENO:0026097",
+ "UPHENO:0003053",
+ "HP:0001317",
+ "UPHENO:0004909",
+ "UPHENO:0026808",
+ "UBERON:0002470",
+ "UBERON:0001710",
+ "UPHENO:0005058",
+ "UPHENO:0002448",
+ "UPHENO:3000000",
"UPHENO:0086956",
- "UBERON:0002114",
- "UPHENO:0002988",
- "UPHENO:0004802",
- "UBERON:0010708",
- "HP:0002247",
- "UPHENO:0025587",
- "HP:0008678",
- "UBERON:0015021",
- "UBERON:0005057",
- "UBERON:0000467",
- "UBERON:0001893",
- "UPHENO:0068839",
- "UPHENO:0011563",
- "UBERON:0001009",
- "UBERON:0000468",
- "UPHENO:0002816",
- "HP:0040070",
- "UPHENO:0076703",
- "UBERON:0013765",
- "UPHENO:0002530",
- "UBERON:0000075",
- "UBERON:0010712",
- "UBERON:0007272",
- "UPHENO:0003087",
- "UBERON:0001007",
- "UBERON:0002108",
- "UPHENO:0076754",
- "UPHENO:0002830",
- "UPHENO:0002880",
- "HP:0011747",
- "UPHENO:0069030",
- "UPHENO:0002750",
- "UPHENO:0063558",
- "UPHENO:0002668",
- "HP:0002246",
- "UPHENO:0002568",
- "UBERON:0002398",
- "UPHENO:0046472",
- "HP:0002813",
"BFO:0000002",
"UPHENO:0063563",
- "OBI:0100026",
- "UPHENO:0002963",
- "UPHENO:0049966",
- "HP:0005922",
- "UPHENO:0079872",
- "UBERON:0002428",
- "UBERON:0002100",
- "UBERON:0001015",
+ "UPHENO:0008816",
+ "UPHENO:0075804",
+ "UPHENO:0003812",
+ "UPHENO:0076718",
+ "HP:0000366",
+ "UPHENO:0002944",
+ "UPHENO:0008640",
+ "HP:0002818",
+ "UPHENO:0009337",
+ "UPHENO:0063603",
"UBERON:0002513",
+ "UPHENO:0004956",
+ "UPHENO:0026146",
+ "UPHENO:0025570",
+ "UBERON:0001555",
+ "GO:0042063",
+ "UBERON:0002495",
+ "UPHENO:0009115",
+ "UPHENO:0025135",
+ "UBERON:0002113",
+ "UPHENO:0033565",
+ "UPHENO:0084457",
+ "UPHENO:0011533",
+ "UPHENO:0003005",
+ "UBERON:0001460",
+ "UPHENO:0026811",
+ "UPHENO:0025666",
+ "UPHENO:0026227",
+ "UPHENO:0002593",
+ "UPHENO:0003514",
+ "UPHENO:0018426",
+ "UPHENO:0008487",
+ "UBERON:0000463",
+ "UPHENO:0025507",
+ "UBERON:0001245",
+ "HP:0000811",
+ "UPHENO:0009192",
+ "UPHENO:0002880",
+ "HP:0000598",
+ "UPHENO:0076754",
+ "UBERON:0013765",
+ "HP:0000437",
+ "UPHENO:0009391",
+ "UPHENO:0068914",
+ "HP:0008056",
+ "UPHENO:0002732",
+ "UBERON:0004111",
+ "UPHENO:0002994",
+ "UPHENO:0026108",
+ "UPHENO:0026486",
+ "UPHENO:0002643",
"UPHENO:0003460",
- "BFO:0000001",
- "GO:0040007",
- "HP:0000818",
- "UPHENO:0063575",
- "UBERON:0010707",
- "UPHENO:0086621",
- "UPHENO:0012440",
- "UPHENO:0004507",
- "UPHENO:0005542",
- "UPHENO:0087349",
- "UPHENO:0002803",
- "UBERON:0001474",
- "UBERON:0010000",
- "HP:0009821",
- "HP:0033127",
- "UBERON:0000063",
- "UPHENO:0003415",
- "UBERON:0001017",
- "UBERON:5001463",
- "UPHENO:0002833",
- "GO:0032502",
- "HP:0000924",
- "UPHENO:0074228",
- "UBERON:0010758",
- "HP:0012718",
- "UPHENO:0001001",
- "UPHENO:0049733",
- "UPHENO:0002526",
- "UPHENO:0046505",
- "UPHENO:0001440",
+ "GO:0010001",
+ "UPHENO:0008475",
+ "UPHENO:0008827",
+ "GO:0043473",
+ "CL:0000232",
+ "UPHENO:0009010",
+ "UPHENO:0002721",
+ "UPHENO:0076727",
+ "HP:0005927",
+ "UPHENO:0009341",
+ "UBERON:0007272",
+ "UPHENO:0087472",
"BFO:0000040",
- "UPHENO:0087501",
- "UPHENO:0002546",
- "UBERON:0002193",
- "HP:0011283",
- "UPHENO:0068838",
- "UPHENO:0081594",
- "UBERON:0000062",
- "UPHENO:9002003",
- "UPHENO:0014302",
- "GO:0007154",
- "UBERON:0004111",
- "UPHENO:0074330",
- "UPHENO:0005597",
- "UPHENO:0004476",
- "UBERON:0011215",
- "UBERON:0011299",
- "UPHENO:0002945",
- "UPHENO:0050108",
- "UBERON:0010741",
- "UPHENO:0076783",
- "UBERON:0011582",
- "UPHENO:0052178",
- "HP:0002242",
- "UPHENO:0002634",
- "UPHENO:0080126",
- "HP:0000118",
- "UBERON:0006314",
- "UPHENO:0046445",
- "UPHENO:0084771",
- "UPHENO:0046483",
- "UPHENO:0002949",
- "UBERON:0013522",
- "UPHENO:0046392",
- "UBERON:0002075",
- "UPHENO:0002738",
- "UBERON:0000955",
- "UPHENO:0075902",
- "UPHENO:0086635",
- "UPHENO:0075804",
- "HP:0000119",
- "GO:0023061",
- "UPHENO:0074335",
- "UPHENO:0046396",
- "HP:0006503",
- "UPHENO:0002782",
- "UPHENO:0069047",
- "UBERON:0002437",
- "UPHENO:0075175",
- "HP:0000152",
"UPHENO:0002785",
- "UPHENO:0003514",
+ "UBERON:0007811",
+ "HP:0045060",
+ "UPHENO:0087974",
+ "UPHENO:0025708",
+ "UPHENO:0033572",
+ "UBERON:0015212",
"HP:0006496",
- "UPHENO:0002926",
- "UPHENO:0009163",
- "UPHENO:0086932",
- "UBERON:0015204",
- "UBERON:0000061",
- "HP:0005561",
+ "UPHENO:0002967",
+ "HP:0100886",
+ "UPHENO:0002964",
+ "HP:0001034",
+ "UPHENO:0027014",
+ "UPHENO:0002861",
+ "UPHENO:0080089",
+ "UPHENO:0011538",
+ "HP:0010460",
+ "HP:0009815",
+ "UPHENO:0026098",
+ "GO:0009987",
+ "UBERON:0001005",
+ "UPHENO:0009020",
+ "HP:0001574",
+ "HP:0001762",
"UBERON:0000026",
- "UBERON:0004120",
- "UBERON:0002091",
- "UPHENO:0011931",
- "UPHENO:0069292",
- "UBERON:0003466",
- "BFO:0000020",
- "UPHENO:0026183",
- "UPHENO:0004595",
- "UPHENO:0003432",
- "UBERON:0012354",
- "UBERON:0000477",
- "UBERON:0003544",
- "UPHENO:0012274",
- "UBERON:0005281",
- "UPHENO:0026181",
- "UPHENO:0002593",
- "UPHENO:0076790",
- "UPHENO:0076799",
- "UPHENO:0002600",
- "HP:0031071",
- "HP:0000001",
- "UPHENO:0076720",
- "UPHENO:0080220",
- "UPHENO:0046397",
- "UPHENO:0002751",
- "UPHENO:0002841",
- "RO:0002577",
- "UBERON:0004765",
- "UPHENO:0005434",
- "UPHENO:0046403",
- "UBERON:0012475",
- "HP:0011842",
- "PATO:0000001",
- "UPHENO:0083951",
+ "UPHENO:0003411",
+ "UPHENO:0011573",
+ "UPHENO:0002659",
+ "HP:0000078",
"UPHENO:0079876",
- "UPHENO:0084763",
- "UPHENO:0081313",
- "UPHENO:0063586",
- "UBERON:0002529",
- "UBERON:0003607",
- "UPHENO:0009020",
- "UBERON:0001423",
- "UPHENO:0069064",
- "UPHENO:0002983",
- "UPHENO:0069125",
- "UPHENO:0002844",
- "UBERON:0000916",
- "UPHENO:0002964",
- "HP:0002244",
- "UBERON:0005451",
- "UPHENO:0011572",
- "HP:0002863",
- "UPHENO:0069062",
- "HP:0002973",
- "UPHENO:0011566",
- "UPHENO:0002731",
- "UPHENO:0068932",
- "UPHENO:0002764",
- "HP:0003117",
- "UBERON:0000160",
- "UPHENO:0011536",
+ "UPHENO:0009295",
+ "UPHENO:0025961",
+ "UPHENO:0003093",
"UPHENO:0002586",
- "UPHENO:0001340",
- "UPHENO:0001002",
- "UPHENO:0003025",
- "UBERON:0010912",
- "UPHENO:0084448",
- "UBERON:0000463",
- "HP:0004377",
- "HP:0011793",
- "UPHENO:0002725",
- "UPHENO:0026010",
+ "UBERON:0002428",
+ "UPHENO:0009366",
+ "GO:0050877",
+ "UPHENO:0003070",
+ "UBERON:0000475",
+ "HP:5201015",
+ "UPHENO:0025509",
+ "UBERON:0001423",
+ "HP:0000464",
+ "UPHENO:0006147",
+ "UPHENO:0002772",
+ "UPHENO:0081786",
+ "UPHENO:0079872",
+ "UBERON:0004456",
+ "UPHENO:0008703",
+ "UPHENO:0063579",
+ "CL:0001035",
+ "UBERON:0000075",
+ "UPHENO:0002685",
+ "UBERON:0004765",
+ "HP:0030791",
+ "UBERON:0010703",
+ "UPHENO:0088170",
+ "UPHENO:0076702",
+ "UPHENO:0002866",
+ "UPHENO:0033612",
+ "UPHENO:0002942",
+ "UBERON:0001819",
+ "UPHENO:0005433",
+ "UPHENO:0025508",
+ "HP:0001760",
+ "UPHENO:0081788",
+ "UBERON:0011676",
+ "UPHENO:0002553",
+ "UPHENO:0025587",
+ "UPHENO:0004625",
+ "UPHENO:0002988",
+ "HP:0000152",
+ "HP:0011400",
+ "UPHENO:0050126",
+ "UPHENO:0004704",
+ "UPHENO:0002648",
+ "GO:0065007",
+ "UBERON:0010741",
+ "UPHENO:0009129",
+ "UPHENO:0002585",
+ "UPHENO:0011498",
+ "UPHENO:0011847",
+ "UPHENO:0001025",
+ "UPHENO:0002903",
+ "UPHENO:0087427",
+ "UBERON:0000383",
+ "UPHENO:0025553",
+ "UPHENO:0002554",
+ "HP:0000357",
+ "HP:0012758",
+ "UPHENO:0081451",
+ "UPHENO:0002746",
+ "UPHENO:0084761",
+ "UBERON:0004921",
+ "UPHENO:0002816",
+ "UBERON:0004710",
+ "UPHENO:0003085",
+ "UPHENO:0084763",
+ "HP:0040072",
+ "UPHENO:0052160",
+ "UPHENO:0052855",
+ "UBERON:0010314",
+ "UPHENO:0014351",
+ "HP:0000929",
+ "UBERON:0003457",
+ "UBERON:0002105",
+ "UPHENO:0011568",
+ "UBERON:0035639",
+ "UPHENO:0025852",
+ "UBERON:0011156",
+ "UBERON:0006077",
+ "UPHENO:0082875",
+ "UPHENO:0026074",
+ "UPHENO:0002945",
+ "UBERON:0000062",
+ "UPHENO:0087907",
+ "UBERON:0011138",
+ "UBERON:0012475",
+ "UBERON:0004088",
+ "UBERON:0006983",
+ "UBERON:0003463",
"UBERON:0011137",
- "UBERON:0004535",
- "UBERON:0002390",
- "HP:0001510",
- "UBERON:0001016",
- "UPHENO:0004459",
- "UPHENO:0005120",
- "HP:0001871",
- "UPHENO:0014335",
- "UPHENO:0002905",
- "UBERON:0002196",
- "UPHENO:0080325",
- "HP:0002664",
- "UPHENO:0063565",
- "HP:0012503",
- "HP:0001507",
- "UPHENO:0000541",
- "BFO:0000015",
- "UPHENO:0002736",
- "UPHENO:0069266",
- "UPHENO:0008523",
- "UBERON:0002049",
+ "UPHENO:0003516",
+ "UPHENO:0011572",
+ "UPHENO:0002782",
+ "HP:0011024",
+ "UBERON:0011216",
+ "UPHENO:0076803",
+ "HP:0011821",
+ "HP:0012447",
+ "HP:0000924",
+ "UBERON:0008784",
+ "UPHENO:0018390",
+ "UPHENO:0074232",
+ "UPHENO:0003799",
+ "UPHENO:0005025",
+ "HP:0000277",
+ "UPHENO:0002838",
+ "UPHENO:0002548",
+ "UBERON:0001434",
+ "UPHENO:0002761",
+ "UPHENO:0002600",
+ "UPHENO:0072200",
+ "UPHENO:0005986",
+ "UPHENO:0027008",
+ "UBERON:0010912",
+ "UPHENO:0025882",
+ "UBERON:0003458",
+ "HP:0033127",
+ "UPHENO:0003027",
+ "UPHENO:0011531",
"UBERON:0009569",
- "UPHENO:0049874",
- "BFO:0000003",
- "UPHENO:0049691",
- "HP:0009799",
- "UPHENO:0071310",
- "GO:0051179",
+ "UBERON:0003113",
+ "UPHENO:0052778",
+ "UBERON:0002514",
+ "HP:0002778",
+ "UPHENO:0002818",
+ "UBERON:0000974",
+ "UPHENO:0002694",
+ "UPHENO:0076703",
"UPHENO:0080377",
- "GO:0007275",
- "UPHENO:0014285",
- "UPHENO:0002792",
- "UBERON:0012139",
- "GO:0006810",
- "UPHENO:0025507",
- "UPHENO:0081466",
- "UPHENO:0080393",
- "UPHENO:0002570",
- "UPHENO:0005573",
- "UPHENO:0002873",
- "UPHENO:0080382",
- "UPHENO:0053456",
- "UBERON:0005944",
- "GO:0048856",
- "UPHENO:0052694",
- "HP:0001511",
- "UPHENO:0068971",
- "UPHENO:0005647",
- "UBERON:0004921",
- "UPHENO:0053330",
- "HP:0011100",
- "UPHENO:0005433",
- "UPHENO:0050068",
+ "UPHENO:0004802",
+ "HP:0003974",
+ "UBERON:0007842",
+ "HP:0009121",
+ "UPHENO:0081141",
+ "UBERON:0002529",
+ "HP:0000118",
+ "UBERON:0003975",
+ "HP:0012448",
+ "UPHENO:0002635",
+ "UPHENO:0005092",
"UPHENO:0063562",
- "UPHENO:0088186",
- "UPHENO:0005596",
- "UPHENO:0003116",
- "UPHENO:0005642",
- "UPHENO:0050106",
- "UPHENO:0003799",
- "UBERON:0004121",
- "UPHENO:0005540",
- "UPHENO:0081598",
- "UBERON:0004086",
- "HP:0006501",
- "UPHENO:0050034",
+ "HP:0000478",
+ "UBERON:0002355",
+ "GO:0008366",
+ "HP:0012638",
+ "UPHENO:0026023",
+ "UPHENO:0005008",
+ "UPHENO:0002550",
+ "UPHENO:0026640",
+ "UPHENO:0053330",
+ "UPHENO:0088116",
+ "UBERON:0005944",
+ "UBERON:0010364",
+ "UBERON:0001456",
+ "UPHENO:0069266",
+ "UBERON:0034921",
+ "UBERON:0015203",
+ "UBERON:0003462",
+ "UPHENO:0074229",
+ "UPHENO:0081585",
+ "UPHENO:0004595",
+ "UPHENO:0002731",
+ "HP:0011017",
+ "UPHENO:0002815",
+ "UPHENO:0086595",
+ "UPHENO:0083646",
+ "UPHENO:0006161",
+ "HP:0005656",
+ "HP:0009122",
+ "UPHENO:0002559",
+ "UPHENO:0087806",
+ "UBERON:0001015",
+ "HP:0008771",
+ "UBERON:0006717",
+ "UPHENO:0069161",
+ "UBERON:0001690",
+ "UBERON:0002090",
+ "UPHENO:0009356",
+ "UPHENO:0002725",
+ "UBERON:0005181",
+ "UBERON:0013522",
+ "UPHENO:0002526",
+ "UPHENO:0014865",
+ "UPHENO:0003065",
+ "UPHENO:0002525",
+ "HP:0000356",
+ "UBERON:0002386",
+ "UPHENO:0081314",
+ "UBERON:0005177",
+ "UPHENO:0008523",
+ "UPHENO:0026344",
+ "UPHENO:0014240",
+ "UBERON:0002471",
+ "HP:0012372",
+ "HP:0001776",
+ "UPHENO:0008593",
+ "UBERON:0012360",
+ "UPHENO:0009209",
+ "UPHENO:0080158",
+ "HP:0008518",
+ "UPHENO:0026940",
+ "UPHENO:0005214",
+ "UBERON:0004742",
+ "UBERON:0034923",
+ "UPHENO:0069327",
+ "GO:0031052",
+ "UBERON:0003607",
+ "UBERON:0008962",
+ "UPHENO:0002668",
+ "UPHENO:0011770",
+ "UPHENO:0002828",
+ "HP:0012210",
+ "UPHENO:0086699",
+ "GO:0032502",
+ "UPHENO:0005424",
+ "UBERON:0003606",
+ "UPHENO:0025546",
+ "UPHENO:0041226",
+ "UBERON:0003460",
+ "UPHENO:0025955",
+ "UPHENO:0050372",
+ "HP:0002589",
+ "UBERON:0006058",
+ "UBERON:0013702",
+ "UPHENO:0002928",
+ "UBERON:0000467",
+ "UPHENO:0008825",
+ "UPHENO:0011492",
"HP:0002118",
- "HP:0012639",
- "UPHENO:0076791",
- "UPHENO:0001134",
- "UPHENO:0081204",
- "UPHENO:0001303",
- "UPHENO:0004521",
- "HP:0000240",
- "UBERON:0005358",
- "HP:0031072",
- "HP:0002011",
- "HP:0009824",
- "UPHENO:0004956",
- "GO:0009790",
- "UPHENO:0004788",
- "UPHENO:0076805",
- "UPHENO:0073886",
- "HP:0000707",
- "UPHENO:0003050",
- "UPHENO:0046594",
- "UBERON:0005282",
- "UPHENO:0001072",
- "UPHENO:0081210",
- "UPHENO:0002548",
- "UPHENO:0002987",
- "HP:0031689",
- "UPHENO:0001025",
- "HP:0007364",
- "HP:0012443",
- "UBERON:0004177",
- "UPHENO:0001147",
- "UPHENO:0005029",
- "UPHENO:0063594",
- "UBERON:0000060",
- "UPHENO:0074245",
- "UPHENO:0001355",
- "UBERON:0004923",
- "UPHENO:0056134",
- "UPHENO:0011498",
- "UPHENO:0087510",
- "UPHENO:0080099",
- "UPHENO:0052778",
- "UPHENO:0009382",
- "UPHENO:0086700",
- "UBERON:0002101",
- "HP:0002012",
- "UBERON:0006048",
- "UPHENO:0025509",
- "UBERON:0004708",
- "UPHENO:0026506",
- "UPHENO:0049813",
- "HP:0006265",
- "UPHENO:0014291",
- "UPHENO:0084761",
- "UBERON:0012140",
- "UPHENO:0002708",
- "GO:0042886",
- "UBERON:0001442",
- "UPHENO:0087006",
- "HP:0001155",
- "HP:0005773",
- "UPHENO:0002733",
- "UPHENO:0075220",
- "UBERON:0011676",
- "UPHENO:0003082",
+ "UBERON:0013701",
+ "UBERON:0010708",
+ "HP:0000492",
+ "HP:0011283",
+ "UPHENO:0001001",
+ "UPHENO:0081784",
+ "HP:0009115",
+ "UBERON:0010000",
+ "UPHENO:0056250",
+ "UPHENO:0050025",
+ "UPHENO:0080165",
+ "HP:0011842",
+ "UPHENO:0008865",
+ "UPHENO:0079826",
+ "UPHENO:0025661",
+ "UPHENO:0002764",
+ "UPHENO:0008604",
+ "UPHENO:0086589",
+ "GO:0042552",
+ "HP:0000032",
+ "UPHENO:0080126",
+ "UBERON:0011582",
+ "UPHENO:0002443",
+ "HP:0010935",
+ "UPHENO:0003029",
+ "UPHENO:0076800",
+ "UPHENO:0026095",
+ "UBERON:0004288",
+ "UPHENO:0081783",
+ "UPHENO:0002568",
+ "UBERON:0000033",
+ "UPHENO:0050063",
+ "UBERON:0000153",
+ "UPHENO:0033592",
+ "UPHENO:0003025",
+ "HP:0040070",
+ "UPHENO:0018414",
+ "HP:0012145",
+ "UBERON:0004709",
+ "HP:0003221",
+ "UPHENO:0004434",
+ "UPHENO:0002963",
+ "UPHENO:0080300",
+ "UPHENO:0003004",
+ "HP:0005528",
+ "GO:0009892",
+ "UPHENO:0004494",
+ "UPHENO:0000541",
+ "UPHENO:0002844",
+ "UPHENO:0074360",
+ "UBERON:0005173",
+ "UBERON:0000154",
+ "HP:0000347",
+ "UPHENO:0074310",
+ "UPHENO:0026806",
+ "UPHENO:0002926",
+ "UBERON:0019221",
+ "UBERON:0005451",
+ "UBERON:0010323",
"UPHENO:0008668",
- "HP:0000079",
- "UPHENO:0081451",
- "CL:0000763",
- "UPHENO:0001004",
- "UPHENO:0003069",
- "HP:0009777",
- "UPHENO:0002967",
- "UPHENO:0002870",
- "HP:0005927",
- "UBERON:0006558",
- "UPHENO:0075998",
- "UPHENO:0026146",
+ "BFO:0000001",
+ "UPHENO:0002687",
+ "UBERON:0010222",
+ "UPHENO:0081581",
+ "UPHENO:0026312",
+ "UPHENO:0005104",
+ "HP:0001877",
+ "UBERON:0000073",
+ "UBERON:0010913",
+ "UPHENO:0080187",
+ "UPHENO:0076692",
+ "HP:0000925",
+ "UPHENO:0002536",
+ "UPHENO:0009163",
+ "HP:0008772",
+ "UPHENO:0002531",
+ "UPHENO:0002733",
+ "UBERON:0000063",
+ "UBERON:0001359",
+ "UBERON:0004708",
+ "UBERON:0000468",
+ "UBERON:0015021",
"UBERON:5002389",
- "GO:0032501",
- "UBERON:0007798",
- "UPHENO:0046531",
- "UBERON:5006048",
- "UBERON:0004375",
- "HP:0001167",
- "UBERON:0034925",
- "UPHENO:0002819",
- "UPHENO:0080114",
+ "UPHENO:0046552",
+ "UPHENO:0076730",
+ "UPHENO:0026183",
+ "UBERON:0005473",
+ "UBERON:0000065",
+ "UBERON:0011158",
+ "UBERON:0001007",
+ "HP:0002977",
+ "UPHENO:0086932",
+ "UPHENO:0074335",
+ "NBO:0000455",
+ "BFO:0000004",
+ "UBERON:0001032",
+ "UPHENO:0006140",
+ "UBERON:0010707",
+ "UPHENO:0002870",
+ "UBERON:0007914",
+ "UPHENO:0011536",
+ "UBERON:0005174",
+ "UPHENO:0003412",
+ "UBERON:0010313",
+ "HP:0005922",
+ "NBO:0000604",
+ "UPHENO:0011931",
+ "HP:0007360",
+ "UPHENO:0025187",
+ "UBERON:5002544",
+ "HP:0002814",
+ "UPHENO:0002832",
+ "UPHENO:0003020",
+ "UPHENO:0005016",
+ "UPHENO:0086628",
+ "UPHENO:0002969",
+ "UBERON:0010740",
+ "RO:0002577",
+ "UPHENO:0008545",
+ "UPHENO:0003084",
+ "UPHENO:0014761",
+ "UPHENO:0050784",
+ "UPHENO:0002616",
+ "HP:0000582",
+ "UBERON:0002103",
+ "UPHENO:0076740",
+ "UPHENO:0063575",
+ "UBERON:0000978",
+ "UBERON:0002104",
+ "UPHENO:0025855",
+ "GO:0048519",
+ "UPHENO:0014292",
+ "UPHENO:0027020",
+ "UPHENO:0086635",
+ "UBERON:0001708",
+ "UBERON:0011595",
+ "UPHENO:0025652",
+ "HP:0000234",
+ "UBERON:0004908",
+ "GO:0009790",
+ "UBERON:0010758",
+ "HP:0000734",
+ "HP:0040068",
+ "HP:0040064",
+ "UPHENO:0069523",
+ "UBERON:0010538",
+ "UBERON:0002387",
+ "UBERON:0001062",
+ "UPHENO:0002901",
+ "UPHENO:0002949",
+ "GO:0042592",
+ "UBERON:0004381",
+ "UPHENO:0002693",
+ "HP:0002032",
+ "HP:0000271",
+ "UBERON:0000465",
"UPHENO:0003049",
- "UBERON:0012141",
- "UPHENO:0005427",
- "UPHENO:0026640",
"UBERON:0002102",
- "UPHENO:0026108",
- "UBERON:0000153",
- "HP:0009380",
- "UBERON:0001460",
- "UBERON:0019221",
- "UBERON:0002037",
- "UBERON:0002389",
- "UPHENO:0025585",
- "UPHENO:0003093",
+ "UPHENO:0069236",
+ "UPHENO:0087006",
+ "UPHENO:0063558",
+ "HP:0012759",
+ "UPHENO:0009181",
+ "UPHENO:0003227",
+ "UPHENO:0069062",
"UPHENO:0026643",
- "HP:0011297",
- "UPHENO:0014347",
- "UPHENO:0014325",
- "UPHENO:0076803",
- "UPHENO:0003094",
- "UPHENO:0069046",
- "UBERON:0013702",
- "UPHENO:0014351",
- "UPHENO:0002661",
- "UBERON:0002465",
- "UBERON:0002417",
- "UPHENO:0014319",
- "UPHENO:0003088",
- "HP:0001743",
- "UBERON:0002106",
- "UPHENO:0087267",
- "HP:0025408",
- "UBERON:0006058",
- "UPHENO:3000003",
- "UPHENO:0011531",
- "UPHENO:0014240",
- "UBERON:0000064",
- "UPHENO:0075774",
- "UPHENO:0004173",
- "UPHENO:0003413",
- "UPHENO:0087123",
- "UPHENO:0076702",
- "HP:0100763",
- "UPHENO:0056059",
- "UPHENO:0002576",
- "GO:0023052",
- "HP:0001172",
- "UPHENO:0002969",
- "HP:0002715",
- "UPHENO:0011533",
- "UBERON:0013701",
- "UPHENO:0086172",
- "UPHENO:0002874",
- "UBERON:0034923",
- "UPHENO:0002948",
- "UPHENO:0014332",
- "UPHENO:0014287",
- "HP:0025033",
- "UPHENO:0011558",
- "HP:0002597",
- "UBERON:0001444",
- "UBERON:0005177",
- "UBERON:0000475",
- "UBERON:0015203",
- "UBERON:0005172",
- "UBERON:0017672",
- "UPHENO:0004004",
- "UPHENO:0012312",
- "UBERON:0002405",
- "UPHENO:0014244",
- "HP:0011844",
- "UPHENO:0075995",
- "UPHENO:0050121",
- "HP:0002060",
- "UPHENO:0003016",
- "UPHENO:0076812",
- "UPHENO:0005477",
- "GO:0140352"
+ "UBERON:0000993",
+ "HP:0000377",
+ "UPHENO:0004709",
+ "UBERON:5006048",
+ "HP:0000431",
+ "HP:0004378",
+ "UBERON:0004121",
+ "HP:0001883",
+ "HP:0000708"
],
"has_phenotype_closure_label": [
- "Abnormal axial skeleton morphology",
- "Microcephaly",
- "cranial skeletal system phenotype",
- "Abnormal skull morphology",
- "size of skull phenotype",
- "Aplasia/Hypoplasia involving the central nervous system",
- "Abnormality of skull size",
- "axial skeleton plus cranial skeleton",
- "postcranial axial skeletal system",
- "axial skeletal system",
- "cranial skeletal system",
"kidney hypoplasia",
- "renal system morphology phenotype",
- "kidney",
- "kidney phenotype",
- "Renal hypoplasia",
- "Abnormality of the urinary system",
+ "immune system",
+ "Abnormality of multiple cell lineages in the bone marrow",
+ "Bone marrow hypocellularity",
+ "bone marrow cell",
+ "Abnormal bone marrow cell morphology",
+ "tissue",
+ "increased size of the ectoderm-derived structure",
+ "increased width of anatomical entity",
+ "increased width of ectoderm-derived structure",
+ "trunk or cervical vertebra",
+ "vertebral element",
+ "decreased length of neck",
+ "decreased length of multicellular anatomical structure",
+ "decreased length of anatomical entity",
+ "dorsal part of neck",
+ "cervical region of vertebral column",
+ "cervical vertebra",
+ "vertebra",
+ "cervical vertebra endochondral element phenotype",
+ "vertebral element phenotype",
+ "trunk or cervical vertebra phenotype",
+ "decreased size of the organism subdivision",
+ "Microphthalmia",
+ "Abnormality of globe size",
+ "decreased size of the anatomical entity",
+ "decreased size of the anatomical structure",
+ "Aplasia/Hypoplasia affecting the eye",
+ "decreased size of the organ",
+ "decreased size of the material anatomical entity",
+ "camera-type eye morphology phenotype",
+ "Abnormality of the orbital region",
+ "palpebral fissure phenotype",
+ "eyelid phenotype",
+ "eyelid morphology phenotype",
+ "palpebral fissure",
+ "Abnormality of the ocular adnexa",
+ "Abnormal eyelid morphology",
+ "ocular adnexa",
+ "ensheathment of neurons phenotype",
+ "system development",
+ "cell differentiation",
+ "cell development",
+ "central nervous system myelination phenotype",
+ "cellular process phenotype",
+ "ensheathment of neurons",
+ "cellular developmental process",
+ "delayed ensheathment of neurons",
+ "nervous system development",
+ "myelination",
+ "axon ensheathment phenotype",
+ "myelination phenotype",
+ "oligodendrocyte differentiation",
+ "Delayed CNS myelination",
+ "orifice phenotype",
+ "closing of the anatomical conduit",
+ "ectoderm-derived structure atresia",
+ "increased width of material anatomical entity",
+ "closing of the ectoderm-derived structure",
+ "orifice atresia",
+ "Anal atresia",
+ "anus atresia",
+ "anus phenotype",
+ "anus morphology phenotype",
+ "Abnormality of the anus",
+ "absent multicellular anatomical structure in the renal system",
+ "absent abdomen element in the renal system",
+ "number of anatomical enitites of type cavitated compound organ phenotype",
+ "upper urinary tract phenotype",
+ "Abnormality of the upper urinary tract",
+ "absent organ in the renal system",
+ "absent trunk region element",
+ "absent anatomical entity in the renal system",
+ "increased width of anatomical structure",
+ "absent material anatomical entity in the renal system",
+ "absent cavitated compound organ",
+ "kidney morphology phenotype",
+ "number of anatomical enitites of type kidney phenotype",
+ "number of anatomical enitites of type compound organ phenotype",
+ "cavitated compound organ phenotype",
+ "number of anatomical enitites of type abdominal segment element phenotype",
+ "absent abdominal segment element",
+ "absent compound organ in the renal system",
+ "absent abdominal segment element in the renal system",
+ "absent trunk region element in the renal system",
+ "Renal agenesis",
+ "absent anatomical structure in the renal system",
+ "abdomen element phenotype",
+ "Localized skin lesion",
+ "nasal bridge morphology phenotype",
+ "Hyperpigmentation of the skin",
+ "increased pigmentation",
+ "increased qualitatively biological_process",
+ "Abnormality of the skin",
+ "Cafe-au-lait spot",
+ "skin of body morphology phenotype",
+ "integumental system",
+ "skin of body",
+ "Abnormal skin morphology",
+ "skin of body phenotype",
+ "Macule",
+ "Abnormality of the integument",
+ "integumental system phenotype",
+ "pigmentation phenotype",
+ "increased pigmentation in skin of body",
+ "Abnormal nasal bridge morphology",
+ "Irregular hyperpigmentation",
+ "erythroid lineage cell",
+ "Abnormal erythrocyte morphology",
+ "eukaryotic cell",
+ "oxygen accumulating cell",
+ "erythroid lineage cell morphology phenotype",
+ "erythrocyte morphology phenotype",
+ "erythrocyte",
+ "hemolymphoid system",
+ "Abnormality of blood and blood-forming tissues",
+ "Slanting of the palpebral fissure",
+ "Microtia",
+ "axon ensheathment in central nervous system",
+ "increased size of the immaterial anatomical entity",
+ "anatomical line phenotype",
+ "vision/eye phenotype",
+ "Abnormality of the eye",
+ "absent compound organ",
+ "non-material anatomical boundary phenotype",
+ "central nervous system development",
+ "increased size of the non-material anatomical boundary",
+ "location of eyeball of camera-type eye phenotype",
+ "camera-type eye",
+ "visual system",
+ "absent cavitated compound organ in the renal system",
+ "non-material anatomical boundary",
+ "anatomical entity length phenotype",
+ "eyeball of camera-type eye",
+ "size of anatomical entity phenotype",
+ "eye",
+ "visual system phenotype",
+ "increased length of the non-material anatomical boundary",
+ "increased length of the anatomical entity",
+ "flat anatomical entity",
+ "external nose morphology phenotype",
+ "neck morphology phenotype",
+ "Abnormal nasal morphology",
+ "anatomical point",
+ "nose tip",
+ "Abnormality of the nose",
+ "decreased length of anatomical structure",
+ "nose tip phenotype",
+ "organ component layer",
+ "anatomical wall",
+ "increased number of ventricle of nervous system in the cerebrospinal fluid",
+ "increased number of anatomical entity in the cerebrospinal fluid",
+ "olfactory organ phenotype",
+ "brain ventricle phenotype",
+ "number of anatomical enitites of type ectoderm-derived structure phenotype",
+ "ventricle of nervous system",
+ "organ component layer phenotype",
+ "decreased length of organism subdivision",
+ "increased number of ventricle of nervous system",
+ "bodily fluid phenotype",
+ "increased number of organ component layer in the cerebrospinal fluid",
+ "Hydrocephalus",
+ "bodily fluid",
+ "glial cell development",
+ "increased number of material anatomical entity",
+ "increased number of organ component layer",
+ "increased number of ectoderm-derived structure in the cerebrospinal fluid",
+ "organism substance phenotype",
+ "increased number of brain ventricle",
+ "ventricle of nervous system phenotype",
+ "ventricular system of central nervous system",
+ "cervical region",
+ "brain ventricle/choroid plexus phenotype",
+ "increased number of anatomical structure",
+ "increased number of anatomical entity",
+ "increased number of multicellular anatomical structure in the cerebrospinal fluid",
+ "increased number of multicellular anatomical structure",
+ "organism substance",
+ "increased number of ectoderm-derived structure",
+ "brain ventricle",
+ "brain ventricle morphology phenotype",
+ "increased number of organ part",
+ "delayed central nervous system myelination",
+ "respiratory tract",
+ "proximo-distal subdivision of respiratory tract",
+ "tracheobronchial tree",
+ "respiratory system physiology phenotype",
+ "trachea",
+ "lower respiratory tract",
+ "respiratory system",
+ "Tracheoesophageal fistula",
+ "respiratory system phenotype",
+ "respiratory airway",
+ "male reproductive organ",
+ "Abnormal penis morphology",
+ "intromittent organ phenotype",
+ "male reproductive system phenotype",
+ "penis hypoplasia",
+ "Hypoplasia of penis",
+ "Micropenis",
+ "external genitalia phenotype",
+ "penis",
+ "External genital hypoplasia",
+ "intromittent organ",
+ "male reproductive system",
+ "Abnormal external genitalia",
+ "Abnormal male external genitalia morphology",
+ "Abnormality of the male genitalia",
+ "secondary palate",
+ "oral cavity",
+ "orifice",
+ "Abnormality of the face",
+ "midface",
+ "opening of the anatomical entity",
+ "midface morphology phenotype",
+ "incomplete closing of the anatomical entity",
+ "incomplete closing of the structure with developmental contribution from neural crest",
+ "cerebrospinal fluid morphology phenotype",
+ "incomplete closing of the multicellular anatomical structure",
+ "secondary palate morphology phenotype",
+ "anatomical space phenotype",
+ "increased biological_process in skin of body",
+ "increased number of brain ventricle/choroid plexus in the cerebrospinal fluid",
+ "oral cavity phenotype",
+ "Abnormal respiratory system morphology",
+ "upper jaw region",
+ "incomplete closing of the roof of mouth",
+ "anatomical space",
+ "Abnormality of skin pigmentation",
+ "incomplete closing of the multi-tissue structure",
+ "Abnormal oral morphology",
+ "anatomical cavity",
"renal system",
- "compound organ phenotype",
- "Abnormal renal morphology",
- "cavitated compound organ",
- "midface hypoplasia",
- "face",
- "craniocervical region phenotype",
- "craniofacial/craniocervical phenotype",
- "face phenotype",
- "cell",
- "Abnormal cellular phenotype",
- "bone marrow",
- "bone cell",
- "hematopoietic cell",
- "Megakaryocyte dysplasia",
- "cell phenotype",
- "Abnormality of the kidney",
- "bone marrow cell",
- "Abnormal cell morphology",
- "cerebellum morphology phenotype",
- "hindbrain phenotype",
- "formed regional part of brain",
- "segmental subdivision of hindbrain phenotype",
+ "midface phenotype",
+ "Abnormal oral cavity morphology",
+ "incomplete closing of the secondary palate",
+ "incomplete closing of the material anatomical entity",
+ "hindbrain",
+ "cerebellum",
"organ subunit",
- "malformed anatomical entity",
- "Chiari malformation",
- "cerebellum phenotype",
+ "Aplasia/Hypoplasia involving the central nervous system",
+ "Abnormality of the palpebral fissures",
+ "hindbrain morphology phenotype",
+ "brain phenotype",
+ "Upslanted palpebral fissure",
+ "Aplasia/Hypoplasia of the cerebellum",
+ "metencephalon morphology phenotype",
+ "cerebellum hypoplasia",
+ "multi-tissue structure phenotype",
+ "absent abdomen element",
+ "organ part phenotype",
+ "central nervous system phenotype",
+ "decreased size of the ectoderm-derived structure",
+ "hematopoietic system phenotype",
+ "orbital region phenotype",
+ "anatomical structure physiology phenotype",
"Abnormal hindbrain morphology",
- "formed multi-tissue structure",
+ "Eumetazoa",
+ "Abnormal upper limb bone morphology",
+ "regional part of brain",
+ "simple eye",
+ "digit morphology phenotype",
+ "central nervous system",
+ "Abnormal cerebellum morphology",
+ "absent lateral structure in the renal system",
+ "Cerebellar hypoplasia",
+ "cerebellum phenotype",
+ "skeleton of limb phenotype",
+ "segmental subdivision of hindbrain phenotype",
+ "cerebellum morphology phenotype",
+ "Abnormal palate morphology",
+ "decreased anatomical structure development",
+ "Abnormality of digestive system physiology",
+ "digestive system physiology phenotype",
+ "Abdominal symptom",
+ "upper digestive tract",
+ "Abnormality of the gastrointestinal tract",
+ "material anatomical entity",
+ "closing of the thoracic segment organ",
+ "nose phenotype",
+ "Abnormal esophagus morphology",
"segmental subdivision of nervous system",
- "Cerebellar malformation",
- "Abnormal bone marrow cell morphology",
- "metencephalon morphology phenotype",
- "brain white matter phenotype",
- "brain white matter degeneration",
- "Abnormal periventricular white matter morphology",
- "cerebral hemisphere white matter degeneration",
- "brain white matter morphology phenotype",
- "telencephalon phenotype",
- "multi cell part structure degeneration",
- "white matter of forebrain degeneration",
- "Abnormal cerebral white matter morphology",
- "anatomical entity degeneration",
- "central nervous system cell part cluster degeneration",
- "white matter of telencephalon phenotype",
- "white matter of forebrain",
- "Atrophy/Degeneration affecting the central nervous system",
- "Abnormal cerebral subcortex morphology",
- "white matter of forebrain phenotype",
- "cerebral hemisphere morphology phenotype",
- "white matter",
- "white matter of telencephalon degeneration",
- "anatomical entity degeneration in central nervous system",
- "cerebral hemisphere white matter",
- "cerebral subcortex",
- "white matter degeneration",
- "brain white matter",
- "Abnormal cerebral morphology",
- "Hypopituitarism",
- "decreased nitrogen compound transport",
- "reproductive system morphology phenotype",
- "Abnormal forebrain morphology",
- "decreased qualitatively localization",
- "growth hormone secretion phenotype",
- "bodily fluid",
- "decreased establishment of localization",
- "decreased qualitatively nitrogen compound transport",
- "Abnormal circulating hormone concentration",
- "peptide transport phenotype",
- "gland",
+ "thoracic segment organ atresia",
+ "number of anatomical enitites of type trunk region element phenotype",
+ "eye phenotype",
+ "closing of the organ part",
+ "closing of the organ",
+ "regulation of gene expression",
+ "Abnormal digestive system morphology",
+ "brain ventricle/choroid plexus",
+ "anatomical structure atresia",
+ "Abnormal sacrum morphology",
+ "alimentary part of gastrointestinal system",
+ "absent skeletal element",
+ "organ atresia",
+ "decreased biological_process",
+ "thoracic segment organ",
+ "esophagus",
+ "incomplete closing of the neural crest-derived structure",
+ "musculoskeletal system phenotype",
+ "subdivision of tube atresia",
+ "closing of the anatomical system",
+ "increased size of the material anatomical entity",
+ "digestive system element atresia",
+ "thoracic cavity element phenotype",
+ "programmed DNA elimination",
+ "material anatomical entity atresia",
+ "aplasia or hypoplasia of manual digit 1",
+ "alimentary part of gastrointestinal system atresia",
+ "subdivision of digestive tract atresia",
+ "absent mesoderm-derived structure",
+ "negative regulation of biological process phenotype",
+ "Abnormality of chromosome stability",
+ "anatomical wall phenotype",
+ "regulation of cellular process",
+ "negative regulation of biological process",
+ "limb",
+ "Chromosomal breakage induced by crosslinking agents",
+ "digit 1",
+ "programmed DNA elimination by chromosome breakage",
+ "homeostatic process",
+ "male organism phenotype",
+ "genitourinary system phenotype",
+ "Chromosome breakage",
+ "regulation of biological process",
+ "absent multicellular anatomical structure in the head",
+ "regulation of macromolecule biosynthetic process",
+ "negative regulation of macromolecule metabolic process",
+ "cell",
+ "Abnormality of the digestive system",
+ "negative regulation of macromolecule biosynthetic process",
+ "eyelid",
+ "increased biological_process",
+ "obsolete cell",
+ "Abnormal cellular physiology",
+ "postcranial axial skeleton phenotype",
+ "regulation of cellular metabolic process phenotype",
+ "number of anatomical enitites of type abdomen element phenotype",
+ "thoracic segment organ phenotype",
+ "regulation of macromolecule biosynthetic process phenotype",
+ "Hypertelorism",
+ "Abnormal morphology of the radius",
+ "regulation of metabolic process",
+ "programmed DNA elimination by chromosome breakage phenotype",
+ "closing of the anatomical entity",
+ "regulation of gene expression phenotype",
+ "regulation of macromolecule metabolic process",
+ "negative regulation of metabolic process",
+ "Abnormality of metabolism/homeostasis",
+ "Global developmental delay",
+ "reproductive system phenotype",
+ "oviduct phenotype",
+ "brain",
+ "anatomical entity atresia",
+ "Abnormal nasal tip morphology",
+ "absent uterus",
+ "internal genitalia",
+ "Aplasia/Hypoplasia of the radius",
+ "Aplasia/hypoplasia involving bones of the hand",
+ "female reproductive organ",
+ "internal female genitalia morphology phenotype",
+ "tube",
+ "thoracic cavity element",
"genitourinary system",
- "cellular organisms",
- "establishment of localization",
- "Anterior hypopituitarism",
- "gland of diencephalon phenotype",
- "tissue",
- "diencephalon phenotype",
- "decreased qualitatively secretion",
- "decreased qualitatively signal release",
- "Eumetazoa",
- "telencephalon",
- "diencephalon",
- "nitrogen compound transport",
- "structure with developmental contribution from neural crest",
+ "brain morphology phenotype",
+ "Aplasia/hypoplasia involving bones of the extremities",
+ "bone of jaw phenotype",
+ "mesoderm-derived structure phenotype",
+ "reproductive system",
+ "ocular adnexa phenotype",
+ "proximo-distal subdivision of respiratory tract phenotype",
+ "esophagus phenotype",
+ "absent organ part in the female reproductive system",
+ "absent subdivision of tube",
+ "female reproductive system phenotype",
+ "body proper",
+ "Abnormal morphology of female internal genitalia",
+ "aplasia or hypoplasia of cerebellum",
+ "Delayed myelination",
+ "head bone morphology phenotype",
+ "number of anatomical enitites of type subdivision of tube phenotype",
+ "abdomen",
+ "forelimb zeugopod skeleton",
+ "regulation of cellular biosynthetic process phenotype",
+ "Abnormal reproductive system morphology",
+ "external nose phenotype",
+ "growth",
"reproductive structure phenotype",
- "cellular process phenotype",
- "Abnormal megakaryocyte morphology",
- "Abnormality of the endocrine system",
- "cell communication",
- "Abnormality of the genitourinary system",
- "multi cell part structure phenotype",
- "material anatomical entity physiology phenotype",
- "decreased hormone secretion",
- "root",
- "structure with developmental contribution from neural crest phenotype",
- "amide transport phenotype",
- "decreased secretion in pituitary gland",
- "biological_process in nervous system phenotype",
- "cerebral hemisphere",
- "growth hormone secretion",
- "decreased qualitatively biological_process in central nervous system",
- "Metazoa",
- "regional part of nervous system",
- "chemical entity",
- "organism",
- "localization",
+ "absent anatomical structure in the forelimb",
+ "absent subdivision of oviduct in the female reproductive system",
+ "Abnormal location of ears",
+ "shape anatomical entity",
+ "uterus phenotype",
+ "Aplasia/Hypoplasia of the external ear",
"cellular process",
- "Abnormal pituitary gland morphology",
+ "excretory system",
+ "internal genitalia phenotype",
+ "absent multicellular anatomical structure in the female reproductive system",
+ "Positional foot deformity",
+ "pelvic region element",
+ "absent reproductive structure",
+ "manual digit 1 or 5",
+ "absent anatomical structure in the reproductive system",
+ "Aplasia of the uterus",
+ "internal female genitalia",
+ "oviduct",
+ "negative regulation of cellular process phenotype",
+ "skeletal element phenotype",
+ "female reproductive system",
+ "obsolete regulation of cellular biosynthetic process",
"upper urinary tract",
- "decreased growth hormone secretion",
- "pituitary gland phenotype",
- "reproductive gland phenotype",
- "reproductive gland",
- "forebrain",
- "decreased amide transport",
- "decreased qualitatively regulation of biological quality",
- "transport phenotype",
- "localization phenotype",
- "glandular system",
- "Abnormal radial ray morphology",
- "haemolymphatic fluid",
- "transport",
- "peptide secretion phenotype",
- "Abnormal endocrine physiology",
- "anatomical entity hypoplasia in face",
- "organism substance",
- "decreased qualitatively biological regulation",
- "gland morphology phenotype",
- "peptide secretion",
- "amide transport",
- "hormone secretion",
- "genitourinary system phenotype",
- "endocrine gland phenotype",
- "decreased hormone transport",
- "Abnormal growth hormone level",
- "signal release phenotype",
- "secretion phenotype",
- "reproductive organ phenotype",
- "blood",
- "Decreased response to growth hormone stimulation test",
- "decreased qualitatively secretion by cell",
- "endocrine system physiology phenotype",
- "endocrine gland morphology phenotype",
- "multi-tissue structure",
- "Abnormality of the genital system",
- "skeleton",
- "organ phenotype",
+ "male organism",
+ "absent reproductive structure in the reproductive system",
+ "female reproductive organ morphology phenotype",
+ "absent material anatomical entity in the reproductive system",
+ "Abnormality of the female genitalia",
+ "dentary",
+ "absent subdivision of oviduct",
+ "anatomical cavity phenotype",
+ "absent anatomical structure in the female reproductive system",
"craniocervical region",
- "number of anatomical enitites of type trunk region element phenotype",
+ "Abnormality of the genital system",
+ "absent subdivision of tube in the female reproductive system",
+ "Hypoplastic male external genitalia",
+ "disconnected anatomical group",
+ "female organism",
+ "absent trunk region element in the multicellular organism",
+ "Abnormal internal genitalia",
+ "trunk bone phenotype",
+ "appendicular skeleton morphology phenotype",
+ "absent long bone",
+ "Aplasia/Hypoplasia involving the vertebral column",
+ "delayed myelination",
+ "simple eye phenotype",
+ "zeugopodial skeleton",
+ "abdominal segment element phenotype",
+ "abdominal segment of trunk",
+ "Renal hypoplasia",
+ "respiratory system morphology phenotype",
+ "Metazoa",
+ "bone of dorsum phenotype",
+ "negative regulation of macromolecule metabolic process phenotype",
+ "reproductive organ phenotype",
+ "subdivision of trunk phenotype",
+ "anatomical collection phenotype",
+ "non-connected functional system",
+ "abdominal segment bone",
+ "fused sacrum",
+ "oligodendrocyte development",
+ "bony pelvis",
+ "bone of jaw",
+ "abdominal segment element",
+ "subdivision of vertebral column phenotype",
+ "sacral region of vertebral column phenotype",
+ "hematopoietic cell",
+ "internal female genitalia phenotype",
+ "subdivision of trunk",
+ "roof of mouth morphology phenotype",
+ "limb phenotype",
+ "subdivision of oviduct",
+ "cervical vertebra endochondral element",
+ "dorsal region element",
+ "thoracic cavity element atresia",
+ "absent bone of free limb or fin in the limb",
+ "Aplasia/Hypoplasia of the sacrum",
+ "developmental process phenotype",
+ "absent reproductive structure in the female reproductive system",
+ "decreased size of the multicellular anatomical structure",
+ "number of anatomical enitites of type organ part phenotype",
+ "aplasia or hypoplasia of fused sacrum",
+ "dermal skeletal element phenotype",
+ "Aplasia/Hypoplasia of the ear",
+ "absent subdivision of head in the head",
+ "regulation of metabolic process phenotype",
+ "absent anatomical entity in the head",
+ "absent anatomical structure in the head",
+ "negative regulation of cellular process",
+ "absent anatomical entity in the ear",
+ "increased length of the immaterial anatomical entity",
+ "absent anatomical entity in the female reproductive system",
+ "aplasia or hypoplasia of radius bone",
+ "Anotia",
+ "absent multicellular anatomical structure in the skeletal system",
+ "digit 1 or 5",
+ "decreased size of the eyeball of camera-type eye",
+ "viscus phenotype",
+ "axial skeleton plus cranial skeleton phenotype",
+ "manual digit",
+ "increased size of the anatomical structure",
+ "Abnormal neck morphology",
+ "decreased qualitatively biological_process",
+ "digit",
+ "shape nose tip",
+ "manual digit morphology in the manus phenotype",
+ "Abnormal renal morphology",
+ "multicellular anatomical structure phenotype",
+ "negative regulation of metabolic process phenotype",
+ "subdivision of vertebral column",
+ "autopodial extension phenotype",
+ "manual digit 1 morphology phenotype",
+ "Abnormality of the hand",
+ "autopodial skeleton",
+ "lateral structure",
+ "sacral region of vertebral column",
+ "bone of dorsum",
+ "jaw region",
+ "Finger aplasia",
+ "anatomical entity morphology in the manus phenotype",
+ "organ system subdivision phenotype",
+ "acropodium region",
+ "digitopodium region",
+ "aplasia or hypoplasia of eyeball of camera-type eye",
+ "manus",
+ "manual digit 1",
+ "All",
+ "skeleton of manus",
+ "absent digit",
+ "Absent thumb",
+ "number of anatomical enitites of type multicellular anatomical structure phenotype",
+ "aplasia or hypoplasia of vertebral column",
+ "absent organism subdivision",
+ "digit 1 or 5 phenotype",
+ "manus phenotype",
+ "increased number of anatomical structure in the cerebrospinal fluid",
+ "digit phenotype",
+ "digit plus metapodial segment",
+ "Gastrointestinal atresia",
+ "decreased embryo development",
+ "central nervous system myelination",
+ "Intrauterine growth retardation",
+ "skeleton of limb",
+ "decreased qualitatively multicellular organism development",
+ "craniocervical region morphology phenotype",
+ "esophagus morphology phenotype",
+ "absent forelimb bone in the limb",
+ "developmental process",
+ "decreased multicellular organism development",
+ "hematopoietic system",
+ "Hypoplastic sacrum",
+ "vertebral column phenotype",
+ "decreased qualitatively anatomical structure development",
+ "anatomical entity hypoplasia in face",
+ "multicellular organism development",
+ "nasal bridge phenotype",
+ "decreased qualitatively embryo development",
+ "transudate",
+ "multicellular organism development phenotype",
+ "Abnormality of the cervical spine",
+ "embryo development rate phenotype",
+ "developmental process rate phenotype",
+ "female reproductive organ phenotype",
+ "incomplete closing of the anatomical structure",
+ "subdivision of head phenotype",
+ "forelimb zeugopod bone",
+ "delayed growth",
+ "curvature anatomical entity",
+ "segment of manus",
+ "Growth delay",
+ "absent endochondral bone in the limb",
+ "delayed biological_process",
+ "growth phenotype",
+ "subdivision of digestive tract phenotype",
+ "forelimb zeugopod morphology phenotype",
+ "Abnormal volitional state",
+ "Abnormality of the nervous system",
+ "Disinhibition",
+ "Attention deficit hyperactivity disorder",
+ "decreased multicellular organismal process",
+ "Atypical behavior",
+ "Reduced attention regulation",
+ "decreased behavior",
+ "nervous system process",
+ "Abnormal respiratory system physiology",
+ "esophagus atresia",
+ "paired limb/fin segment phenotype",
+ "radius endochondral element",
+ "behavior process",
+ "regulation of cellular process phenotype",
+ "Abnormality of the kidney",
+ "biological_process",
+ "sacral region",
+ "process",
+ "Short attention span",
+ "absent organism subdivision in the multicellular organism",
+ "dorsum",
+ "absent limb endochondral element in the forelimb",
+ "Abnormally increased volition",
+ "neurogenesis",
+ "nervous system physiology phenotype",
+ "delayed axon ensheathment in central nervous system",
+ "nervous system",
+ "Short neck",
+ "camera-type eye phenotype",
+ "absent radius bone",
+ "multicellular organismal process",
+ "Abnormality of mental function",
+ "Aplasia/Hypoplasia of the thumb",
+ "anatomical entity physiology phenotype",
+ "system process",
+ "absent bone of appendage girdle complex",
+ "Recurrent maladaptive behavior",
+ "attention behavior",
+ "ventricular system of brain",
+ "absent forelimb long bone in the forelimb",
+ "digit 1 plus metapodial segment",
+ "Unilateral renal agenesis",
+ "Abnormal tracheal morphology",
+ "material anatomical entity physiology phenotype",
+ "Hyperactivity",
+ "trunk phenotype",
+ "anatomical system physiology phenotype",
+ "multi organ part structure",
+ "metabolic process",
+ "decreased social inhibition",
+ "multi organ part structure phenotype",
+ "anatomical conduit atresia",
+ "cognition",
+ "social behavior",
+ "Abnormal external nose morphology",
+ "female reproductive system morphology phenotype",
+ "cognitive behavior",
+ "uterus",
+ "social inhibition",
+ "sensation behavior",
+ "cervical vertebra phenotype",
+ "aplasia or hypoplasia of uterus",
+ "Talipes equinovarus",
+ "biological_process rate phenotype",
+ "kidney",
+ "Abnormality of the neck",
+ "Abnormal pinna morphology",
+ "negative regulation of biosynthetic process",
+ "compound organ phenotype",
+ "neck phenotype",
+ "closing of the material anatomical entity",
+ "neck",
+ "absent organ part",
+ "Abnormal limb bone morphology",
+ "arm",
+ "Abnormal nervous system morphology",
+ "membrane bone",
+ "pectoral appendage",
"trunk region element phenotype",
+ "decreased qualitatively behavior",
+ "absent long bone in the forelimb",
+ "anatomical line between pupils",
+ "absent multicellular anatomical structure in the limb",
+ "vertebra phenotype",
+ "abdomen element",
+ "Aplasia/hypoplasia involving bones of the upper limbs",
+ "biological regulation phenotype",
+ "absent bone element in the limb",
+ "limb skeleton subdivision phenotype",
+ "musculature of body",
+ "musculature of body phenotype",
"bone of free limb or fin phenotype",
- "decreased length of forelimb endochondral element",
- "musculature phenotype",
- "Short long bone",
- "arm bone phenotype",
- "process",
- "bone of appendage girdle complex phenotype",
- "autopodial skeleton",
- "hindbrain morphology phenotype",
- "decreased length of arm bone",
- "Finger aplasia",
- "cerebral hemisphere white matter morphology phenotype",
- "decreased size of the bone of free limb or fin",
- "decreased length of skeletal element",
- "long bone phenotype",
- "paired limb/fin skeleton",
- "metencephalon",
- "decreased size of the anatomical structure in the pectoral complex",
- "forelimb skeleton phenotype",
- "anatomical entity length phenotype",
- "zeugopod phenotype",
+ "increased width of nasal bridge",
+ "Absent forearm bone",
+ "absent organ",
+ "absent limb bone in the forelimb",
+ "long bone morphology phenotype",
+ "absent material anatomical entity in the ear",
+ "appendicular skeleton phenotype",
+ "metencephalon phenotype",
+ "blood cell phenotype",
+ "bone of pectoral complex phenotype",
"absent anatomical structure",
- "decreased qualitatively hormone secretion",
- "decreased biological_process in multicellular organism",
- "appendicular skeleton morphology phenotype",
- "radius bone",
- "subdivision of skeleton phenotype",
- "Abnormality of the immune system",
- "gland phenotype",
- "subdivision of skeletal system",
- "Aplasia/Hypoplasia of the thumb",
- "decreased peptide hormone secretion",
- "decreased size of the mesoderm-derived structure",
+ "absent mesoderm-derived structure in the multicellular organism",
+ "absent material anatomical entity in the head",
+ "anatomical structure development",
+ "increased number of material anatomical entity in the cerebrospinal fluid",
"zeugopod",
- "decreased size of the multicellular anatomical structure in the pectoral complex",
- "signaling",
- "cell-cell signaling",
- "size of anatomical entity phenotype",
- "multicellular organism development",
- "organ component layer",
- "mesoderm-derived structure phenotype",
- "decreased qualitatively peptide transport",
- "absent material anatomical entity",
- "Abnormal forearm morphology",
- "increased number of anatomical entity",
- "Absent thumb",
- "decreased qualitatively export from cell",
- "limb endochondral element",
- "Aplasia/Hypoplasia of the radius",
- "decreased size of the endochondral bone",
- "craniocervical region morphology phenotype",
- "absent anatomical structure in the forelimb",
- "number of anatomical enitites of type mesoderm-derived structure phenotype",
- "regional part of nervous system phenotype",
- "Abnormal morphology of the radius",
- "limb",
- "decreased qualitatively amide transport",
- "musculature",
- "absent manual digit",
- "spleen",
- "absent organism subdivision",
- "subdivision of skeleton",
- "radius endochondral element",
- "regulation of hormone levels phenotype",
- "decreased size of the multicellular anatomical structure",
- "skull morphology phenotype",
- "limb long bone",
- "anatomical entity morphology in the manus phenotype",
- "decreased qualitatively hormone transport",
- "hemopoietic organ morphology phenotype",
- "upper limb segment phenotype",
- "biological_process in central nervous system phenotype",
- "biological_process phenotype",
- "gland of diencephalon",
- "absent autopodial extension",
- "radius bone morphology phenotype",
- "head phenotype",
- "anatomical entity",
- "paired limb/fin phenotype",
- "skull phenotype",
- "decreased size of the anatomical entity",
- "Aplasia/hypoplasia of the extremities",
- "decreased size of the anatomical entity in the pectoral complex",
- "organism subdivision phenotype",
- "decreased biological_process in pituitary gland",
- "increased number of mesoderm-derived structure",
- "anatomical entity morphology in the appendage girdle complex phenotype",
- "anatomical conduit phenotype",
- "Abnormality of the spleen",
- "decreased size of the long bone",
- "absent multicellular anatomical structure in the limb",
- "arm bone",
- "occurrent",
- "material anatomical entity degeneration",
- "anatomical entity physiology phenotype",
- "multi-limb segment region",
- "forelimb zeugopod",
- "limb long bone phenotype",
- "forelimb endochondral element",
- "white matter of telencephalon",
- "Abnormal diencephalon morphology",
- "lateral structure",
- "skeletal system phenotype",
- "Growth abnormality",
- "megakaryocyte",
- "bone of pectoral complex morphology phenotype",
- "abdomen",
- "appendage phenotype",
- "digit plus metapodial segment",
- "decreased length of organ",
- "Abnormal small intestine morphology",
+ "Abnormality of the mouth",
+ "absent material anatomical entity in the multicellular organism",
+ "pelvic region element phenotype",
+ "decreased rate of behavior process",
+ "dentary phenotype",
+ "subdivision of organism along appendicular axis phenotype",
+ "absent anatomical entity in the limb",
+ "external soft tissue zone phenotype",
"aplasia or hypoplasia of manual digit",
- "decreased length of multicellular anatomical structure",
- "Abnormal spleen morphology",
- "Abnormal skeletal morphology",
- "decreased length of anatomical entity",
- "alimentary part of gastrointestinal system atresia",
- "decreased developmental process",
- "multi-limb segment region phenotype",
- "digit 1 or 5 phenotype",
- "Renal hypoplasia/aplasia",
- "limb segment phenotype",
- "upper limb segment",
- "number of anatomical enitites of type material anatomical entity phenotype",
- "bone of pectoral complex",
- "formed multicellular anatomical structure",
- "decreased biological regulation",
- "increased size of the ventricle of nervous system",
- "digestive system",
- "increased number of abdominal segment element",
- "establishment of localization phenotype",
- "decreased length of bone element",
- "skeletal element phenotype",
- "appendage girdle complex",
- "subdivision of tube",
- "Abnormality of the upper urinary tract",
- "anatomical entity morphology in the alimentary part of gastrointestinal system phenotype",
- "secretion by cell",
- "forelimb zeugopod skeleton",
- "digit 1 or 5",
- "forelimb",
- "increased number of abdominal viscera",
- "anatomical structure phenotype",
- "limb skeleton subdivision",
- "white matter phenotype",
- "segment of manus",
- "organ part",
- "forebrain morphology phenotype",
- "appendicular skeleton",
- "Abnormality of the head",
- "multi cell part structure",
- "Abnormal gastrointestinal tract morphology",
- "anatomical entity morphology in the pectoral complex phenotype",
- "intestine morphology phenotype",
- "skeleton of pectoral complex",
- "decreased length of anatomical structure",
- "subdivision of digestive tract atresia",
- "digit 1 plus metapodial segment",
- "cardiovascular system",
- "midface phenotype",
- "reproductive organ",
- "multicellular anatomical structure phenotype",
- "increased number of hemopoietic organ",
- "closing of the subdivision of digestive tract",
- "Neurodegeneration",
- "material anatomical entity atresia",
- "duodenum phenotype",
- "reproductive gland morphology phenotype",
- "brain morphology phenotype",
- "skeleton phenotype",
- "intestine atresia",
- "phenotype",
- "decreased length of forelimb bone",
+ "absent bone of appendage girdle complex in the forelimb",
+ "jaw skeleton morphology phenotype",
+ "myeloid cell",
+ "absent limb endochondral element in the limb",
"digestive system phenotype",
- "Upper limb undergrowth",
- "quality",
- "Leukoencephalopathy",
- "decreased size of the bone of pectoral complex",
- "increased number of spleen",
- "forelimb morphology phenotype",
- "increased size of the ectoderm-derived structure",
- "number of anatomical enitites of type abdomen element phenotype",
- "anatomical entity phenotype",
- "closing of the material anatomical entity",
- "embryo development phenotype",
- "musculature of body",
- "duodenum morphology phenotype",
- "limb segment",
- "Abnormality of the face",
- "continuant",
+ "Aplasia/hypoplasia involving forearm bones",
+ "immaterial anatomical entity",
+ "absent organ in the limb",
+ "absent organ in the multicellular organism",
+ "increased size of the anatomical entity",
"anatomical conduit",
- "closing of the organ part",
- "manual digit plus metapodial segment",
- "pectoral appendage skeleton",
- "telencephalon morphology phenotype",
- "pituitary gland morphology phenotype",
- "ectoderm-derived structure degeneration",
- "decreased multicellular organismal process",
- "taxon specific phenotype",
+ "Abnormal forearm bone morphology",
+ "Abnormality of globe location",
+ "anatomical point phenotype",
+ "neural crest-derived structure",
+ "Abnormality of the outer ear",
+ "multicellular organism phenotype",
+ "Abnormality of limb bone",
+ "segmental subdivision of hindbrain",
+ "absent limb bone",
+ "anus",
+ "nose",
+ "absent anatomical entity in the reproductive system",
+ "location of external ear phenotype",
+ "forelimb zeugopod bone morphology phenotype",
+ "closing of the trunk region element",
+ "absent bone element",
+ "multi-tissue structure",
+ "segment of autopod",
+ "delayed axon ensheathment",
+ "anatomical line",
+ "increased number of organ part in the cerebrospinal fluid",
+ "tube phenotype",
+ "forelimb skeleton",
+ "limb skeleton subdivision",
+ "negative regulation of gene expression phenotype",
+ "nose tip morphology phenotype",
+ "tracheobronchial tree morphology phenotype",
+ "facial skeleton phenotype",
+ "bone of free limb or fin",
+ "irregular bone phenotype",
+ "absent limb long bone in the forelimb",
+ "number of anatomical enitites of type bone element phenotype",
+ "closing of the multicellular anatomical structure",
+ "female organism phenotype",
+ "phenotype",
+ "absent forelimb endochondral element",
+ "forelimb zeugopod",
+ "facial skeleton morphology phenotype",
+ "ectoderm-derived structure",
+ "external ear hypoplasia",
+ "absent skeletal element in the limb",
+ "absent material anatomical entity",
+ "axon ensheathment in central nervous system phenotype",
+ "absent radius endochondral element",
+ "Abnormality of the lower limb",
+ "anatomical entity morphology in the skeleton of pectoral complex phenotype",
+ "forelimb skeleton phenotype",
+ "anatomical entity morphology in the appendage girdle complex phenotype",
+ "paired limb/fin skeleton phenotype",
+ "negative regulation of gene expression",
+ "delayed cellular process",
+ "behavior",
+ "decreased size of the sense organ",
+ "Aplasia/hypoplasia involving the skeleton",
+ "absent bone of appendage girdle complex in the limb",
+ "Abnormality of the head",
+ "embryo development",
+ "Abnormality of the upper limb",
+ "absent anatomical entity in the skeletal system",
+ "bone of appendage girdle complex phenotype",
+ "external male genitalia",
+ "number of anatomical enitites of type material anatomical entity phenotype",
+ "multicellular organismal process phenotype",
+ "absent bone of pectoral complex",
+ "absent bone element in the forelimb",
+ "location of ear phenotype",
+ "Depressed nasal tip",
"forelimb phenotype",
- "Abnormal brain morphology",
- "decreased secretion by cell",
- "adenohypophysis phenotype",
- "phenotypic effect",
+ "Abnormality of the respiratory system",
+ "autopod region morphology phenotype",
+ "absent skeletal element in the forelimb",
+ "upper limb segment phenotype",
+ "Decreased external ear position",
+ "organ part atresia",
+ "lower jaw region",
+ "limb long bone phenotype",
+ "multicellular organism",
+ "forelimb long bone phenotype",
+ "roof of mouth",
+ "immaterial anatomical entity phenotype",
"closing of the anatomical structure",
- "limb phenotype",
- "nervous system phenotype",
- "formed ectoderm-derived structure",
- "Aplasia/hypoplasia involving bones of the upper limbs",
- "limb skeleton subdivision phenotype",
- "material entity",
- "Abnormal appendicular skeleton morphology",
- "abdomen element",
- "organ",
- "brain phenotype",
- "skeleton of limb",
- "digestive tract",
- "anatomical structure degeneration",
- "endochondral element phenotype",
+ "multi-limb segment region",
"multicellular anatomical structure atresia",
- "radius bone hypoplasia",
- "anatomical structure",
- "hemopoietic organ",
- "small intestine",
- "cavitated compound organ phenotype",
- "small intestine morphology phenotype",
- "pectoral appendage phenotype",
+ "external male genitalia hypoplasia",
+ "zeugopod phenotype",
+ "absent limb endochondral element",
+ "primary subdivision of cranial skeletal system phenotype",
+ "Absent radius",
+ "ear",
+ "absent mesoderm-derived structure in the forelimb",
+ "Abnormal forearm morphology",
+ "Growth abnormality",
+ "metencephalon",
+ "membrane bone phenotype",
+ "endochondral element",
+ "Abnormality of the urinary system",
+ "Abnormal skull morphology",
+ "Cognitive impairment",
+ "orbital region",
+ "forelimb zeugopod phenotype",
+ "leg",
+ "material entity",
+ "absent mesoderm-derived structure in the limb",
+ "olfactory organ",
+ "limb bone phenotype",
+ "absent bone of pectoral complex in the forelimb",
+ "absent endochondral element",
+ "closing of the subdivision of digestive tract",
+ "behavior phenotype",
+ "long bone",
+ "skeleton",
+ "absent radius endochondral element in the forelimb",
+ "skeleton of lower jaw phenotype",
+ "lateral structure phenotype",
+ "bone of pectoral complex morphology phenotype",
+ "flattened anatomical entity",
+ "Abnormality of the musculoskeletal system",
+ "absent limb bone in the limb",
+ "pectoral appendage skeleton",
+ "neck bone",
+ "manual digit phenotype",
+ "sense organ",
+ "pectoral appendage skeleton phenotype",
+ "forelimb long bone",
+ "radius bone",
+ "skeleton of pectoral complex",
+ "bone of pectoral complex",
+ "absent arm bone",
+ "number of anatomical enitites of type organ phenotype",
+ "arm bone phenotype",
+ "absent material anatomical entity in the skeletal system",
+ "pigmentation",
"limb bone morphology phenotype",
- "digestive system element",
- "formed anatomical structure",
- "All",
- "subdivision of tube phenotype",
- "limb bone",
- "midface morphology phenotype",
- "pectoral complex",
- "Myelodysplasia",
- "alimentary part of gastrointestinal system phenotype",
- "subdivision of digestive tract",
- "body proper",
- "appendicular skeletal system",
- "Decreased head circumference",
- "material anatomical entity",
- "brain ventricle/choroid plexus phenotype",
- "increased number of multicellular anatomical structure in the abdomen",
- "multicellular organism phenotype",
- "forelimb zeugopod bone",
- "brain ventricle",
- "decreased length of bone of pectoral complex",
- "hypothalamus-pituitary axis",
- "absent multicellular anatomical structure in the multicellular organism",
- "appendage",
- "decreased size of the material anatomical entity",
- "increased number of material anatomical entity in the abdomen",
- "decreased length of material anatomical entity",
- "signal release",
- "decreased size of the forelimb endochondral element",
- "secretion by cell phenotype",
- "subdivision of digestive tract phenotype",
- "tube",
- "regulation of biological quality phenotype",
- "autopodial extension phenotype",
- "musculature of body phenotype",
- "decreased qualitatively regulation of hormone levels",
- "forelimb zeugopod bone hypoplasia",
- "absent material anatomical entity in the limb",
- "Abnormal cerebellum morphology",
- "organ subunit phenotype",
- "export from cell",
- "material anatomical entity phenotype",
- "paired limb/fin",
- "head morphology phenotype",
- "immune system phenotype",
- "Aplasia/hypoplasia involving forearm bones",
- "Abnormality of limb bone",
+ "pectoral appendage phenotype",
+ "cell phenotype",
+ "regulation of biosynthetic process phenotype",
+ "endochondral bone phenotype",
"segmental subdivision of nervous system phenotype",
- "number of anatomical enitites of type multicellular anatomical structure phenotype",
- "arm",
- "Abnormal duodenum morphology",
- "Abnormal thumb morphology",
- "increased number of anatomical structure",
- "multicellular organism morphology phenotype",
- "bone element phenotype",
- "decreased length of long bone",
- "decreased qualitatively biological_process",
- "Abnormal cerebral ventricle morphology",
- "forelimb zeugopod phenotype",
- "Aplasia/hypoplasia involving bones of the extremities",
- "Abnormal finger morphology",
- "tube phenotype",
- "closing of the subdivision of tube",
- "decreased length of mesoderm-derived structure",
- "regional part of brain phenotype",
+ "absent anatomical structure in the ear",
+ "biological_process phenotype",
+ "absent anatomical entity in the forelimb",
+ "absent forelimb endochondral element in the forelimb",
+ "absent multicellular anatomical structure in the multicellular organism",
+ "Abnormal cellular phenotype",
+ "absent multicellular anatomical structure in the reproductive system",
+ "forelimb endochondral element phenotype",
+ "limb endochondral element phenotype",
+ "subdivision of oviduct phenotype",
+ "absent anatomical entity",
+ "digit 1 phenotype",
+ "increased length of the anatomical line",
+ "occurrent",
+ "subdivision of tube",
+ "Cleft palate",
+ "Low-set ears",
+ "flat nose tip",
+ "root",
+ "decreased qualitatively developmental process",
+ "face phenotype",
+ "radius bone morphology phenotype",
+ "Aplasia involving forearm bones",
+ "number of anatomical enitites of type anatomical structure phenotype",
+ "forelimb morphology phenotype",
+ "homeostatic process phenotype",
"biological regulation",
- "anatomical system atresia",
- "alimentary part of gastrointestinal system morphology phenotype",
- "intestine",
- "specifically dependent continuant",
- "closing of the anatomical entity",
- "aplasia or hypoplasia of telencephalon",
- "Abnormal metencephalon morphology",
- "aplasia or hypoplasia of radius bone",
- "Intrauterine growth retardation",
- "brain ventricle/choroid plexus",
- "pituitary gland",
- "decreased size of the skeletal element",
- "duodenum atresia",
- "multicellular organism",
- "embryo development",
- "Abnormality of the digestive system",
- "decreased length of limb endochondral element",
+ "decreased developmental process",
+ "absent material anatomical entity in the limb",
+ "absent arm bone in the forelimb",
+ "Aplasia/Hypoplasia of the mandible",
+ "forelimb zeugopod bone phenotype",
+ "number of anatomical enitites of type organism subdivision phenotype",
+ "oral cavity morphology phenotype",
+ "upper limb segment",
+ "digestive system morphology phenotype",
"Phenotypic abnormality",
- "forelimb long bone",
- "closing of the anatomical system",
- "Abnormal midface morphology",
- "increased number of immune organ",
- "decreased size of the limb bone",
- "musculoskeletal system phenotype",
- "Morphological central nervous system abnormality",
- "decreased length of bone of appendage girdle complex",
- "multicellular anatomical structure",
- "long bone morphology phenotype",
- "anatomical entity morphology in the brain phenotype",
- "Midface retrusion",
- "bone element",
- "pectoral appendage",
- "Abnormality of the vasculature",
- "central nervous system cell part cluster",
- "pectoral appendage skeleton phenotype",
- "lymphoid system phenotype",
- "ventricle of nervous system phenotype",
- "closing of the multicellular anatomical structure",
- "skeleton of manus",
- "alimentary part of gastrointestinal system",
- "biological_process rate in brain phenotype",
- "Abnormal digestive system morphology",
- "Gastrointestinal atresia",
- "neoplasm phenotype",
- "Abnormal upper limb bone morphology",
- "independent continuant",
- "zeugopodial skeleton",
- "Intestinal atresia",
- "anatomical system",
- "nitrogen compound transport phenotype",
- "decreased size of the forelimb zeugopod bone",
- "digitopodium region",
- "skeletal system morphology phenotype",
- "compound organ",
- "paired limb/fin segment phenotype",
- "cerebral hemisphere white matter phenotype",
- "small intestine phenotype",
- "Duodenal atresia",
+ "mouth",
+ "dermal bone",
+ "size of eyeball of camera-type eye phenotype",
+ "skeleton of lower jaw",
+ "mandible",
"digestive system element phenotype",
- "organ part phenotype",
- "Abnormal limb bone morphology",
- "Neoplasm by anatomical site",
- "hormone transport",
- "Abnormality of the skeletal system",
- "multi-tissue structure phenotype",
- "limb morphology phenotype",
- "decreased export from cell",
- "immune organ phenotype",
- "forebrain phenotype",
- "Abnormality of the upper limb",
- "limb bone phenotype",
- "Abnormality of head or neck",
- "Abnormal intestine morphology",
- "Hematological neoplasm",
+ "Aplasia/hypoplasia affecting bones of the axial skeleton",
+ "craniofacial/craniocervical phenotype",
+ "Abnormal tracheobronchial morphology",
+ "Opisthokonta",
+ "viscus",
+ "axial skeleton plus cranial skeleton",
+ "paired limb/fin skeleton",
+ "absent anatomical structure in the skeletal system",
+ "face",
+ "subdivision of digestive tract",
+ "increased size of the anatomical line",
+ "incomplete closing of the ectoderm-derived structure",
+ "head bone phenotype",
+ "Abnormal jaw morphology",
+ "number of anatomical enitites of type skeletal element phenotype",
+ "Abnormal facial skeleton morphology",
+ "head morphology phenotype",
+ "Aplasia/Hypoplasia involving bones of the skull",
+ "alimentary part of gastrointestinal system morphology phenotype",
+ "forelimb",
+ "absent autopodial extension",
+ "subdivision of tube phenotype",
+ "number of anatomical enitites of type endochondral element phenotype",
+ "obsolete regulation of cellular metabolic process",
+ "Abnormality of the uterus",
+ "limb segment",
+ "mouth morphology phenotype",
+ "regulation of biological process phenotype",
+ "Abnormal appendicular skeleton morphology",
"postcranial axial skeleton",
- "organ system subdivision",
- "viscus",
- "diencephalon morphology phenotype",
- "decreased size of the bone element",
- "abdominal viscera phenotype",
- "endochondral bone",
- "anatomical entity morphology in the skeleton of pectoral complex phenotype",
- "anatomical entity morphology phenotype",
- "forelimb skeleton",
- "formed regional part of nervous system",
- "spleen phenotype",
- "forelimb zeugopod bone morphology phenotype",
- "decreased length of forelimb zeugopod bone",
- "forelimb bone",
- "forelimb zeugopod bone phenotype",
- "absent organism subdivision in the multicellular organism",
- "agenesis of anatomical entity",
- "decreased size of the limb endochondral element",
- "anatomical entity hypoplasia",
- "aplasia or hypoplasia of manual digit 1",
- "Abnormality of limbs",
- "regulation of biological process",
- "manual digit",
- "paired limb/fin skeleton phenotype",
- "skeletal element",
"musculoskeletal system",
- "Abnormality of the gastrointestinal tract",
- "digestive system morphology phenotype",
- "anatomical structure atresia",
+ "male reproductive organ phenotype",
+ "vestibulo-auditory system",
+ "neural crest-derived structure phenotype",
+ "regional part of nervous system phenotype",
+ "absent forelimb bone",
+ "number of anatomical enitites of type mesoderm-derived structure phenotype",
+ "hindlimb phenotype",
+ "trunk region element atresia",
+ "trunk",
+ "absent anatomical structure in the multicellular organism",
+ "Abnormal finger morphology",
+ "absent endochondral bone in the forelimb",
+ "integument phenotype",
+ "shape of continuant phenotype",
+ "number of anatomical enitites of type endochondral bone phenotype",
+ "fused sacrum phenotype",
+ "mouth phenotype",
+ "taxon specific phenotype",
+ "skull",
+ "Abnormal digit morphology",
+ "absent anatomical entity in the multicellular organism",
+ "nervous system morphology phenotype",
"skeletal system",
+ "dermal skeleton phenotype",
+ "paired limb/fin",
+ "posterior region of body",
+ "multi-limb segment region phenotype",
+ "organ system subdivision",
+ "trunk bone",
+ "absent endochondral element in the forelimb",
+ "Aplasia/hypoplasia of the uterus",
+ "manual digitopodium region",
+ "endoderm-derived structure",
+ "absent manual digit",
+ "facial bone phenotype",
+ "mandible hypoplasia",
+ "musculature",
+ "mandible phenotype",
+ "bone of craniocervical region phenotype",
+ "absent kidney",
+ "autopodial extension",
+ "absent multicellular anatomical structure in the ear",
+ "multicellular anatomical structure",
+ "manual digit plus metapodial segment",
+ "primary subdivision of skull",
+ "Abnormal axial skeleton morphology",
+ "absent bone of free limb or fin",
+ "postcranial axial skeletal system",
+ "aplastic manual digit 1",
+ "digestive system",
+ "cranial skeletal system",
+ "Esophageal atresia",
+ "regulation of macromolecule metabolic process phenotype",
+ "axon ensheathment",
+ "dermatocranium",
+ "absent forelimb zeugopod bone",
+ "absent endochondral element in the limb",
+ "absent organ in the forelimb",
+ "entire sense organ system",
+ "phenotypic effect",
+ "anatomical system atresia",
+ "fused sacrum hypoplasia",
+ "radius bone phenotype",
+ "Aplasia/Hypoplasia of fingers",
+ "appendicular skeleton",
+ "bone of appendage girdle complex",
+ "axial skeletal system",
+ "hindlimb morphology phenotype",
+ "vertebral column",
+ "digestive system element",
+ "number of anatomical enitites of type organ component layer phenotype",
+ "absent external ear",
+ "aplasia or hypoplasia of skull",
+ "skeleton phenotype",
+ "bone of lower jaw phenotype",
+ "bone element phenotype",
+ "decreased length of material anatomical entity",
+ "pes phenotype",
+ "subdivision of skeleton",
+ "dermal skeletal element",
+ "Abnormality of the skeletal system",
+ "Abnormality of head or neck",
+ "bone element hypoplasia in face",
"aplasia or hypoplasia of anatomical entity",
- "Abnormality of the hypothalamus-pituitary axis",
- "ventricular system of brain",
+ "nose morphology phenotype",
+ "Abnormal gastrointestinal tract morphology",
+ "Abnormality of limbs",
+ "subdivision of skeletal system",
+ "Abnormal myelination",
+ "limb endochondral element",
"aplasia or hypoplasia of skeleton",
- "decreased cellular process",
+ "Anemia",
+ "Abnormal affect",
+ "structure with developmental contribution from neural crest",
+ "endochondral bone",
+ "skeletal element",
+ "Renal hypoplasia/aplasia",
+ "absent material anatomical entity in the female reproductive system",
+ "Abnormal hand morphology",
+ "Abnormal ocular adnexa morphology",
+ "arm bone",
+ "immaterial entity",
+ "digestive tract",
+ "blood cell",
+ "absent forelimb bone in the forelimb",
+ "nervous system phenotype",
+ "forelimb bone",
+ "forelimb endochondral element",
+ "anatomical collection",
+ "kidney phenotype",
+ "face morphology phenotype",
+ "alimentary part of gastrointestinal system phenotype",
+ "Abnormality of the ear",
+ "facial skeleton",
+ "neck bone phenotype",
+ "Abnormality of the genitourinary system",
+ "embryo development phenotype",
+ "Abnormal foot morphology",
+ "anatomical conduit phenotype",
+ "sensory system",
+ "gliogenesis",
+ "anatomical entity morphology in the pectoral complex phenotype",
+ "reproductive structure",
+ "subdivision of head",
+ "regulation of biosynthetic process",
+ "Decreased anatomical entity position",
+ "Abnormality of the vertebral column",
+ "number of anatomical enitites of type lateral structure phenotype",
+ "Morphological central nervous system abnormality",
+ "location of anatomical entity phenotype",
"subdivision of skeletal system phenotype",
- "midface",
- "vasculature",
+ "external soft tissue zone",
+ "increased number of brain ventricle/choroid plexus",
+ "ear morphology phenotype",
"subdivision of organism along appendicular axis",
- "Aplasia/hypoplasia involving the skeleton",
- "upper urinary tract phenotype",
- "mesoderm-derived structure",
- "digit 1",
- "Abnormal digit morphology",
- "bone of pectoral complex phenotype",
- "decreased length of endochondral element",
- "system",
- "lateral structure phenotype",
- "anatomical collection phenotype",
- "arm phenotype",
- "central nervous system cell part cluster phenotype",
- "Neoplasm",
- "increased size of the anatomical entity",
- "metencephalon phenotype",
- "hematopoietic system phenotype",
- "segmental subdivision of hindbrain",
- "trunk",
- "hemolymphoid system",
- "hematopoietic system",
- "anatomical cluster",
- "regulation of biological quality",
- "Growth delay",
- "biological_process",
- "subdivision of organism along appendicular axis phenotype",
- "entity",
- "growth",
- "decreased transport",
- "delayed biological_process",
- "hypothalamus-pituitary axis phenotype",
- "decreased length of endochondral bone",
- "decreased qualitatively establishment of localization",
- "Short forearm",
- "growth phenotype",
- "delayed growth",
- "subdivision of head",
- "developmental process rate phenotype",
- "manual digit phenotype",
- "anatomical structure development",
- "decreased qualitatively multicellular organismal process",
- "Aplasia/Hypoplasia of the cerebrum",
- "decreased multicellular organism development",
- "decreased biological_process",
- "number of anatomical enitites of type anatomical entity phenotype",
- "anatomical structure development phenotype",
- "multicellular organismal process",
- "hindbrain",
- "secretion",
- "developmental process",
- "decreased size of the endochondral element",
- "limb long bone morphology phenotype",
- "biological_process rate phenotype",
- "multicellular organismal process phenotype",
- "Abnormality of the musculoskeletal system",
- "Aplasia/hypoplasia involving bones of the hand",
- "multicellular organism development phenotype",
- "Abnormality of the cardiovascular system",
- "central nervous system phenotype",
- "formed material anatomical entity",
- "Abnormal response to endocrine stimulation test",
- "decreased qualitatively embryo development",
- "decreased qualitatively multicellular organism development",
- "decreased secretion",
- "number of anatomical enitites of type organism subdivision phenotype",
- "Abnormal endocrine morphology",
- "decreased embryo development",
- "increased number of viscus",
- "intestine phenotype",
- "increased number of organ",
- "decreased anatomical structure development",
- "endochondral bone phenotype",
- "developmental process phenotype",
- "organ system subdivision phenotype",
- "manual digit 1 or 5",
- "excretory system",
- "cerebellum",
- "paired limb/fin segment",
- "embryo development rate phenotype",
- "reproductive system",
- "endocrine system phenotype",
- "regulation of hormone levels",
- "decreased qualitatively developmental process",
- "organism subdivision",
+ "increased length of the anatomical line between pupils",
+ "Craniofacial cleft",
"central nervous system morphology phenotype",
- "increased size of the brain ventricle",
- "kidney morphology phenotype",
- "decreased size of the material anatomical entity in the pectoral complex",
- "immune system morphology phenotype",
- "decreased length of limb bone",
- "decreased localization",
- "ventricle of nervous system",
- "central nervous system",
- "decreased qualitatively transport",
- "ventricular system of central nervous system",
- "brain",
- "brain ventricle/choroid plexus morphology phenotype",
- "Abnormality of the lymphatic system",
- "Abnormality of the anterior pituitary",
- "anatomical wall phenotype",
- "increased size of the anatomical structure",
- "anatomical collection",
- "increased size of the organ part",
- "Polysplenia",
- "subdivision of head phenotype",
- "brain ventricle morphology phenotype",
- "increased size of the brain ventricle/choroid plexus",
- "Forearm undergrowth",
- "forelimb endochondral element phenotype",
+ "absent bone of free limb or fin in the forelimb",
+ "subdivision of skeleton phenotype",
+ "Abnormal anus morphology",
+ "arm phenotype",
+ "anterior region of body",
+ "aplastic anatomical entity",
+ "bone cell",
+ "absent organism subdivision in the head",
+ "cavitated compound organ",
+ "primary subdivision of cranial skeletal system",
+ "absent endochondral bone",
+ "limb long bone",
+ "dermal skeleton",
+ "absent forelimb long bone",
+ "autopod region phenotype",
+ "endoderm-derived structure phenotype",
+ "external ear",
+ "appendage girdle complex",
+ "long bone phenotype",
+ "regional part of brain phenotype",
+ "organ",
+ "Wide nasal bridge",
+ "trunk region element",
+ "dorsal region element phenotype",
+ "bone of lower jaw",
+ "organ phenotype",
+ "reproductive system morphology phenotype",
+ "intramembranous bone phenotype",
+ "material anatomical entity phenotype",
+ "subdivision of organism along main body axis",
+ "absent forelimb endochondral element in the limb",
"absent multicellular anatomical structure in the forelimb",
- "decreased size of the forelimb bone",
- "main body axis",
- "anatomical wall",
- "Abnormal long bone morphology",
- "bone of free limb or fin",
+ "appendage",
+ "Abnormal nervous system physiology",
+ "limb morphology phenotype",
+ "Abnormal ear morphology",
+ "mesoderm-derived structure",
+ "external ear phenotype",
+ "renal system morphology phenotype",
+ "aplasia or hypoplasia of external ear",
+ "bone element",
+ "cerebrospinal fluid",
+ "anatomical structure",
+ "sense organ phenotype",
+ "skull morphology phenotype",
+ "organ part",
+ "shape of external ear phenotype",
"forelimb bone phenotype",
- "ectoderm-derived structure phenotype",
- "Abnormality of blood and blood-forming tissues",
- "peptide transport",
- "increased size of the material anatomical entity",
- "Abnormal nervous system morphology",
- "increased size of the multicellular anatomical structure",
- "absent anatomical structure in the multicellular organism",
- "absent anatomical entity in the forelimb",
- "ectoderm-derived structure",
- "brain ventricle phenotype",
- "absent anatomical structure in the limb",
- "peptide hormone secretion",
- "biological regulation phenotype",
- "Abnormality of the nervous system",
- "nervous system",
- "increased size of the organ component layer",
- "Abnormal forearm bone morphology",
- "nervous system morphology phenotype",
- "organ component layer phenotype",
- "manus morphology phenotype",
- "regional part of brain",
- "digit phenotype",
+ "external male genitalia phenotype",
+ "Feeding difficulties",
+ "skull phenotype",
+ "structure with developmental contribution from neural crest phenotype",
+ "number of anatomical enitites of type reproductive structure phenotype",
+ "Abnormal CNS myelination",
+ "multicellular organism morphology phenotype",
+ "brain ventricle/choroid plexus morphology phenotype",
+ "independent continuant",
+ "mandible morphology phenotype",
+ "Abnormal cerebrospinal fluid morphology",
+ "Abnormal metencephalon morphology",
+ "leg phenotype",
+ "compound organ",
+ "Abnormal thumb morphology",
+ "Eukaryota",
+ "decreased qualitatively multicellular organismal process",
+ "subdivision of organism along main body axis phenotype",
+ "craniocervical region phenotype",
+ "respiratory tube",
+ "bone of craniocervical region",
+ "abdominal segment bone phenotype",
+ "increased number of brain ventricle in the cerebrospinal fluid",
+ "dermatocranium phenotype",
+ "organism subdivision phenotype",
+ "absent multicellular anatomical structure",
+ "closing of the subdivision of tube",
+ "entity",
+ "Abnormal eye morphology",
+ "limb long bone morphology phenotype",
+ "Abnormal mandible morphology",
+ "bone marrow",
+ "anatomical system",
"head",
- "digit",
- "acropodium region",
- "absent anatomical entity",
- "number of anatomical enitites of type anatomical structure phenotype",
- "Aplasia/Hypoplasia of fingers",
- "aplastic manual digit 1",
+ "absent material anatomical entity in the forelimb",
+ "head phenotype",
+ "eyeball of camera-type eye phenotype",
+ "external ear morphology phenotype",
+ "anatomical entity phenotype",
+ "number of anatomical enitites of type anatomical entity phenotype",
+ "nasal bridge",
+ "aplastic forelimb zeugopod bone",
+ "vestibulo-auditory system phenotype",
+ "cerebrospinal fluid phenotype",
+ "anatomical entity",
+ "thoracic segment of trunk",
+ "facial bone hypoplasia",
"manual digit 1 plus metapodial segment",
- "absent multicellular anatomical structure",
- "digit 1 phenotype",
- "endochondral element",
- "lymphatic part of lymphoid system",
- "myeloid cell",
- "organ part atresia",
- "anatomical entity atresia",
+ "organism subdivision",
+ "organ subunit phenotype",
+ "Abnormal brain morphology",
"autopod region",
- "megakaryocyte morphology phenotype",
- "viscus phenotype",
- "manual digit morphology in the manus phenotype",
- "bone of appendage girdle complex",
- "manual digit 1",
- "manus",
- "endocrine system morphology phenotype",
- "immune organ",
- "Abnormal hand morphology",
- "limb endochondral element phenotype",
- "size of brain ventricle phenotype",
- "digit morphology phenotype",
- "formed cerebellum",
- "reproductive system phenotype",
- "autopodial extension",
- "absent anatomical entity in the limb",
- "absent material anatomical entity in the multicellular organism",
- "autopod region morphology phenotype",
- "skull",
- "Abnormality of the hand",
- "renal/urinary system phenotype",
- "autopod region phenotype",
- "decreased regulation of hormone levels",
- "manus phenotype",
- "lymphoid system",
- "absent material anatomical entity in the forelimb",
- "Ventriculomegaly",
- "forelimb zeugopod morphology phenotype",
- "manual digitopodium region",
- "absent digit",
- "endocrine gland",
- "decreased regulation of biological quality",
- "aplastic anatomical entity",
- "Hypoplasia of the radius",
- "manual digit 1 morphology phenotype",
- "increased number of multicellular anatomical structure",
- "number of anatomical enitites of type abdominal segment element phenotype",
- "absent anatomical entity in the multicellular organism",
- "hematopoietic system morphology phenotype",
- "abdominal segment of trunk",
- "decreased size of the organ",
- "radius bone phenotype",
- "abdominal segment element",
- "endocrine system",
- "decreased size of the arm bone",
- "abdominal viscera",
+ "lower limb segment",
+ "ear phenotype",
+ "sensory system phenotype",
+ "glial cell differentiation",
+ "ectoderm-derived structure phenotype",
+ "paired limb/fin segment",
+ "anatomical structure development phenotype",
+ "aplasia or hypoplasia of ear",
+ "pelvic region of trunk",
+ "external genitalia",
+ "penis phenotype",
+ "Orofacial cleft",
+ "Webbed neck",
+ "limb segment phenotype",
+ "Abnormal skeletal morphology",
+ "Bilateral talipes equinovarus",
+ "Aplasia/hypoplasia of the extremities",
"renal system phenotype",
- "decreased peptide transport",
- "anatomical cluster phenotype",
- "duodenum",
- "trunk region element",
- "number of anatomical enitites of type organ phenotype",
- "adenohypophysis",
- "abdomen element phenotype",
- "disconnected anatomical group",
- "segment of autopod",
- "increased number of abdomen element",
- "immune system",
- "forelimb long bone phenotype",
- "number of anatomical enitites of type hemopoietic organ phenotype",
- "increased number of trunk region element",
- "increased number of material anatomical entity",
- "export from cell phenotype",
- "decreased qualitatively anatomical structure development",
- "Supernumerary spleens",
- "anterior region of body",
- "number of anatomical enitites of type immune organ phenotype",
- "cardiovascular system phenotype",
- "Abnormality of the abdominal organs",
- "decreased length of bone of free limb or fin",
- "vasculature phenotype",
- "appendicular skeleton phenotype",
- "spleen morphology phenotype",
- "subdivision of organism along main body axis",
- "face morphology phenotype",
- "decreased size of the bone of appendage girdle complex",
- "subdivision of trunk",
- "decreased size of the anatomical structure",
- "circulatory system phenotype",
- "abdominal segment element phenotype",
- "subdivision of organism along main body axis phenotype",
- "subdivision of trunk phenotype",
- "decreased qualitatively cellular process",
- "non-connected functional system",
- "skeleton of limb phenotype",
- "vascular system",
- "subdivision of tube atresia",
- "circulatory system",
- "Opisthokonta",
- "increased number of anatomical entity in the abdomen",
- "Limb undergrowth",
- "number of anatomical enitites of type viscus phenotype",
- "lymphatic part of lymphoid system phenotype",
- "Eukaryota",
+ "Micrognathia",
+ "continuant",
+ "pes",
+ "integument",
+ "anatomical entity morphology phenotype",
+ "system",
+ "head bone",
"anatomical system phenotype",
- "increased number of anatomical structure in the abdomen",
- "hemopoietic organ phenotype",
- "trunk phenotype",
- "decreased signal release",
- "reproductive structure",
- "long bone",
- "decreased biological_process in brain",
- "decreased peptide secretion"
+ "manus morphology phenotype",
+ "snout",
+ "anatomical structure phenotype",
+ "renal/urinary system phenotype",
+ "paired limb/fin phenotype",
+ "lower limb segment phenotype",
+ "behavior process phenotype",
+ "facial bone",
+ "aplasia or hypoplasia of mandible",
+ "irregular bone",
+ "absent lateral structure in the head",
+ "main body axis",
+ "hindlimb",
+ "regional part of nervous system",
+ "primary subdivision of skull phenotype",
+ "absent anatomical structure in the limb",
+ "absent forelimb zeugopod bone in the forelimb",
+ "cellular organisms",
+ "musculature phenotype",
+ "absent limb long bone",
+ "pes morphology phenotype",
+ "endochondral element phenotype",
+ "pelvic complex",
+ "snout morphology phenotype",
+ "Neurodevelopmental abnormality",
+ "jaw skeleton",
+ "cranial skeletal system phenotype",
+ "Talipes",
+ "Abnormal cerebral ventricle morphology",
+ "Neurodevelopmental delay",
+ "pelvic appendage",
+ "agenesis of anatomical entity",
+ "hindbrain phenotype",
+ "absent bone of pectoral complex in the limb",
+ "pectoral complex",
+ "skeletal system morphology phenotype",
+ "anatomical entity hypoplasia",
+ "intramembranous bone",
+ "appendicular skeletal system",
+ "limb bone",
+ "dermal bone phenotype",
+ "reproductive organ",
+ "absent lateral structure",
+ "Hypermelanotic macule",
+ "pelvic appendage phenotype",
+ "absent subdivision of head",
+ "external nose",
+ "appendage phenotype",
+ "skeletal system phenotype"
],
- "has_phenotype_count": 16,
+ "has_phenotype_count": 36,
"highlight": null,
"score": null
}
diff --git a/frontend/src/api/model.ts b/frontend/src/api/model.ts
index ce1ab313d..5a3827d1f 100644
--- a/frontend/src/api/model.ts
+++ b/frontend/src/api/model.ts
@@ -126,6 +126,8 @@ export interface Association {
subject_taxon?: string,
subject_taxon_label?: string,
predicate: string,
+ /** used to hold the original relation/predicate that an external knowledge source uses before transformation to match the biolink-model specification. */
+ original_predicate?: string,
object: string,
original_object?: string,
/** The namespace/prefix of the object entity */
@@ -231,6 +233,30 @@ export interface Association {
species_context_qualifier_namespace?: string,
/** The category of the species_context_qualifier entity */
species_context_qualifier_category?: string,
+ /** A qualifier that composes with a core subject/object concept to define a more specific version of the subject concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the subject identifier. */
+ subject_specialization_qualifier?: string,
+ /** A label for the subject_specialization_qualifier */
+ subject_specialization_qualifier_label?: string,
+ /** The namespace/prefix of the subject_specialization_qualifier */
+ subject_specialization_qualifier_namespace?: string,
+ /** The category of the subject_specialization_qualifier */
+ subject_specialization_qualifier_category?: string,
+ /** A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors */
+ subject_specialization_qualifier_closure?: string,
+ /** A closure of the subject_specialization_qualifier, including the subject_specialization_qualifier itself and all of its ancestors */
+ subject_specialization_qualifier_closure_label?: string,
+ /** A qualifier that composes with a core subject/object concept to define a more specific version of the object concept, specifically using an ontology term that is not a subclass or descendant of the core concept and in the vast majority of cases, is of a different ontological namespace than the category or namespace of the object identifier. */
+ object_specialization_qualifier?: string,
+ /** A label for the object_specialization_qualifier */
+ object_specialization_qualifier_label?: string,
+ /** The namespace/prefix of the object_specialization_qualifier */
+ object_specialization_qualifier_namespace?: string,
+ /** The category of the object_specialization_qualifier */
+ object_specialization_qualifier_category?: string,
+ /** A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors */
+ object_specialization_qualifier_closure?: string,
+ /** A closure of the object_specialization_qualifier, including the object_specialization_qualifier itself and all of its ancestors */
+ object_specialization_qualifier_closure_label?: string,
}
diff --git a/frontend/src/pages/metadata.json b/frontend/src/pages/metadata.json
index 21a752ddb..f630c0727 100644
--- a/frontend/src/pages/metadata.json
+++ b/frontend/src/pages/metadata.json
@@ -3,22 +3,22 @@
{
"label": "Genes",
"icon": "category-gene",
- "count": 571144
+ "count": 563419
},
{
"label": "Phenotypes",
"icon": "category-phenotypic-quality",
- "count": 143946
+ "count": 151521
},
{
"label": "Diseases",
"icon": "category-disease",
- "count": 29392
+ "count": 29916
},
{
"label": "Total Nodes",
"icon": "node",
- "count": 1044537
+ "count": 1092405
}
],
"association": [
@@ -26,24 +26,24 @@
"label": "Gene to Disease",
"icon": "category-gene",
"icon2": "category-disease",
- "count": 15324
+ "count": 15319
},
{
"label": "Gene to Phenotype",
"icon": "category-gene",
"icon2": "category-phenotypic-quality",
- "count": 954698
+ "count": 964732
},
{
"label": "Disease to Phenotype",
"icon": "category-disease",
"icon2": "category-phenotypic-quality",
- "count": 252590
+ "count": 252172
},
{
"label": "Total Associations",
"icon": "association",
- "count": 11278911
+ "count": 11701549
}
]
}
diff --git a/frontend/src/pages/node/AssociationsTable.vue b/frontend/src/pages/node/AssociationsTable.vue
index 527f148df..f33191343 100644
--- a/frontend/src/pages/node/AssociationsTable.vue
+++ b/frontend/src/pages/node/AssociationsTable.vue
@@ -67,6 +67,11 @@
+
+
+ {{ row.original_predicate }}
+
+
+
+
+
+
+
+ {{ row.subject_specialization_qualifier }}
+
+
+ {{ row.subject_specialization_qualifier }}
+
+
+
+
+ No info
+
+
>(() => {
];
});
+const medicalActionCategory =
+ "biolink:ChemicalOrDrugOrTreatmentToDiseaseOrPhenotypicFeatureAssociation";
+const medicalActionColumns = computed>(() => {
+ return [
+ {
+ slot: "subject",
+ key: "subject_label",
+ heading: "Medical Action",
+ },
+ {
+ slot: "extension",
+ key: "subject_specialization_qualifier",
+ heading: "Extension",
+ },
+ {
+ slot: "maxorelation",
+ key: "original_predicate",
+ heading: "MaXO Relation",
+ },
+ {
+ slot: "object",
+ key: "object_label",
+ heading: "Phenotype",
+ },
+ {
+ slot: "disease",
+ key: "disease_context_qualifier_label",
+ heading: "Disease Context",
+ },
+ {
+ slot: "details",
+ key: "evidence_count",
+ heading: "Details",
+ align: "center",
+ },
+ ];
+});
+
/** table columns */
const cols = computed((): Cols => {
if (props.category.id.includes("GeneToGeneHomology")) {
return orthologColoumns.value;
+ } else if (props.category.id == medicalActionCategory) {
+ return medicalActionColumns.value;
}
/** standard columns, always present */